Mutagenetix > Incidental Mutation

Incidental Mutation 'R4934:Kcnv1'

380856

Institutional Source

Beutler Lab

Gene Symbol

Kcnv1

Ensembl Gene

ENSMUSG00000022342

Gene Name

potassium channel, subfamily V, member 1

Synonyms

2700023A03Rik

MMRRC Submission

042534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4934 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44969680-44978316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44972644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 413 (F413S)

Ref Sequence

ENSEMBL: ENSMUSP00000022967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022967]

AlphaFold

Q8BZN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022967
AA Change: F413S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: F413S

Domain	Start	End	E-Value	Type
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

0.1483

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

99% (134/135)

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: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	A	T	1: 31,261,580 (GRCm39)		probably benign	Het
Acy1	T	A	9: 106,312,321 (GRCm39)	I14F	probably null	Het
Ago1	T	C	4: 126,342,652 (GRCm39)	D193G	possibly damaging	Het
Arhgap45	A	T	10: 79,856,791 (GRCm39)	H201L	probably damaging	Het
Armc9	G	A	1: 86,140,801 (GRCm39)	D63N	probably damaging	Het
Asb17	A	T	3: 153,556,336 (GRCm39)	I148F	possibly damaging	Het
Atf7ip2	A	G	16: 10,059,447 (GRCm39)	E329G	possibly damaging	Het
Atp2a1	T	A	7: 126,052,600 (GRCm39)	D373V	probably benign	Het
Cacna1e	G	T	1: 154,357,380 (GRCm39)	Y603*	probably null	Het
Cbln4	G	A	2: 171,880,901 (GRCm39)	T131I	probably damaging	Het
Ccdc126	A	G	6: 49,311,181 (GRCm39)	E63G	probably damaging	Het
Ccl4	T	A	11: 83,553,504 (GRCm39)	S6T	unknown	Het
Ccnb1	A	T	13: 100,918,209 (GRCm39)	I146K	possibly damaging	Het
Ccr8	T	A	9: 119,923,815 (GRCm39)	M310K	probably benign	Het
Cd180	A	T	13: 102,875,672 (GRCm39)		probably null	Het
Cd46	G	C	1: 194,765,107 (GRCm39)		probably benign	Het
Cebpb	A	G	2: 167,531,005 (GRCm39)	M22V	probably benign	Het
Cep152	A	G	2: 125,453,016 (GRCm39)	I352T	possibly damaging	Het
Cep295	T	G	9: 15,244,456 (GRCm39)	E1333D	probably damaging	Het
Ces4a	A	G	8: 105,864,613 (GRCm39)	H30R	probably benign	Het
Chrm3	A	G	13: 9,927,450 (GRCm39)	Y529H	probably damaging	Het
Chrnb4	T	C	9: 54,942,101 (GRCm39)	Y391C	probably benign	Het
Clca3a2	A	G	3: 144,523,692 (GRCm39)	Y98H	probably damaging	Het
Clvs1	C	T	4: 9,424,216 (GRCm39)	H221Y	possibly damaging	Het
Col3a1	G	A	1: 45,379,112 (GRCm39)		probably benign	Het
Cpn2	T	G	16: 30,079,344 (GRCm39)	N119T	probably damaging	Het
Cspg4b	C	A	13: 113,504,882 (GRCm39)	Q2004K	probably damaging	Het
Cubn	T	A	2: 13,494,721 (GRCm39)	Q109H	probably benign	Het
Cyp26b1	A	G	6: 84,553,954 (GRCm39)	V221A	possibly damaging	Het
Cyp2e1	T	G	7: 140,350,030 (GRCm39)	N238K	probably damaging	Het
Dst	C	T	1: 34,247,669 (GRCm39)	A1693V	probably damaging	Het
Dync2li1	A	G	17: 84,956,683 (GRCm39)	Q281R	probably benign	Het
Enpp2	C	T	15: 54,745,543 (GRCm39)	G318S	probably damaging	Het
Entrep1	T	C	19: 23,950,789 (GRCm39)	*597W	probably null	Het
F13a1	G	T	13: 37,061,736 (GRCm39)	P676T	probably benign	Het
Fam227a	T	C	15: 79,521,262 (GRCm39)	H267R	possibly damaging	Het
Fam78a	G	A	2: 31,959,427 (GRCm39)	R228C	probably damaging	Het
Fbxw25	T	C	9: 109,480,705 (GRCm39)	N325S	possibly damaging	Het
Foxred1	T	C	9: 35,121,210 (GRCm39)		probably benign	Het
Fstl5	T	A	3: 76,496,272 (GRCm39)	V345E	probably damaging	Het
Fzd8	GAAAAACTCA	GA	18: 9,214,492 (GRCm39)		probably null	Het
Hand1	T	C	11: 57,722,078 (GRCm39)	R179G	possibly damaging	Het
Hk1	G	T	10: 62,194,165 (GRCm39)		probably benign	Het
Hmcn1	A	C	1: 150,598,286 (GRCm39)	L1672R	probably damaging	Het
Hps5	G	A	7: 46,418,775 (GRCm39)	Q297*	probably null	Het
Iars1	T	A	13: 49,871,460 (GRCm39)	F699I	probably benign	Het
Ift140	G	A	17: 25,267,462 (GRCm39)	G620E	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Inpp4a	T	G	1: 37,426,922 (GRCm39)	Y628D	possibly damaging	Het
Itk	C	T	11: 46,280,152 (GRCm39)	R29H	probably damaging	Het
Klhl3	A	T	13: 58,250,231 (GRCm39)	Y4*	probably null	Het
Lonrf1	C	A	8: 36,701,103 (GRCm39)	C369F	probably damaging	Het
Magohb	A	T	6: 131,261,558 (GRCm39)		probably benign	Het
Map3k4	G	A	17: 12,490,787 (GRCm39)	R215C	probably damaging	Het
Map3k8	A	T	18: 4,339,548 (GRCm39)	S274R	possibly damaging	Het
Masp1	T	G	16: 23,283,826 (GRCm39)	M470L	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Muc4	A	T	16: 32,576,472 (GRCm39)		probably benign	Het
Myo1c	T	A	11: 75,562,676 (GRCm39)	V981E	probably damaging	Het
Nedd9	A	T	13: 41,492,411 (GRCm39)	I27K	probably damaging	Het
Nkd2	C	A	13: 73,970,841 (GRCm39)	G247V	probably damaging	Het
Nucb2	A	C	7: 116,139,199 (GRCm39)	Q398P	possibly damaging	Het
Numa1	T	A	7: 101,660,064 (GRCm39)	D376E	probably benign	Het
Or2w1	G	A	13: 21,317,241 (GRCm39)	V99I	probably benign	Het
Or4c101	C	T	2: 88,389,930 (GRCm39)	T39I	probably benign	Het
Or4n5	T	C	14: 50,133,206 (GRCm39)	T18A	probably benign	Het
Or4p23	A	T	2: 88,576,398 (GRCm39)	L278*	probably null	Het
Or4q3	C	T	14: 50,583,345 (GRCm39)	V185M	probably damaging	Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or6c76b	A	T	10: 129,692,896 (GRCm39)	N170Y	possibly damaging	Het
Or8d23	A	T	9: 38,842,129 (GRCm39)	I221F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pamr1	C	T	2: 102,472,549 (GRCm39)	T616I	probably benign	Het
Pcnx1	G	A	12: 82,038,599 (GRCm39)	V1955I	possibly damaging	Het
Pira13	A	G	7: 3,825,676 (GRCm39)	Y398H	probably damaging	Het
Plekha3	T	A	2: 76,510,571 (GRCm39)	D35E	possibly damaging	Het
Pnpla2	T	G	7: 141,038,085 (GRCm39)	N184K	probably damaging	Het
Polr3a	C	T	14: 24,502,692 (GRCm39)	E1216K	probably benign	Het
Ppp1r21	A	T	17: 88,852,803 (GRCm39)	S61C	probably damaging	Het
Ppp1r21	G	C	17: 88,852,804 (GRCm39)	S61T	probably damaging	Het
Prdm13	G	T	4: 21,678,223 (GRCm39)		probably benign	Het
Prss53	T	C	7: 127,487,879 (GRCm39)	N201S	probably benign	Het
Rab11fip2	A	G	19: 59,924,290 (GRCm39)	L338S	probably damaging	Het
Rad50	T	C	11: 53,575,102 (GRCm39)	N546S	probably benign	Het
Ralgapa1	T	C	12: 55,809,359 (GRCm39)	D472G	possibly damaging	Het
Rexo4	A	G	2: 26,850,346 (GRCm39)	I277T	probably damaging	Het
Rimbp2	C	T	5: 128,865,579 (GRCm39)	V590I	probably benign	Het
Ripor3	A	G	2: 167,824,736 (GRCm39)	V864A	probably benign	Het
Rnpc3	G	A	3: 113,418,628 (GRCm39)	H107Y	possibly damaging	Het
Ryr1	A	T	7: 28,767,520 (GRCm39)	D2927E	probably damaging	Het
Samd9l	G	A	6: 3,375,621 (GRCm39)	Q547*	probably null	Het
Scaper	T	C	9: 55,716,459 (GRCm39)	E724G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,409 (GRCm39)	V1016I	probably damaging	Het
Selenoo	T	A	15: 88,982,970 (GRCm39)	M499K	probably damaging	Het
Sema4a	T	A	3: 88,345,568 (GRCm39)	D505V	probably damaging	Het
Sema5a	T	C	15: 32,679,310 (GRCm39)	M863T	probably damaging	Het
Slc24a5	T	C	2: 124,929,940 (GRCm39)	C414R	probably damaging	Het
Slc34a2	A	G	5: 53,224,942 (GRCm39)	D361G	probably damaging	Het
Slc5a1	T	C	5: 33,261,858 (GRCm39)	Y20H	probably benign	Het
Slx4ip	A	T	2: 136,910,267 (GRCm39)		probably benign	Het
Snx14	T	A	9: 88,280,341 (GRCm39)	E538V	probably damaging	Het
Sspo	C	A	6: 48,442,486 (GRCm39)	L1994I	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stap2	A	G	17: 56,304,901 (GRCm39)	S294P	possibly damaging	Het
Stat1	C	A	1: 52,193,082 (GRCm39)	Y651*	probably null	Het
Syne2	A	G	12: 75,946,046 (GRCm39)	T373A	probably benign	Het
Tacc2	A	G	7: 130,330,318 (GRCm39)	S201G	probably damaging	Het
Tdpoz3	G	A	3: 93,734,287 (GRCm39)	E321K	probably benign	Het
Thumpd1	T	C	7: 119,316,002 (GRCm39)	T316A	probably benign	Het
Tlr3	A	T	8: 45,850,072 (GRCm39)	C866S	probably benign	Het
Tmprss11g	T	A	5: 86,644,401 (GRCm39)	I148F	probably benign	Het
Topbp1	T	A	9: 103,205,568 (GRCm39)		probably benign	Het
Tpm1	T	C	9: 66,935,331 (GRCm39)		probably null	Het
Traf3ip2	T	A	10: 39,502,096 (GRCm39)	S81R	probably damaging	Het
Trim29	T	A	9: 43,222,265 (GRCm39)	N31K	probably benign	Het
Ubn2	C	T	6: 38,467,433 (GRCm39)	P563S	probably benign	Het
Usp24	T	C	4: 106,283,743 (GRCm39)	Y2418H	probably benign	Het
Vmn2r6	T	A	3: 64,463,766 (GRCm39)	D267V	probably damaging	Het
Wapl	T	A	14: 34,414,052 (GRCm39)	C305S	probably benign	Het
Yme1l1	C	A	2: 23,058,333 (GRCm39)	S155*	probably null	Het
Ythdf3	T	A	3: 16,258,220 (GRCm39)	H126Q	probably damaging	Het
Zbtb32	A	T	7: 30,290,678 (GRCm39)	C206S	possibly damaging	Het
Zbtb47	T	C	9: 121,593,045 (GRCm39)	V455A	probably damaging	Het
Zfp518a	A	T	19: 40,902,707 (GRCm39)	I879F	probably benign	Het
Zfp938	A	T	10: 82,062,012 (GRCm39)	Y203N	possibly damaging	Het

Other mutations in Kcnv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGGCATAGACATCCCTCAAG -3'
(R):5'- TCAGTGCTATGAAGAAGTTGGCC -3'

Sequencing Primer
(F):5'- GGGCATAGACATCCCTCAAGTTAAC -3'
(R):5'- AAGAAGTTGGCCTACTGCTC -3'

Posted On

2016-04-15