Incidental Mutation 'IGL03385:Kcnc2'
ID 420832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnc2
Ensembl Gene ENSMUSG00000035681
Gene Name potassium voltage gated channel, Shaw-related subfamily, member 2
Synonyms Kv3.2, KShIIIA
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03385
Quality Score
Status
Chromosome 10
Chromosomal Location 112107026-112302929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 112291691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 293 (C293Y)
Ref Sequence ENSEMBL: ENSMUSP00000089814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000218445] [ENSMUST00000218827] [ENSMUST00000219301] [ENSMUST00000219607]
AlphaFold Q14B80
Predicted Effect probably damaging
Transcript: ENSMUST00000092175
AA Change: C293Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: C293Y

DomainStartEndE-ValueType
BTB 8 163 2.53e-17 SMART
Pfam:Ion_trans 232 488 1e-46 PFAM
Pfam:Ion_trans_2 388 481 5.8e-13 PFAM
low complexity region 552 568 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218445
Predicted Effect probably benign
Transcript: ENSMUST00000218827
Predicted Effect possibly damaging
Transcript: ENSMUST00000219301
AA Change: C293Y

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000219607
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,555,044 (GRCm39) T444A probably benign Het
Cdh20 A G 1: 109,993,516 (GRCm39) T324A possibly damaging Het
Col14a1 C A 15: 55,273,600 (GRCm39) T723K unknown Het
Col14a1 G A 15: 55,335,104 (GRCm39) G1513S unknown Het
Col1a2 C A 6: 4,539,612 (GRCm39) N1293K unknown Het
Ctdp1 T C 18: 80,493,133 (GRCm39) D454G probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 A G 5: 92,216,254 (GRCm39) V94A probably damaging Het
Gm973 A G 1: 59,621,629 (GRCm39) S590G probably benign Het
Gon4l A T 3: 88,814,850 (GRCm39) T1940S probably benign Het
Itk G A 11: 46,222,688 (GRCm39) Q594* probably null Het
Krit1 A G 5: 3,857,452 (GRCm39) I86V possibly damaging Het
Lyst T A 13: 13,831,565 (GRCm39) L1663* probably null Het
Moxd2 T C 6: 40,855,952 (GRCm39) T546A probably damaging Het
Myo7b G T 18: 32,122,630 (GRCm39) Q717K probably benign Het
Or2a51 T C 6: 43,178,914 (GRCm39) V112A probably benign Het
Or2ad1 A G 13: 21,326,657 (GRCm39) V190A probably benign Het
Ostm1 A C 10: 42,574,140 (GRCm39) N123H probably damaging Het
Pcdh10 A C 3: 45,335,947 (GRCm39) S754R possibly damaging Het
Pomt2 A T 12: 87,163,330 (GRCm39) L613Q probably damaging Het
Samd9l T A 6: 3,376,208 (GRCm39) N351I probably damaging Het
Serpinb9 T C 13: 33,191,979 (GRCm39) probably benign Het
Slc12a4 T A 8: 106,677,496 (GRCm39) probably benign Het
Smgc T A 15: 91,726,181 (GRCm39) H42Q possibly damaging Het
Tor1a A G 2: 30,853,739 (GRCm39) V197A possibly damaging Het
Ttc4 A G 4: 106,525,397 (GRCm39) S246P probably benign Het
Tti1 G A 2: 157,834,945 (GRCm39) A1005V possibly damaging Het
Ugt3a1 A T 15: 9,338,824 (GRCm39) I63F probably damaging Het
Other mutations in Kcnc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Kcnc2 APN 10 112,297,892 (GRCm39) missense probably benign 0.04
IGL00595:Kcnc2 APN 10 112,297,893 (GRCm39) missense probably damaging 0.99
IGL01646:Kcnc2 APN 10 112,108,311 (GRCm39) critical splice donor site probably null
IGL01950:Kcnc2 APN 10 112,297,980 (GRCm39) intron probably benign
IGL02036:Kcnc2 APN 10 112,291,831 (GRCm39) missense possibly damaging 0.94
IGL02164:Kcnc2 APN 10 112,291,590 (GRCm39) missense possibly damaging 0.92
IGL02447:Kcnc2 APN 10 112,291,851 (GRCm39) missense probably damaging 1.00
IGL03087:Kcnc2 APN 10 112,291,652 (GRCm39) missense probably benign 0.19
R0133:Kcnc2 UTSW 10 112,294,502 (GRCm39) missense probably damaging 1.00
R1444:Kcnc2 UTSW 10 112,291,506 (GRCm39) unclassified probably benign
R1474:Kcnc2 UTSW 10 112,292,305 (GRCm39) missense probably damaging 1.00
R2221:Kcnc2 UTSW 10 112,292,431 (GRCm39) missense probably damaging 1.00
R4504:Kcnc2 UTSW 10 112,291,699 (GRCm39) missense probably damaging 1.00
R4714:Kcnc2 UTSW 10 112,291,733 (GRCm39) missense possibly damaging 0.82
R4935:Kcnc2 UTSW 10 112,108,133 (GRCm39) missense probably benign 0.00
R6168:Kcnc2 UTSW 10 112,291,661 (GRCm39) missense probably benign 0.13
R6338:Kcnc2 UTSW 10 112,107,761 (GRCm39) missense probably benign 0.04
R6375:Kcnc2 UTSW 10 112,299,094 (GRCm39) missense possibly damaging 0.92
R6511:Kcnc2 UTSW 10 112,297,972 (GRCm39) intron probably benign
R6516:Kcnc2 UTSW 10 112,297,905 (GRCm39) missense probably benign 0.00
R6556:Kcnc2 UTSW 10 112,107,761 (GRCm39) missense probably benign 0.04
R6609:Kcnc2 UTSW 10 112,107,761 (GRCm39) missense probably benign 0.04
R6610:Kcnc2 UTSW 10 112,107,761 (GRCm39) missense probably benign 0.04
R6612:Kcnc2 UTSW 10 112,107,761 (GRCm39) missense probably benign 0.04
R6837:Kcnc2 UTSW 10 112,294,407 (GRCm39) missense probably damaging 0.96
R7151:Kcnc2 UTSW 10 112,294,414 (GRCm39) missense possibly damaging 0.46
R7715:Kcnc2 UTSW 10 112,107,845 (GRCm39) nonsense probably null
R8506:Kcnc2 UTSW 10 112,291,537 (GRCm39) missense probably damaging 1.00
R8544:Kcnc2 UTSW 10 112,292,101 (GRCm39) missense probably damaging 1.00
R8782:Kcnc2 UTSW 10 112,292,437 (GRCm39) missense probably benign 0.00
R9013:Kcnc2 UTSW 10 112,107,723 (GRCm39) missense probably damaging 1.00
Z1177:Kcnc2 UTSW 10 112,108,211 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02