Incidental Mutation 'R4504:Kcnc2'
ID 331936
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 041755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4504 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 112107026-112302929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112291699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 296 (W296R)
Ref Sequence ENSEMBL: ENSMUSP00000151579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000218445] [ENSMUST00000218827] [ENSMUST00000219301] [ENSMUST00000219607]
AlphaFold Q14B80
Predicted Effect probably damaging
Transcript: ENSMUST00000092175
AA Change: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: W296R

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 damaging
Transcript: ENSMUST00000219301
AA Change: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219607
Meta Mutation Damage Score 0.9080 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (45/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik A G 14: 44,407,899 (GRCm39) S45P probably damaging Het
Adgrg4 C T X: 55,961,802 (GRCm39) R1124C possibly damaging Het
Anxa13 T C 15: 58,228,052 (GRCm39) noncoding transcript Het
Arhgap32 C A 9: 32,093,135 (GRCm39) probably null Het
Carm1 T C 9: 21,480,822 (GRCm39) F99L probably damaging Het
Dennd1b A G 1: 139,013,665 (GRCm39) E253G possibly damaging Het
Dsg4 A G 18: 20,594,493 (GRCm39) I541V probably benign Het
Dstyk A G 1: 132,362,127 (GRCm39) T186A possibly damaging Het
Ear1 A T 14: 44,056,721 (GRCm39) V49D probably benign Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fndc8 T A 11: 82,783,226 (GRCm39) M69K probably benign Het
Golga1 T C 2: 38,913,466 (GRCm39) I482V probably benign Het
Hivep3 G A 4: 119,590,990 (GRCm39) probably benign Het
Igkv13-85 A G 6: 68,907,356 (GRCm39) F82L probably damaging Het
Itih1 G A 14: 30,657,842 (GRCm39) R410C probably damaging Het
Kcnq3 A T 15: 65,867,191 (GRCm39) Y817* probably null Het
Kif3b T C 2: 153,165,564 (GRCm39) probably null Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Lhx5 C A 5: 120,578,073 (GRCm39) H298N possibly damaging Het
Notch1 A G 2: 26,362,189 (GRCm39) V1022A probably benign Het
Npc1l1 A G 11: 6,178,741 (GRCm39) L223S possibly damaging Het
Or11m3 T C 15: 98,396,015 (GRCm39) F221L probably benign Het
Or4c10 C T 2: 89,760,695 (GRCm39) P181S possibly damaging Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Pbxip1 A G 3: 89,353,690 (GRCm39) D281G possibly damaging Het
Pcdhga8 G C 18: 37,949,816 (GRCm39) V411L probably damaging Het
Pcsk5 C T 19: 17,429,319 (GRCm39) C1553Y probably damaging Het
Pdgfc A C 3: 81,082,298 (GRCm39) M164L probably benign Het
Pdzd8 T C 19: 59,333,880 (GRCm39) Y47C probably damaging Het
Pip5k1c T A 10: 81,150,945 (GRCm39) I633N probably damaging Het
Pkn1 G A 8: 84,419,556 (GRCm39) R16* probably null Het
Pole2 A G 12: 69,269,242 (GRCm39) V85A probably benign Het
Ppp4c A C 7: 126,386,637 (GRCm39) L150R probably damaging Het
Pramel25 G C 4: 143,520,553 (GRCm39) E102Q probably benign Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Rnf144a T A 12: 26,377,302 (GRCm39) R92S probably benign Het
Sbno2 C A 10: 79,896,326 (GRCm39) R898L possibly damaging Het
Scnn1b A C 7: 121,511,698 (GRCm39) N370T probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Vps13a T C 19: 16,672,866 (GRCm39) E1302G 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21