Incidental Mutation 'R8782:Kcnc2'
ID 670339
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 068630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8782 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 112107026-112302929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112292437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 542 (S542T)
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: S542T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: S542T

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
AA Change: S140T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably damaging
Transcript: ENSMUST00000218827
AA Change: S64T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000219301
AA Change: S542T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably damaging
Transcript: ENSMUST00000219607
AA Change: S93T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.0589 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (73/74)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A G 9: 55,910,242 (GRCm39) probably null Het
Abhd16b G T 2: 181,136,208 (GRCm39) R370L probably benign Het
Acox2 T A 14: 8,250,035 (GRCm38) T342S probably damaging Het
Adamts12 A T 15: 11,237,678 (GRCm39) Q329L probably damaging Het
Aimp1 T C 3: 132,373,242 (GRCm39) M233V possibly damaging Het
Atg16l1 A G 1: 87,714,010 (GRCm39) T474A possibly damaging Het
Atp1a1 T C 3: 101,501,533 (GRCm39) T57A possibly damaging Het
Bcat2 A G 7: 45,234,917 (GRCm39) D205G probably benign Het
Brd1 G T 15: 88,614,834 (GRCm39) C20* probably null Het
Camsap2 T C 1: 136,204,957 (GRCm39) M519V Het
Caprin1 T A 2: 103,603,133 (GRCm39) T477S probably benign Het
Cdk5rap2 G T 4: 70,161,712 (GRCm39) Q1516K possibly damaging Het
Cep97 T C 16: 55,726,084 (GRCm39) D673G probably benign Het
Chat A T 14: 32,146,155 (GRCm39) D339E probably benign Het
Col28a1 G A 6: 8,175,227 (GRCm39) S207F unknown Het
Commd10 T A 18: 47,096,809 (GRCm39) L72Q probably damaging Het
Crim1 T C 17: 78,508,306 (GRCm39) C37R probably damaging Het
Csgalnact1 T A 8: 68,811,307 (GRCm39) K454N probably damaging Het
Ctif G T 18: 75,654,868 (GRCm39) H219Q probably benign Het
Ddx10 A T 9: 53,146,588 (GRCm39) F211L probably damaging Het
Dhrs2 A T 14: 55,473,538 (GRCm39) I66F possibly damaging Het
Dmtf1 A T 5: 9,179,168 (GRCm39) D343E probably damaging Het
Dync2i1 C T 12: 116,205,332 (GRCm39) R419H probably damaging Het
Fam120b A T 17: 15,622,472 (GRCm39) Q150L probably damaging Het
Fam217a G A 13: 35,095,033 (GRCm39) P242L probably benign Het
Gcnt2 A G 13: 41,072,229 (GRCm39) T291A probably damaging Het
Gm14305 T G 2: 176,413,213 (GRCm39) C368W possibly damaging Het
Gpr158 A G 2: 21,404,149 (GRCm39) D307G probably damaging Het
Hcls1 A G 16: 36,777,663 (GRCm39) M261V probably benign Het
Hmcn1 A G 1: 150,540,636 (GRCm39) M2891T probably benign Het
Ighv1-31 A T 12: 114,793,305 (GRCm39) W5R possibly damaging Het
Impg2 A G 16: 56,079,818 (GRCm39) T541A probably damaging Het
Ints1 A T 5: 139,744,952 (GRCm39) L1452Q probably benign Het
Kif18a C T 2: 109,127,118 (GRCm39) R351C probably damaging Het
Lactbl1 T G 4: 136,358,329 (GRCm39) L100R possibly damaging Het
Loxl3 T C 6: 83,025,051 (GRCm39) S260P probably benign Het
Lrba A T 3: 86,549,976 (GRCm39) Y2315F probably benign Het
Lrrc32 A T 7: 98,148,270 (GRCm39) N350I probably damaging Het
Lyn C A 4: 3,783,055 (GRCm39) F429L probably damaging Het
Matk A G 10: 81,098,294 (GRCm39) K402E probably damaging Het
Mau2 T C 8: 70,485,845 (GRCm39) E121G possibly damaging Het
Mrgprx2 A G 7: 48,132,299 (GRCm39) L173P probably damaging Het
Mroh1 A G 15: 76,298,496 (GRCm39) T369A possibly damaging Het
Myh6 A G 14: 55,187,357 (GRCm39) L1308P possibly damaging Het
Nbeal2 T C 9: 110,459,873 (GRCm39) D1895G probably benign Het
Ncr1 A G 7: 4,340,763 (GRCm39) T6A probably benign Het
Neb T A 2: 52,078,785 (GRCm39) E5819D probably benign Het
Neurod4 T C 10: 130,106,948 (GRCm39) N109D probably damaging Het
Nsd2 A T 5: 34,000,485 (GRCm39) M1L probably benign Het
Nwd2 A G 5: 63,882,540 (GRCm39) Y64C probably damaging Het
Olfm2 T A 9: 20,579,501 (GRCm39) N417Y probably damaging Het
Oog3 T A 4: 143,885,962 (GRCm39) D212V probably benign Het
Or13c25 T A 4: 52,911,693 (GRCm39) M34L probably benign Het
Or5p1 A T 7: 107,916,296 (GRCm39) H65L probably damaging Het
Parp1 A G 1: 180,417,127 (GRCm39) K637R probably benign Het
Pcdhga3 T C 18: 37,807,865 (GRCm39) L106P probably damaging Het
Pdk4 T C 6: 5,494,962 (GRCm39) N67S possibly damaging Het
Plcxd3 A G 15: 4,546,250 (GRCm39) T85A probably benign Het
Plxna1 T C 6: 89,300,220 (GRCm39) Y1621C probably damaging Het
Pnliprp1 T A 19: 58,719,025 (GRCm39) M108K probably damaging Het
Pou3f1 GCACCACCACCACCACCAC GCACCACCACCACCAC 4: 124,552,807 (GRCm39) probably benign Het
Prl8a1 A T 13: 27,758,011 (GRCm39) C233S probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Sgo2a T A 1: 58,056,616 (GRCm39) probably benign Het
Sh3tc1 A T 5: 35,871,548 (GRCm39) M328K possibly damaging Het
Sim1 A G 10: 50,772,165 (GRCm39) E58G probably benign Het
Slc35e3 A G 10: 117,580,798 (GRCm39) Y169H probably damaging Het
Slc8a1 T C 17: 81,955,442 (GRCm39) D532G probably damaging Het
Speer4a1 T A 5: 26,241,754 (GRCm39) H124L probably benign Het
Stab2 T A 10: 86,735,685 (GRCm39) T1299S probably benign Het
Tesmin T C 19: 3,445,965 (GRCm39) V237A probably benign Het
Trappc11 A T 8: 47,951,701 (GRCm39) I984N probably benign Het
Ube2q2 G A 9: 55,070,354 (GRCm39) probably null Het
Vmn1r169 A G 7: 23,277,403 (GRCm39) D265G possibly damaging Het
Vps13b G T 15: 35,422,483 (GRCm39) V148L possibly damaging Het
Vwce T C 19: 10,615,491 (GRCm39) V124A probably benign Het
Zc3h15 G A 2: 83,491,787 (GRCm39) R292H probably benign 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
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
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'- CATGCCTGTGCCTGTCATTG -3'
(R):5'- GATCCATACGCAGAATGCTACAG -3'

Sequencing Primer
(F):5'- GAATGTACTACTCCTTGGCAATGGC -3'
(R):5'- ACGCAGAATGCTACAGTCTTG -3'
Posted On 2021-04-30