Research Toolbox
We are committed to working with institutions and researchers that share reagents, biospecimens, cells lines, animal models, and data.
Available Cell Lines
OCNDS Human Dermal Fibroblasts
- Healthy control male and female human dermal fibroblast cell lines are also available.
- Available from: Translational Genomics Research Institute Center for Rare Childhood Disorders
- Contact: Matt Huentelman, PhD, mhuentelman@tgen.org
Sex | CSNK2A1 Mutation | Family ID |
---|---|---|
Female | NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) chr20:492282 | F215-P001 |
Female | NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) chr20:492282 | F215-P003 (Affected half-sister of F215-P001) |
Female | NM_177559.3(CSNK2A1):c.139C>G (p.Arg47Gly) chr20:505192 | F565-P001 |
Female | NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) chr20:495761 | N017-P001 |
iPSCs
- Induced pluripotent stem cells from individuals with OCNDS are available via Simons SFARI Base. Please see table below for available lines.
GENE | C. | P. | SOURCE | Co-Isogenic Controls |
---|---|---|---|---|
CSNK2A1 | 140G>A | Arg47Gln | PBMCS | No |
CSNK2A1 | 593A>G | Lys198Arg | PBMCS | No |
CSNK2A1 | CNV: 378136-547319 | CNV deletion | PBMCS | No |
CSNK2A1 | 468T>A | Asp156Glu | PBMCS | Failed To Generate |
CSNK2A1 | 593A>G | Lys198Arg | PBMCS | In Progress |
CSNK2A1 | 149A>C | Arg312Trp | PBMCS | Yes |
CSNK2A1 | 149A>C | Tyr50Ser | PBMCS | No |
CSNK2A1 | 139C>G | Arg47Gly | PBMCS | Failed To Generate |
CSNK2A1 | 140G>A | Arg47Gln | PBMCS | No |
Mouse Models
1. Csnk2a1 K198R
- Available through Jackson Labs
- Hosted through NIH’s Mutant Mouse Resource and Research Centers (MMRRC); stock number 067399-JAX
- Cryo-preserved spermatozoa available.
- Limited quantities of breeder mice (recovered litter) are available from a cryoarchive. Recovered litter is usually available to ship in 3 to 4 months.
- Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.
- K198R brain slices also available from Dr. Heike Rebholz (heike.rebholz@inserm.fr)
2. Csnk2a1 R47G
- Available from Dr. Heike Rebholz (heike.rebholz@inserm.fr)
3. Csnk2a1 Knockout
- Available through International Mouse Strain Resource (IMSR)
- Csnk2a1tm1Dcs mutation details: Part of exon 3 through exon 4 was replaced with a neo cassette deleting the critical lysine residue at amino acid position 68. This allele lacks the more abundant catalytic domain and authors state that it is a null allele (Click for author reference).
- Additional target allele detail: https://www.informatics.jax.org/allele/MGI:3769802
4. Csnk2a1 Conditional Mice
- Floxed Ck2a line - exon 2 knockout leading to a frameshift and early stop codon.
- Available from the Benveniste Lab at UAB (tika@uab.edu) and Loukil Lab at Sanford (Abdelhalim.Loukil@SanfordHealth.org).
Phenotypic and Genetic Data (Natural History)
- Available via Simons Searchlight
- Measures collected:
Measures in individuals with genetic variants | Baseline | Annual |
---|---|---|
MEDICAL RECORDS | ||
Clinical Genetic Lab Results | X | |
INTERVIEW + ONLINE SURVEYS * | ||
Medical History | X | X |
Previous Diagnosis history (neuropsychiatric) | X | X |
Medications | X | X |
ONLINE SURVEYS | ||
NDAR Global Unique Identifiers | X | |
Children's Sleep Habits Questionnaire | X | |
Simons Searchlight Sleep Supplement | X | |
Seizure History | X | X |
Vineland Adaptive Behavior Scales 3rd Edition | X | X |
Background History | X | |
Child Behavior Checklist | X | X |
Social Responsiveness Scale-2 | X | X |
Social Communication Questionnaire | X | |
Quality of Life (QI-Disability and Family Impact) | X | |
Brief Developmental Update | X | X |
Biospecimens
- Blood samples currently available via
Simons SFARI Base
Gene Information
CSNK2A1 – casein kinase 2 alpha 1
Also known as: CK2A1, CKII, Cka1, Cka2, OCNDS
Location: 20p13
Amino acid count: 391
Exon count: 14
NCBI Orthologs: ncbi.nlm.nih.gov
Leiden Open Variation Database: databases.lovd.nl
OMIM Entry: omim.org
Simple ClinVar was developed to provide gene- and disease-wise summary statistic based on all available genetic variants from ClinVar.
Protein Information
UniProt is the world’s leading high-quality, comprehensive, and freely accessible resource of protein sequence and functional information.
Crystal Structure
- Niefind et. al., “Crystal structure of human protein kinase CK2: insights into basic properties of the CK2 holoenzyme”, EMBO J. 2001 Oct 1; 20(19): 5320–5331 ncbi.nlm.nih.gov
- RCSB Protein Data Bank
Substrates
The Rebholz lab created a resource of CK2 substrates focused on the brain.
See the list.
Other Resources
List of Services
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OCNDS CK2 K198R Ion Channel Predictor and Quantitative Proteomics Database
The Schwartz lab aims to provide tools that use experimental data combined with computational approaches to better understand CK2 activity. The ion channel predictor identifies possible CK2 phosphorylation sites of both wild type and K198R CK2. The quantitative proteomics database shares the results from our TMT-labeled mass spectrometry experiments looking at five human cell lines, four of which contain a variant CK2.
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The SIGnaling Network Open Resource (Signor 3.0)
Signor is a resource that annotates experimental evidence about causal interactions between proteins and other entities of biological relevance: stimuli, phenotypes, enzyme inhibitors, complexes, protein families etc. Each entry points to the experimental evidence supporting the interaction and is enriched by additional relevant metadata such as the effect of the interaction on the activity of the target entity, the molecular mechanism underlying this effect, etc.
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Prestwick Chemical Library®List Item 1
1520 FDA-approved & EMA-approved drugs for HTS and HCS screening
A team of in-house medicinal chemists and pharmacists has committed to selecting highly relevant screening compounds for >25 years, to offer a screening collection of off-patent drugs with high chemical and pharmacological diversity, as well as known bioavailability and safety in humans.
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Connectivity Map (CMAP)
To date, CMap has generated a library containing over 1.5M gene expression profiles from ~5,000 small-molecule compounds, and ~3,000 genetic reagents, tested in multiple cell types. To produce data of that scale, we’ve developed L1000, a relatively inexpensive and rapid high-throughput gene expression profiling technology. Expression data are processed through a computational pipeline that converts raw fluorescence intensity into signatures, which can be used to query the CMap database for perturbations that give a related gene expression response.
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Alphafold Protein Structure Database
AlphaFold is an AI system developed by DeepMind that predicts a protein’s 3D structure from its amino acid sequence. It regularly achieves accuracy competitive with experiment.
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AlphaMissense
AlphaMissense is an adaptation of AlphaFold fine-tuned on human and primate variant population frequency databases to predict missense variant pathogenicity. By combining structural context and evolutionary conservation, the model achieves state-of-the-art results across a wide range of genetic and experimental benchmarks, all without explicitly training on such data.