Incidental Mutation 'R5980:Kcnv1'
ID 481399
Institutional Source Beutler Lab
Gene Symbol Kcnv1
Ensembl Gene ENSMUSG00000022342
Gene Name potassium channel, subfamily V, member 1
Synonyms 2700023A03Rik
MMRRC Submission 044162-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5980 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 44969680-44978316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44972810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 358 (V358L)
Ref Sequence ENSEMBL: ENSMUSP00000022967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022967]
AlphaFold Q8BZN2
Predicted Effect probably damaging
Transcript: ENSMUST00000022967
AA Change: V358L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: V358L

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
Meta Mutation Damage Score 0.1614 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 96% (50/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,544,018 (GRCm39) N508D possibly damaging Het
Ago1 C T 4: 126,354,362 (GRCm39) probably benign Het
Apol6 A T 15: 76,935,219 (GRCm39) T163S possibly damaging Het
Arhgap27 T C 11: 103,247,095 (GRCm39) T33A probably benign Het
Atg7 C A 6: 114,657,197 (GRCm39) F132L possibly damaging Het
Cep104 C A 4: 154,072,930 (GRCm39) A396E probably benign Het
Cers4 T A 8: 4,568,269 (GRCm39) C107* probably null Het
Cntn6 T C 6: 104,825,093 (GRCm39) S878P probably damaging Het
Dnah6 T C 6: 73,158,705 (GRCm39) K633E probably benign Het
Dst T A 1: 34,221,972 (GRCm39) I2592K probably benign Het
Ep400 G A 5: 110,881,595 (GRCm39) probably benign Het
Fbn1 A G 2: 125,157,324 (GRCm39) C2320R probably damaging Het
Gpi1 A G 7: 33,928,351 (GRCm39) probably null Het
Gse1 T G 8: 120,956,376 (GRCm39) probably benign Het
Hid1 G A 11: 115,241,774 (GRCm39) T612I possibly damaging Het
Ighmbp2 G T 19: 3,315,295 (GRCm39) H708Q probably benign Het
Igkv10-95 T C 6: 68,657,573 (GRCm39) S10P probably damaging Het
Igkv14-100 T C 6: 68,496,009 (GRCm39) V5A probably benign Het
Irgq G A 7: 24,232,770 (GRCm39) G204S probably damaging Het
Kansl1 T C 11: 104,234,463 (GRCm39) K681R possibly damaging Het
Lrp2 A T 2: 69,365,349 (GRCm39) S275T probably damaging Het
Lysmd1 A T 3: 95,045,219 (GRCm39) D155V probably damaging Het
Magel2 A T 7: 62,030,344 (GRCm39) I1083F unknown Het
Mta3 T A 17: 84,015,834 (GRCm39) V12D probably damaging Het
Mtmr4 T C 11: 87,494,977 (GRCm39) I423T probably damaging Het
Mup11 A G 4: 60,616,887 (GRCm39) Y16H possibly damaging Het
Mycbp G A 4: 123,804,889 (GRCm39) V91I probably benign Het
Ngly1 A C 14: 16,270,509 (GRCm38) Q72P possibly damaging Het
Nol4 T A 18: 23,085,258 (GRCm39) Q52L probably damaging Het
Nrcam T C 12: 44,618,416 (GRCm39) V808A probably damaging Het
Or10p22 A G 10: 128,826,309 (GRCm39) H176R probably damaging Het
Or5ak23 A T 2: 85,244,509 (GRCm39) F238Y probably damaging Het
Or8k24 A T 2: 86,216,141 (GRCm39) L207* probably null Het
Pate10 A C 9: 35,652,911 (GRCm39) D51A probably damaging Het
Pik3c2b C A 1: 133,016,046 (GRCm39) D869E probably benign Het
Pom121l2 T C 13: 22,167,546 (GRCm39) S606P probably damaging Het
Prdm15 G A 16: 97,613,770 (GRCm39) R517* probably null Het
Ralgapa1 T A 12: 55,817,401 (GRCm39) probably null Het
Saraf T A 8: 34,632,541 (GRCm39) F207I probably benign Het
Sema6d A G 2: 124,506,628 (GRCm39) D874G probably damaging Het
Sfrp5 A T 19: 42,190,411 (GRCm39) L14M unknown Het
Sidt1 A T 16: 44,083,675 (GRCm39) C485* probably null Het
Sptbn4 A G 7: 27,071,596 (GRCm39) Y1618H probably damaging Het
Syt14 T C 1: 192,662,716 (GRCm39) Q127R possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Ticrr G A 7: 79,310,703 (GRCm39) A206T probably damaging Het
Tmem132d T A 5: 127,861,662 (GRCm39) I820F probably benign Het
Trafd1 A G 5: 121,511,520 (GRCm39) Y433H probably damaging Het
Trim68 A G 7: 102,328,038 (GRCm39) V305A probably damaging Het
Vmn2r58 T A 7: 41,514,480 (GRCm39) Y163F possibly damaging Het
Vmn2r83 T A 10: 79,314,626 (GRCm39) H291Q probably benign Het
Vmn2r95 A G 17: 18,661,624 (GRCm39) I457V probably benign 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
IGL02472:Kcnv1 APN 15 44,972,519 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GCCAAGACAAGGATTCCTGACAG -3'
(R):5'- TATCCCCAGAACATTGCTCATC -3'

Sequencing Primer
(F):5'- GGATTCCTGACAGAATACACATG -3'
(R):5'- CCCAGAACATTGCTCATCATATTAG -3'
Posted On 2017-06-26