Incidental Mutation 'IGL02472:Kcnv1'
ID 294770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnv1
Ensembl Gene ENSMUSG00000022342
Gene Name potassium channel, subfamily V, member 1
Synonyms 2700023A03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02472
Quality Score
Status
Chromosome 15
Chromosomal Location 44969680-44978316 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 44972519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 455 (K455*)
Ref Sequence ENSEMBL: ENSMUSP00000022967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022967]
AlphaFold Q8BZN2
Predicted Effect probably null
Transcript: ENSMUST00000022967
AA Change: K455*
SMART Domains Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: K455*

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
BTB 42 160 1.17e-12 SMART
Pfam:Ion_trans 212 440 8.9e-45 PFAM
Pfam:Ion_trans_2 350 436 3.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228536
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]
PHENOTYPE: At weaning, homozygous mutant mice exhibit tetany, tremors and ataxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Kcnv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Kcnv1 APN 15 44,976,624 (GRCm39) missense probably benign 0.00
IGL02227:Kcnv1 APN 15 44,977,670 (GRCm39) missense probably damaging 1.00
IGL03239:Kcnv1 APN 15 44,972,886 (GRCm39) splice site probably benign
R0079:Kcnv1 UTSW 15 44,976,729 (GRCm39) missense probably damaging 1.00
R0534:Kcnv1 UTSW 15 44,972,645 (GRCm39) missense probably damaging 0.98
R0627:Kcnv1 UTSW 15 44,976,277 (GRCm39) splice site probably benign
R1614:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R1615:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R2942:Kcnv1 UTSW 15 44,972,581 (GRCm39) missense probably damaging 1.00
R4244:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4290:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4291:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4293:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4294:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4295:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4335:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4342:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4345:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4354:Kcnv1 UTSW 15 44,977,840 (GRCm39) missense probably damaging 1.00
R4934:Kcnv1 UTSW 15 44,972,644 (GRCm39) missense probably damaging 1.00
R5240:Kcnv1 UTSW 15 44,976,640 (GRCm39) missense probably damaging 1.00
R5295:Kcnv1 UTSW 15 44,977,987 (GRCm39) missense unknown
R5631:Kcnv1 UTSW 15 44,972,753 (GRCm39) missense probably damaging 1.00
R5669:Kcnv1 UTSW 15 44,977,648 (GRCm39) missense possibly damaging 0.71
R5762:Kcnv1 UTSW 15 44,972,518 (GRCm39) missense probably damaging 0.99
R5776:Kcnv1 UTSW 15 44,977,963 (GRCm39) missense unknown
R5787:Kcnv1 UTSW 15 44,977,726 (GRCm39) missense probably damaging 1.00
R5980:Kcnv1 UTSW 15 44,972,810 (GRCm39) missense probably damaging 0.99
R6819:Kcnv1 UTSW 15 44,972,513 (GRCm39) missense probably damaging 0.99
R6851:Kcnv1 UTSW 15 44,972,594 (GRCm39) missense probably damaging 1.00
R6997:Kcnv1 UTSW 15 44,977,997 (GRCm39) missense unknown
R7254:Kcnv1 UTSW 15 44,976,604 (GRCm39) missense probably benign 0.00
R7258:Kcnv1 UTSW 15 44,972,711 (GRCm39) missense probably damaging 0.99
R7272:Kcnv1 UTSW 15 44,976,576 (GRCm39) missense probably benign 0.00
R7367:Kcnv1 UTSW 15 44,972,638 (GRCm39) missense probably damaging 1.00
R7995:Kcnv1 UTSW 15 44,972,743 (GRCm39) missense probably damaging 1.00
R8271:Kcnv1 UTSW 15 44,972,754 (GRCm39) missense probably benign 0.00
R8725:Kcnv1 UTSW 15 44,977,999 (GRCm39) missense unknown
R8727:Kcnv1 UTSW 15 44,977,999 (GRCm39) missense unknown
R8730:Kcnv1 UTSW 15 44,972,797 (GRCm39) missense probably damaging 0.99
R8754:Kcnv1 UTSW 15 44,977,865 (GRCm39) nonsense probably null
R9162:Kcnv1 UTSW 15 44,972,450 (GRCm39) missense possibly damaging 0.91
R9686:Kcnv1 UTSW 15 44,972,500 (GRCm39) missense probably benign 0.00
R9796:Kcnv1 UTSW 15 44,977,987 (GRCm39) missense unknown
X0026:Kcnv1 UTSW 15 44,972,863 (GRCm39) missense possibly damaging 0.69
Z1177:Kcnv1 UTSW 15 44,977,831 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16