Incidental Mutation 'R4935:Kcnc2'
ID 380314
Institutional Source Beutler Lab
Gene Symbol Kcnc2
Ensembl Gene ENSMUSG00000035681
Gene Name potassium voltage gated channel, Shaw-related subfamily, member 2
Synonyms Kv3.2, KShIIIA
MMRRC Submission 042535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4935 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 112107026-112302929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112108133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 175 (T175A)
Ref Sequence ENSEMBL: ENSMUSP00000089814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000219301]
AlphaFold Q14B80
Predicted Effect probably benign
Transcript: ENSMUST00000092175
AA Change: T175A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: T175A

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: ENSMUST00000219301
AA Change: T175A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Abcb1a T A 5: 8,787,773 (GRCm39) probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adcyap1 A T 17: 93,511,541 (GRCm39) I172L probably benign Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Frmd5 A G 2: 121,393,405 (GRCm39) V141A possibly damaging Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
H2aj T A 6: 136,785,681 (GRCm39) V115E possibly damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Mrps30 A T 13: 118,523,431 (GRCm39) F114I possibly damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plaur A T 7: 24,166,141 (GRCm39) S71C possibly damaging Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Spmap2l T C 5: 77,185,200 (GRCm39) probably null Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S 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
IGL03385:Kcnc2 APN 10 112,291,691 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGAGTATTCGCCTATGTGC -3'
(R):5'- GTTGCAACAACAGGGAATGC -3'

Sequencing Primer
(F):5'- GTGCTCAATTACTACCGCACGG -3'
(R):5'- GGAATGCTAGATTCAGGTCTTACCC -3'
Posted On 2016-04-15