Incidental Mutation 'R1615:Kcnv1'
ID 177074
Institutional Source Beutler Lab
Gene Symbol Kcnv1
Ensembl Gene ENSMUSG00000022342
Gene Name potassium channel, subfamily V, member 1
Synonyms 2700023A03Rik
MMRRC Submission 039652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1615 (G1)
Quality Score 179
Status Validated
Chromosome 15
Chromosomal Location 44969680-44978316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44977840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 66 (T66M)
Ref Sequence ENSEMBL: ENSMUSP00000022967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022967]
AlphaFold Q8BZN2
Predicted Effect probably damaging
Transcript: ENSMUST00000022967
AA Change: T66M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: T66M

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 0.9059 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (64/65)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,743,625 (GRCm39) C328S probably benign Het
Adgrv1 G T 13: 81,572,407 (GRCm39) T4918K probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Amer3 T C 1: 34,627,252 (GRCm39) M497T probably damaging Het
Arid2 C T 15: 96,269,535 (GRCm39) T1216M possibly damaging Het
Birc6 A G 17: 74,916,404 (GRCm39) probably null Het
Bzw2 A G 12: 36,169,126 (GRCm39) probably benign Het
Ccr1 T C 9: 123,763,573 (GRCm39) H319R probably benign Het
Dnah11 A G 12: 118,014,457 (GRCm39) I2010T probably damaging Het
Dnhd1 A G 7: 105,352,413 (GRCm39) Y2522C probably benign Het
Dnhd1 T A 7: 105,362,913 (GRCm39) I3825K possibly damaging Het
Dst A T 1: 34,238,452 (GRCm39) D3718V probably damaging Het
Esp36 A G 17: 38,730,330 (GRCm39) probably benign Het
Fbxw21 T C 9: 108,972,794 (GRCm39) Y380C probably damaging Het
Fhad1 G A 4: 141,649,634 (GRCm39) T836M probably damaging Het
Fhod1 C T 8: 106,074,463 (GRCm39) probably benign Het
Flt1 A G 5: 147,576,098 (GRCm39) C637R probably damaging Het
Fmnl2 A G 2: 53,008,436 (GRCm39) K809E probably damaging Het
Grm1 G T 10: 10,617,252 (GRCm39) Y510* probably null Het
Hey1 A T 3: 8,729,898 (GRCm39) H186Q possibly damaging Het
Insyn1 C T 9: 58,406,351 (GRCm39) A87V probably damaging Het
Itga2b C T 11: 102,350,963 (GRCm39) probably null Het
Lmcd1 A G 6: 112,250,911 (GRCm39) D7G probably benign Het
Lrrc1 T C 9: 77,342,400 (GRCm39) D358G possibly damaging Het
Lyn A G 4: 3,748,765 (GRCm39) K248E probably benign Het
Map4k4 A G 1: 40,045,990 (GRCm39) probably benign Het
Map4k5 A T 12: 69,891,187 (GRCm39) L160H probably damaging Het
Mtcl2 T G 2: 156,862,663 (GRCm39) H1422P probably damaging Het
Myo6 C T 9: 80,215,007 (GRCm39) R1247C probably damaging Het
Myo9a A G 9: 59,695,739 (GRCm39) E347G possibly damaging Het
Ndfip1 C T 18: 38,593,672 (GRCm39) P213S probably benign Het
Neurl3 T C 1: 36,308,470 (GRCm39) E114G possibly damaging Het
Nlrp14 A T 7: 106,795,370 (GRCm39) I877F probably benign Het
Obscn A G 11: 58,990,651 (GRCm39) S1733P probably benign Het
Oxgr1 A T 14: 120,260,185 (GRCm39) S7R probably benign Het
Plcb1 A T 2: 135,204,364 (GRCm39) probably benign Het
Prkag2 G T 5: 25,080,176 (GRCm39) N120K possibly damaging Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Saraf A G 8: 34,632,442 (GRCm39) K174E possibly damaging Het
Scrib T C 15: 75,938,054 (GRCm39) Q264R probably benign Het
Sh3rf3 T A 10: 58,966,899 (GRCm39) M747K probably benign Het
Shf T C 2: 122,179,913 (GRCm39) H421R probably damaging Het
Slc35g3 A G 11: 69,651,368 (GRCm39) S228P probably damaging Het
Slit1 A G 19: 41,639,110 (GRCm39) probably benign Het
Srrm4 A G 5: 116,585,359 (GRCm39) probably benign Het
Stfa1 T G 16: 36,100,829 (GRCm39) V23G probably damaging Het
Swap70 A G 7: 109,872,498 (GRCm39) D371G probably benign Het
Tada2a T C 11: 83,993,926 (GRCm39) D186G probably damaging Het
Tdpoz3 C A 3: 93,733,618 (GRCm39) Q98K probably benign Het
Tgfbrap1 A G 1: 43,091,145 (GRCm39) V660A probably benign Het
Tnn A G 1: 159,945,978 (GRCm39) Y947H possibly damaging Het
Trim60 A T 8: 65,453,162 (GRCm39) C362* probably null Het
Vmn1r81 T A 7: 11,994,441 (GRCm39) N56Y probably damaging Het
Vsig8 A G 1: 172,387,280 (GRCm39) D52G probably damaging Het
Wdfy4 G A 14: 32,764,469 (GRCm39) R2140C 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
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
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
Predicted Primers PCR Primer
(F):5'- ACATAACGGAACGCCTGAGAGC -3'
(R):5'- GGAACAGACTGTGTATCCTGGGTTG -3'

Sequencing Primer
(F):5'- CTGCGATCAAAGAAGTACTCGTTG -3'
(R):5'- AACTTCCCAGTGCCTTCAGG -3'
Posted On 2014-04-24