Cacna2d2 - SNV Details



 Human Rare Diseases 
Early infantile epileptic encephalopathy

 Gene Information 
Gene Name Cacna2d2
Gene Description calcium channel, voltage-dependent, alpha 2/delta subunit 2 [Source:MGI Symbol;Acc:MGI:1929813]
Uniprot Name
CCDS Name
Gene GO
metal ion binding; neuromuscular junction development; rhythmic synaptic transmission; calcium ion transport; protein binding; SRP-dependent cotranslational protein targeting to membrane; positive regulation of organ growth; muscle fiber development; GTP binding; voltage-gated calcium channel complex; regulation of multicellular organism growth; voltage-gated calcium channel activity
Homolog in other species CACNA2D2
Omim http://omim.org/entry/607082
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000010066
Chromosome 9
Coordinate 107,514,048     (Assembly: GRCm38)    
Ref Base C
Codon Change Cgt/Tgt
Var Base T
Zygosity Heterozygous
Read Depth 73
Allele Frequency
C:R0.47
T:V0.53
Amino Acid Position 425
Amino Acid Change R->C (Arginine -> Cysteine)
Sample ID IGL02213
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000010210:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
von Willebrand factor, type A VWF_A IPR002035 ENSMUSP00000010210 Smart 292
467 Description available Search pathways
von Willebrand factor, type A VWF_A IPR002035 ENSMUSP00000010210 Prosite_profiles 294
472 Description available Search pathways
von Willebrand factor, type A VWF_A IPR002035 ENSMUSP00000010210 Pfam 294
458 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved