Incidental Mutation 'IGL03087:Kcnc2'
ID 418140
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 # IGL03087
Quality Score
Status
Chromosome 10
Chromosomal Location 112107026-112302929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112291652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 280 (I280N)
Ref Sequence ENSEMBL: ENSMUSP00000089814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000218445] [ENSMUST00000218827] [ENSMUST00000219301] [ENSMUST00000219607]
AlphaFold Q14B80
Predicted Effect probably benign
Transcript: ENSMUST00000092175
AA Change: I280N

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: I280N

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 probably benign
Transcript: ENSMUST00000219301
AA Change: I280N

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 25,202,630 (GRCm39) probably benign Het
Acbd5 A G 2: 22,979,722 (GRCm39) T261A probably benign Het
Ap1g2 G A 14: 55,340,493 (GRCm39) T331I probably damaging Het
Ap4m1 A G 5: 138,173,066 (GRCm39) T150A probably benign Het
Arid4a G T 12: 71,122,019 (GRCm39) R478L possibly damaging Het
Bard1 T C 1: 71,106,289 (GRCm39) D446G probably damaging Het
Baz2a T C 10: 127,958,182 (GRCm39) L1087P probably damaging Het
Bnc1 A G 7: 81,624,390 (GRCm39) L279P possibly damaging Het
Bphl A T 13: 34,257,694 (GRCm39) H275L probably damaging Het
Ces1c T C 8: 93,845,042 (GRCm39) I120V probably benign Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
Dnah8 G A 17: 31,003,118 (GRCm39) V3606I probably benign Het
Eef2 A G 10: 81,017,081 (GRCm39) N696S probably benign Het
Eno4 A G 19: 58,951,248 (GRCm39) H420R possibly damaging Het
Enpp1 T A 10: 24,531,779 (GRCm39) probably benign Het
Fbxo25 T C 8: 13,974,019 (GRCm39) probably null Het
Glt8d1 T A 14: 30,732,053 (GRCm39) F155I probably damaging Het
Golim4 A T 3: 75,785,980 (GRCm39) H598Q possibly damaging Het
Hnrnpdl T A 5: 100,185,460 (GRCm39) E149D probably damaging Het
Ifngr2 G T 16: 91,359,892 (GRCm39) *333L probably null Het
Ift88 T C 14: 57,715,414 (GRCm39) S486P probably benign Het
Igsf9 T C 1: 172,318,310 (GRCm39) I150T probably benign Het
Jag2 G A 12: 112,877,568 (GRCm39) L670F possibly damaging Het
Kif18a A G 2: 109,148,462 (GRCm39) probably benign Het
Lct A G 1: 128,228,112 (GRCm39) L1127P possibly damaging Het
Lonrf1 A T 8: 36,692,705 (GRCm39) probably null Het
Lyst T A 13: 13,809,641 (GRCm39) I437N probably damaging Het
Map3k1 A G 13: 111,885,559 (GRCm39) S1453P probably benign Het
Mcmdc2 A G 1: 10,001,170 (GRCm39) M482V possibly damaging Het
Mical1 T C 10: 41,358,686 (GRCm39) S535P probably damaging Het
Myh3 T C 11: 66,981,798 (GRCm39) F765L probably damaging Het
Nat8f6 A T 6: 85,785,499 (GRCm39) Y217N probably damaging Het
Ndufaf1 A G 2: 119,486,280 (GRCm39) probably benign Het
Neurod6 A T 6: 55,655,760 (GRCm39) C292* probably null Het
Or12j3 T A 7: 139,953,005 (GRCm39) I173F probably damaging Het
Or4c12b A G 2: 89,647,015 (GRCm39) E109G probably damaging Het
Or5j1 A T 2: 86,879,356 (GRCm39) S75T possibly damaging Het
Or6c76 A T 10: 129,612,130 (GRCm39) M116L probably damaging Het
Or7g16 T C 9: 18,727,380 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,735 (GRCm39) N572D probably damaging Het
Pfpl A G 19: 12,406,241 (GRCm39) N164S probably benign Het
Pi4kb A G 3: 94,892,075 (GRCm39) R264G probably benign Het
Pla2g2c T A 4: 138,458,923 (GRCm39) F10I probably benign Het
Rag2 G A 2: 101,460,559 (GRCm39) V290I probably benign Het
Rhot2 G A 17: 26,060,115 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,603,908 (GRCm39) Y238C probably damaging Het
Scyl2 G T 10: 89,488,830 (GRCm39) A495D possibly damaging Het
Septin4 T A 11: 87,476,071 (GRCm39) probably benign Het
Serpina5 G T 12: 104,067,992 (GRCm39) A18S probably benign Het
Slc25a11 T C 11: 70,536,033 (GRCm39) T234A probably benign Het
Slc44a2 C T 9: 21,258,061 (GRCm39) T435I probably benign Het
Tekt2 T A 4: 126,218,660 (GRCm39) Q31L possibly damaging Het
Tfpi A G 2: 84,274,389 (GRCm39) V199A possibly damaging Het
Trap1 G T 16: 3,862,565 (GRCm39) probably null Het
Trmt1 A G 8: 85,421,862 (GRCm39) Y213C probably damaging Het
Ubr4 C T 4: 139,177,668 (GRCm39) R3184* probably null Het
Uroc1 G T 6: 90,340,085 (GRCm39) probably benign Het
Vmn1r19 A G 6: 57,381,476 (GRCm39) I10V probably benign Het
Zfhx2 G A 14: 55,310,302 (GRCm39) A748V possibly 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
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
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