Incidental Mutation 'IGL01950:Kcnc2'
ID181299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnc2
Ensembl Gene ENSMUSG00000035681
Gene Namepotassium voltage gated channel, Shaw-related subfamily, member 2
SynonymsKv3.2, KShIIIA
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01950
Quality Score
Status
Chromosome10
Chromosomal Location112271121-112467024 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to G at 112462075 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000218445] [ENSMUST00000218827] [ENSMUST00000219301] [ENSMUST00000219607]
Predicted Effect probably benign
Transcript: ENSMUST00000092175
SMART Domains Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681

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 unknown
Transcript: ENSMUST00000219301
AA Change: S635A
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm G A 7: 110,628,900 R96H probably damaging Het
Aebp1 C T 11: 5,869,108 T198I probably benign Het
Arhgap8 G A 15: 84,766,349 A237T probably benign Het
Arid3b A T 9: 57,794,974 I500N probably damaging Het
Clec1b T A 6: 129,400,080 W29R probably damaging Het
Cyp2e1 T C 7: 140,764,961 probably null Het
Dnah5 A G 15: 28,290,289 E1275G probably null Het
Dnajc13 A T 9: 104,190,432 I1171N possibly damaging Het
Dpf3 T G 12: 83,324,949 T171P probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Hk1 T C 10: 62,315,394 D57G probably damaging Het
Kcnj11 A T 7: 46,099,149 F250Y probably damaging Het
Kirrel3 C T 9: 35,028,329 probably benign Het
Lmbrd1 T C 1: 24,711,602 probably null Het
Mga T C 2: 119,941,654 V1665A possibly damaging Het
Ms4a3 G T 19: 11,632,835 A121E probably damaging Het
Nfix T C 8: 84,713,786 *392W probably null Het
Noxred1 C T 12: 87,221,416 V314M probably damaging Het
Olfr328 A T 11: 58,551,734 C168* probably null Het
Olfr611 T A 7: 103,518,265 T40S probably benign Het
Phospho1 A G 11: 95,828,722 probably benign Het
Rev3l C T 10: 39,821,157 T550M probably damaging Het
Sbf2 A G 7: 110,365,825 F955L probably benign Het
Slc38a9 C T 13: 112,695,253 T179M probably damaging Het
Trpv5 T G 6: 41,675,978 D87A probably benign Het
Tubgcp5 A G 7: 55,806,088 Q288R possibly damaging Het
Uqcc1 A G 2: 155,858,138 Y172H probably damaging Het
Vmn2r23 T C 6: 123,741,886 F733L possibly damaging Het
Vmn2r71 A G 7: 85,615,619 Y53C probably damaging Het
Vwa5a T A 9: 38,726,970 M263K probably damaging Het
Zfp503 C A 14: 21,986,420 A143S probably benign Het
Zfp958 T C 8: 4,628,917 L314P probably damaging Het
Other mutations in Kcnc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Kcnc2 APN 10 112461988 missense probably damaging 0.99
IGL00595:Kcnc2 APN 10 112461987 missense probably benign 0.04
IGL01646:Kcnc2 APN 10 112272406 critical splice donor site probably null
IGL02036:Kcnc2 APN 10 112455926 missense possibly damaging 0.94
IGL02164:Kcnc2 APN 10 112455685 missense possibly damaging 0.92
IGL02447:Kcnc2 APN 10 112455946 missense probably damaging 1.00
IGL03087:Kcnc2 APN 10 112455747 missense probably benign 0.19
IGL03385:Kcnc2 APN 10 112455786 missense probably damaging 1.00
R0133:Kcnc2 UTSW 10 112458597 missense probably damaging 1.00
R1444:Kcnc2 UTSW 10 112455601 unclassified probably benign
R1474:Kcnc2 UTSW 10 112456400 missense probably damaging 1.00
R2221:Kcnc2 UTSW 10 112456526 missense probably damaging 1.00
R4504:Kcnc2 UTSW 10 112455794 missense probably damaging 1.00
R4714:Kcnc2 UTSW 10 112455828 missense possibly damaging 0.82
R4935:Kcnc2 UTSW 10 112272228 missense probably benign 0.00
R6168:Kcnc2 UTSW 10 112455756 missense probably benign 0.13
R6338:Kcnc2 UTSW 10 112271856 missense probably benign 0.04
R6375:Kcnc2 UTSW 10 112463189 missense possibly damaging 0.92
R6511:Kcnc2 UTSW 10 112462067 intron probably benign
R6516:Kcnc2 UTSW 10 112462000 missense probably benign 0.00
R6556:Kcnc2 UTSW 10 112271856 missense probably benign 0.04
R6609:Kcnc2 UTSW 10 112271856 missense probably benign 0.04
R6610:Kcnc2 UTSW 10 112271856 missense probably benign 0.04
R6612:Kcnc2 UTSW 10 112271856 missense probably benign 0.04
R6837:Kcnc2 UTSW 10 112458502 missense probably damaging 0.96
R7151:Kcnc2 UTSW 10 112458509 missense possibly damaging 0.46
R7715:Kcnc2 UTSW 10 112271940 nonsense probably null
Z1177:Kcnc2 UTSW 10 112272306 missense probably damaging 0.99
Posted On2014-05-07