Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Kcnv1'

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

Chromosomal Location

45106284-45114920 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45109414 bp (GRCm38)

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

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

0.1614

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,567,055	N508D	possibly damaging	Het
Ago1	C	T	4: 126,460,569		probably benign	Het
Apol6	A	T	15: 77,051,019	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,356,269	T33A	probably benign	Het
Atg7	C	A	6: 114,680,236	F132L	possibly damaging	Het
Cep104	C	A	4: 153,988,473	A396E	probably benign	Het
Cers4	T	A	8: 4,518,269	C107*	probably null	Het
Cntn6	T	C	6: 104,848,132	S878P	probably damaging	Het
Dnah6	T	C	6: 73,181,722	K633E	probably benign	Het
Dst	T	A	1: 34,182,891	I2592K	probably benign	Het
Ep400	G	A	5: 110,733,729		probably benign	Het
Fbn1	A	G	2: 125,315,404	C2320R	probably damaging	Het
Gm17677	A	C	9: 35,741,615	D51A	probably damaging	Het
Gpi1	A	G	7: 34,228,926		probably null	Het
Gse1	T	G	8: 120,229,637		probably benign	Het
Hid1	G	A	11: 115,350,948	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,265,295	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,680,589	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,519,025	V5A	probably benign	Het
Irgq	G	A	7: 24,533,345	G204S	probably damaging	Het
Kansl1	T	C	11: 104,343,637	K681R	possibly damaging	Het
Lrp2	A	T	2: 69,535,005	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,137,908	D155V	probably damaging	Het
Magel2	A	T	7: 62,380,596	I1083F	unknown	Het
Mta3	T	A	17: 83,708,405	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,604,151	I423T	probably damaging	Het
Mup11	A	G	4: 60,660,888	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,911,096	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509	Q72P	possibly damaging	Het
Nol4	T	A	18: 22,952,201	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,571,633	V808A	probably damaging	Het
Olfr1058	A	T	2: 86,385,797	L207*	probably null	Het
Olfr9	A	G	10: 128,990,440	H176R	probably damaging	Het
Olfr993	A	T	2: 85,414,165	F238Y	probably damaging	Het
Pik3c2b	C	A	1: 133,088,308	D869E	probably benign	Het
Pom121l2	T	C	13: 21,983,376	S606P	probably damaging	Het
Prdm15	G	A	16: 97,812,570	R517*	probably null	Het
Ralgapa1	T	A	12: 55,770,616		probably null	Het
Saraf	T	A	8: 34,165,387	F207I	probably benign	Het
Sema6d	A	G	2: 124,664,708	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,201,972	L14M	unknown	Het
Sidt1	A	T	16: 44,263,312	C485*	probably null	Het
Sptbn4	A	G	7: 27,372,171	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,980,408	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Ticrr	G	A	7: 79,660,955	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,784,598	I820F	probably benign	Het
Trafd1	A	G	5: 121,373,457	Y433H	probably damaging	Het
Trim68	A	G	7: 102,678,831	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,865,056	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,478,792	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,441,362	I457V	probably benign	Het

Other mutations in Kcnv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Kcnv1	APN	15	45113228	missense	probably benign	0.00
IGL02227:Kcnv1	APN	15	45114274	missense	probably damaging	1.00
IGL02472:Kcnv1	APN	15	45109123	nonsense	probably null
IGL03239:Kcnv1	APN	15	45109490	splice site	probably benign
R0079:Kcnv1	UTSW	15	45113333	missense	probably damaging	1.00
R0534:Kcnv1	UTSW	15	45109249	missense	probably damaging	0.98
R0627:Kcnv1	UTSW	15	45112881	splice site	probably benign
R1614:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R1615:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R2942:Kcnv1	UTSW	15	45109185	missense	probably damaging	1.00
R4244:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4290:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4291:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4293:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4294:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4295:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4335:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4342:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4345:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4354:Kcnv1	UTSW	15	45114444	missense	probably damaging	1.00
R4934:Kcnv1	UTSW	15	45109248	missense	probably damaging	1.00
R5240:Kcnv1	UTSW	15	45113244	missense	probably damaging	1.00
R5295:Kcnv1	UTSW	15	45114591	missense	unknown
R5631:Kcnv1	UTSW	15	45109357	missense	probably damaging	1.00
R5669:Kcnv1	UTSW	15	45114252	missense	possibly damaging	0.71
R5762:Kcnv1	UTSW	15	45109122	missense	probably damaging	0.99
R5776:Kcnv1	UTSW	15	45114567	missense	unknown
R5787:Kcnv1	UTSW	15	45114330	missense	probably damaging	1.00
R6819:Kcnv1	UTSW	15	45109117	missense	probably damaging	0.99
R6851:Kcnv1	UTSW	15	45109198	missense	probably damaging	1.00
R6997:Kcnv1	UTSW	15	45114601	missense	unknown
R7254:Kcnv1	UTSW	15	45113208	missense	probably benign	0.00
R7258:Kcnv1	UTSW	15	45109315	missense	probably damaging	0.99
R7272:Kcnv1	UTSW	15	45113180	missense	probably benign	0.00
R7367:Kcnv1	UTSW	15	45109242	missense	probably damaging	1.00
R7995:Kcnv1	UTSW	15	45109347	missense	probably damaging	1.00
R8271:Kcnv1	UTSW	15	45109358	missense	probably benign	0.00
R8725:Kcnv1	UTSW	15	45114603	missense	unknown
R8727:Kcnv1	UTSW	15	45114603	missense	unknown
R8730:Kcnv1	UTSW	15	45109401	missense	probably damaging	0.99
R8754:Kcnv1	UTSW	15	45114469	nonsense	probably null
R9162:Kcnv1	UTSW	15	45109054	missense	possibly damaging	0.91
R9686:Kcnv1	UTSW	15	45109104	missense	probably benign	0.00
R9796:Kcnv1	UTSW	15	45114591	missense	unknown
X0026:Kcnv1	UTSW	15	45109467	missense	possibly damaging	0.69
Z1177:Kcnv1	UTSW	15	45114435	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