Incidental Mutation 'R5762:Kcnv1'
ID 446080
Institutional Source Beutler Lab
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 # R5762 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 44969680-44978316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44972518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 455 (K455R)
Ref Sequence ENSEMBL: ENSMUSP00000022967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022967]
AlphaFold Q8BZN2
Predicted Effect probably damaging
Transcript: ENSMUST00000022967
AA Change: K455R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: K455R

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,044,445 (GRCm39) D148E probably benign Het
Abca13 A G 11: 9,531,665 (GRCm39) I4631V probably damaging Het
Adamts16 A T 13: 70,886,617 (GRCm39) W1058R probably damaging Het
Adgrf5 A G 17: 43,741,586 (GRCm39) I163V probably null Het
Ano1 T A 7: 144,201,774 (GRCm39) Y338F probably damaging Het
Atp4a A G 7: 30,418,521 (GRCm39) D603G probably damaging Het
Bmp2k GGCCCGC GGC 5: 97,235,050 (GRCm39) probably null Het
Brinp2 T C 1: 158,074,156 (GRCm39) D655G probably benign Het
C3ar1 A G 6: 122,827,321 (GRCm39) S299P probably benign Het
Calhm1 T A 19: 47,132,058 (GRCm39) probably null Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Cd27 A G 6: 125,213,561 (GRCm39) F48S probably damaging Het
Cfap52 A G 11: 67,844,947 (GRCm39) Y41H possibly damaging Het
Cntn5 A G 9: 9,748,394 (GRCm39) S701P possibly damaging Het
Ctbp2 G T 7: 132,597,088 (GRCm39) A665D probably damaging Het
Ctsd C A 7: 141,937,266 (GRCm39) G81C probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dpysl4 C T 7: 138,671,853 (GRCm39) A67V probably benign Het
Dst C T 1: 34,218,438 (GRCm39) T1626I probably damaging Het
Etfdh A C 3: 79,523,261 (GRCm39) D217E probably null Het
Far1 T A 7: 113,167,396 (GRCm39) Y494N probably damaging Het
Fndc1 G A 17: 7,990,366 (GRCm39) T1110M unknown Het
Frmd4a G T 2: 4,488,876 (GRCm39) D78Y probably damaging Het
Fsip2 G A 2: 82,808,260 (GRCm39) M1526I probably benign Het
Ggn C T 7: 28,871,777 (GRCm39) P399S probably damaging Het
H2ac6 C T 13: 23,867,888 (GRCm39) G5S probably damaging Het
Hap1 A G 11: 100,246,600 (GRCm39) W102R probably damaging Het
Herc2 T A 7: 55,846,938 (GRCm39) S3629R possibly damaging Het
Hyal4 A C 6: 24,765,861 (GRCm39) Y405S possibly damaging Het
Ifi204 G A 1: 173,580,325 (GRCm39) T395I probably damaging Het
Igsf9 A G 1: 172,326,005 (GRCm39) E1147G probably damaging Het
Inpp5a T A 7: 139,118,097 (GRCm39) I225N possibly damaging Het
Kmt2c T C 5: 25,515,455 (GRCm39) D2796G probably benign Het
Ngp A T 9: 110,251,401 (GRCm39) D143V probably benign Het
Nlrp5 T C 7: 23,118,264 (GRCm39) C663R possibly damaging Het
Nup205 G T 6: 35,204,615 (GRCm39) R1469L probably damaging Het
Nup205 T A 6: 35,207,483 (GRCm39) F1512I probably damaging Het
Nwd1 T C 8: 73,397,542 (GRCm39) S594P probably damaging Het
Nxpe2 A C 9: 48,230,875 (GRCm39) V498G probably benign Het
P3h4 G A 11: 100,302,677 (GRCm39) R320C probably damaging Het
Plec A G 15: 76,063,455 (GRCm39) L2273P probably damaging Het
Ppp1r14b C T 19: 6,953,951 (GRCm39) L100F probably damaging Het
Prlhr C T 19: 60,455,506 (GRCm39) W353* probably null Het
Ralgps2 C T 1: 156,660,234 (GRCm39) probably null Het
Rrp12 C T 19: 41,868,591 (GRCm39) G584D possibly damaging Het
Scamp3 T C 3: 89,088,504 (GRCm39) F237L probably damaging Het
Scn10a A G 9: 119,464,507 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shroom1 A T 11: 53,354,818 (GRCm39) D246V probably benign Het
Snapc4 T A 2: 26,268,618 (GRCm39) E14D probably damaging Het
Spag5 A T 11: 78,194,972 (GRCm39) Q93L probably benign Het
Tcstv5 T A 13: 120,411,501 (GRCm39) Q35L probably benign Het
Tle1 C T 4: 72,038,372 (GRCm39) probably null Het
Ttll10 G A 4: 156,119,438 (GRCm39) P683S possibly damaging Het
Unc13c A C 9: 73,719,649 (GRCm39) D1006E probably benign Het
Unc80 A T 1: 66,732,955 (GRCm39) K3101N possibly damaging Het
Vdac1 A G 11: 52,278,280 (GRCm39) Y247C possibly damaging Het
Vmn2r1 G A 3: 63,997,474 (GRCm39) V377I probably benign Het
Vmn2r23 A G 6: 123,710,352 (GRCm39) T552A probably damaging Het
Xrcc3 C T 12: 111,771,044 (GRCm39) R295Q probably damaging Het
Zfp780b T C 7: 27,664,243 (GRCm39) N104S probably benign Het
Zkscan17 A G 11: 59,378,397 (GRCm39) V262A possibly 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
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
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'- GCAGCAAGGCTTCATCAATC -3'
(R):5'- CATGACTACAGTAGGATATGGGGAC -3'

Sequencing Primer
(F):5'- GGCTTCATCAATCCAGCTAAATATAC -3'
(R):5'- TGGGGACATTAGACCAGACACC -3'
Posted On 2016-11-21