Kcnc2 - SNV Details



 Gene Information 
Gene Name Kcnc2
Old Gene Names for Kcnc2 Aw047325
Gene Description potassium voltage gated channel, Shaw-related subfamily, member 2 [Source:MGI Symbol;Acc:MGI:96668]
MGI phenotype Mice homozygous for a knock-out allele display impaired fast spiking in cortical interneurons, distorted cortical rhythmic activity, enhanced susceptibility to seizures, increased anxiety in the open field, and abnormal sleep patterns.
Uniprot Name
CCDS Name
Gene GO
membrane; protein binding; ion channel activity; ion transport; voltage-gated potassium channel activity; regulation of action potential; protein homooligomerization; transmembrane transport; voltage-gated potassium channel complex
Homolog in other species KCNC2
Omim http://omim.org/entry/176256
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035681
Chromosome 10
Coordinate 112,455,926     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Acc
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.60
A:V0.40
Amino Acid Position 340
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL02036
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.12
Polyphen Prediction Benign
Sift Score 0.08
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000089814:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ion transport domain Ion_trans_dom IPR005821 ENSMUSP00000089814 Pfam 289
476 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved