Incidental Mutation 'IGL02164:Kcnc2'
ID282584
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 #IGL02164
Quality Score
Status
Chromosome10
Chromosomal Location112271121-112467024 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 112455685 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 259 (N259K)
Ref Sequence ENSEMBL: ENSMUSP00000089814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000218445] [ENSMUST00000218827] [ENSMUST00000219301] [ENSMUST00000219607]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092175
AA Change: N259K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: N259K

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: N259K

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik T C 13: 98,984,207 K104E probably damaging Het
4930578C19Rik T A X: 18,418,953 R421* probably null Het
5730480H06Rik T A 5: 48,380,182 V187E probably benign Het
Abcc12 T A 8: 86,527,404 D917V probably damaging Het
Abhd15 A T 11: 77,516,014 E272D probably benign Het
Adat3 T A 10: 80,606,627 S100T probably benign Het
Adgrg6 T C 10: 14,523,555 probably benign Het
Alpl C T 4: 137,753,979 V121M probably damaging Het
Ano1 A T 7: 144,637,181 Y388N possibly damaging Het
Arrdc4 C T 7: 68,739,537 probably benign Het
Asxl2 A G 12: 3,502,079 M1274V probably benign Het
BC048403 A G 10: 121,750,770 Y194C probably damaging Het
Bmt2 G T 6: 13,628,879 N268K possibly damaging Het
Bpifb2 C A 2: 153,883,562 L176M probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cd14 T C 18: 36,725,785 R206G possibly damaging Het
Cfap65 G T 1: 74,928,145 T215K possibly damaging Het
Chd9 T C 8: 90,933,221 S270P possibly damaging Het
Cidea C T 18: 67,366,511 S156L probably damaging Het
Col5a3 A G 9: 20,792,643 probably null Het
Cspg5 T C 9: 110,251,036 V424A probably damaging Het
Ctc1 A G 11: 69,026,096 H272R probably damaging Het
D5Ertd579e A T 5: 36,614,959 S697R probably damaging Het
Dennd3 T C 15: 73,544,448 S516P probably benign Het
Dlgap4 G A 2: 156,711,139 R509H probably damaging Het
Dus3l T C 17: 56,767,943 probably benign Het
Dync1h1 G T 12: 110,662,559 W4183C probably damaging Het
Eif2s3x A T X: 94,205,072 M152K possibly damaging Het
Epb41l1 C T 2: 156,494,949 probably benign Het
Ephx2 A G 14: 66,103,720 probably benign Het
Fabp12 T A 3: 10,246,015 Y129F probably damaging Het
Fat3 A G 9: 16,031,424 probably benign Het
Fat4 T C 3: 38,996,205 probably null Het
Gnb1 T A 4: 155,557,174 probably null Het
Gpr107 C A 2: 31,178,286 Y253* probably null Het
Grb10 C T 11: 11,943,962 E320K probably damaging Het
Gucy2g G T 19: 55,238,023 H154N probably benign Het
Hemk1 T A 9: 107,331,536 H154L probably benign Het
Hk2 A T 6: 82,743,939 probably null Het
Htr5a A G 5: 27,842,465 N6S probably damaging Het
Htra3 T C 5: 35,653,066 D424G probably benign Het
Ift52 A G 2: 163,025,464 probably null Het
Igdcc4 A G 9: 65,124,782 probably benign Het
Itpr1 A G 6: 108,389,483 K124E probably benign Het
Lmod2 A T 6: 24,603,910 I295F possibly damaging Het
Lrp1 T C 10: 127,563,667 E2324G probably benign Het
Lss T C 10: 76,536,260 S150P probably damaging Het
Macf1 T C 4: 123,480,272 N1515S probably benign Het
Mapk11 T C 15: 89,145,448 probably null Het
Mc3r T A 2: 172,249,394 F179I probably damaging Het
Mtmr9 T A 14: 63,530,288 N291Y probably damaging Het
Myo1h T C 5: 114,334,096 F396L probably damaging Het
Nek2 A G 1: 191,827,304 K307R probably benign Het
Olfr102 C A 17: 37,313,687 M232I probably benign Het
Osmr G A 15: 6,842,048 T296I probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pfkp C T 13: 6,597,915 V542M probably damaging Het
Pmpca C T 2: 26,395,569 S519L probably benign Het
Ptgds A T 2: 25,469,112 Y44N probably damaging Het
Raly T A 2: 154,859,929 Y116* probably null Het
Rock2 A G 12: 16,965,529 D809G probably damaging Het
Sgsm2 T G 11: 74,865,416 N369T possibly damaging Het
Slc6a15 A G 10: 103,418,222 D673G probably benign Het
Spire2 A T 8: 123,332,964 D67V probably damaging Het
St7l T C 3: 104,922,281 probably null Het
Stau2 A G 1: 16,345,828 L469P probably damaging Het
Tefm A G 11: 80,140,089 L107S probably damaging Het
Ticam1 A T 17: 56,270,019 V692D unknown Het
Tipin T A 9: 64,294,349 D143E probably damaging Het
Tmem132c C A 5: 127,536,377 T448K probably damaging Het
Trav8-1 A T 14: 53,469,756 M1L unknown Het
Ttn C A 2: 76,738,797 V27251F probably damaging Het
Uvrag A T 7: 99,004,689 C31* probably null Het
Zap70 T C 1: 36,771,186 Y126H probably damaging Het
Zfp644 A G 5: 106,638,099 V194A probably benign Het
Zfp663 C T 2: 165,359,048 W22* probably null 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
IGL01950:Kcnc2 APN 10 112462075 intron probably benign
IGL02036:Kcnc2 APN 10 112455926 missense possibly damaging 0.94
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 On2015-04-16