Incidental Mutation 'R4935:Kcnv2'
ID 380334
Institutional Source Beutler Lab
Gene Symbol Kcnv2
Ensembl Gene ENSMUSG00000047298
Gene Name potassium channel, subfamily V, member 2
Synonyms KV11.1
MMRRC Submission 042535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4935 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 27299988-27314579 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27300332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 61 (Y61C)
Ref Sequence ENSEMBL: ENSMUSP00000055091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056708]
AlphaFold Q8CFS6
Predicted Effect probably damaging
Transcript: ENSMUST00000056708
AA Change: Y61C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055091
Gene: ENSMUSG00000047298
AA Change: Y61C

DomainStartEndE-ValueType
low complexity region 64 79 N/A INTRINSIC
Pfam:BTB_2 107 206 3.1e-22 PFAM
low complexity region 225 240 N/A INTRINSIC
Pfam:Ion_trans 269 521 2.2e-39 PFAM
Pfam:PKD_channel 305 516 2.5e-7 PFAM
Pfam:Ion_trans_2 430 515 2.2e-15 PFAM
Meta Mutation Damage Score 0.3204 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
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 member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable, fertile, and phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Abcb1a T A 5: 8,787,773 (GRCm39) probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adcyap1 A T 17: 93,511,541 (GRCm39) I172L probably benign Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Frmd5 A G 2: 121,393,405 (GRCm39) V141A possibly damaging Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
H2aj T A 6: 136,785,681 (GRCm39) V115E possibly damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnc2 A G 10: 112,108,133 (GRCm39) T175A probably benign Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Mrps30 A T 13: 118,523,431 (GRCm39) F114I possibly damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plaur A T 7: 24,166,141 (GRCm39) S71C possibly damaging Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Spmap2l T C 5: 77,185,200 (GRCm39) probably null Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S probably damaging Het
Other mutations in Kcnv2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03157:Kcnv2 APN 19 27,301,366 (GRCm39) missense probably damaging 1.00
R0104:Kcnv2 UTSW 19 27,300,619 (GRCm39) missense probably damaging 0.98
R0319:Kcnv2 UTSW 19 27,301,424 (GRCm39) missense probably benign 0.25
R2852:Kcnv2 UTSW 19 27,300,496 (GRCm39) missense probably benign 0.13
R4578:Kcnv2 UTSW 19 27,300,994 (GRCm39) missense probably benign 0.01
R4702:Kcnv2 UTSW 19 27,300,967 (GRCm39) missense probably damaging 1.00
R4842:Kcnv2 UTSW 19 27,301,190 (GRCm39) missense probably damaging 1.00
R6305:Kcnv2 UTSW 19 27,301,237 (GRCm39) missense probably benign 0.01
R6577:Kcnv2 UTSW 19 27,301,420 (GRCm39) missense possibly damaging 0.46
R6974:Kcnv2 UTSW 19 27,311,282 (GRCm39) missense probably benign
R7113:Kcnv2 UTSW 19 27,301,448 (GRCm39) missense probably damaging 1.00
R7289:Kcnv2 UTSW 19 27,311,084 (GRCm39) missense probably damaging 1.00
R7838:Kcnv2 UTSW 19 27,300,332 (GRCm39) missense probably damaging 1.00
R7936:Kcnv2 UTSW 19 27,300,167 (GRCm39) missense probably benign 0.04
R8528:Kcnv2 UTSW 19 27,300,387 (GRCm39) missense probably benign 0.00
R8854:Kcnv2 UTSW 19 27,311,258 (GRCm39) missense probably benign 0.01
R9584:Kcnv2 UTSW 19 27,300,265 (GRCm39) missense probably damaging 1.00
Z1176:Kcnv2 UTSW 19 27,300,838 (GRCm39) missense probably benign 0.11
Z1177:Kcnv2 UTSW 19 27,300,641 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTCTAAAACAGTGCAGGGCAG -3'
(R):5'- ACAGCATTCCAGCAGATAGC -3'

Sequencing Primer
(F):5'- TACTCTCCAGGGGCCATAGACAG -3'
(R):5'- AGATAGCTGTGGCCGCCTAC -3'
Posted On 2016-04-15