Kcna2 - SNV Details



 Gene Information 
Gene Name Kcna2
Old Gene Names for Kcna2 Kca1-2 , Mk-2
Gene Description potassium voltage-gated channel, shaker-related subfamily, member 2 [Source:MGI Symbol;Acc:MGI:96659]
MGI phenotype Mice homozygous for a null allele exhibit postnatal lethality, increased susceptibility to spontaneous and chemically-induced seizures and altered neuron electrophysiology. Mice homozygous for an ENU-induced allele exhibit abnormal gait, impaired coordination, and premature lethality.
Uniprot Name
CCDS Name
Gene GO
juxtaparanode region of axon; regulation of ion transmembrane transport; optic nerve structural organization; membrane; potassium ion transmembrane transport; delayed rectifier potassium channel activity; protein oligomerization; protein binding; ion channel activity; ion transport; protein homooligomerization; transmembrane transport; outward rectifier potassium channel activity; voltage-gated potassium channel complex
Homolog in other species KCNA2
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040724
Chromosome 3
Coordinate 107,104,630     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 91
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL00164
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability