Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Kcnv1'

405377

Institutional Source

Beutler Lab

Gene Symbol

Kcnv1

Ensembl Gene

ENSMUSG00000022342

Gene Name

potassium channel, subfamily V, member 1

Synonyms

2700023A03Rik

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45106284-45114920 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45114591 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 17 (D17G)

Ref Sequence

ENSEMBL: ENSMUSP00000022967 (fasta)

Gene Model

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

AlphaFold

Q8BZN2

Predicted Effect

unknown
Transcript: ENSMUST00000022967
AA Change: D17G

SMART Domains

Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: D17G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,305,038	E1095K	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Cbln3	T	C	14: 55,883,463		probably null	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,900,952	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,283,874	I148F	probably damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Ighv1-77	T	A	12: 115,861,908	S104C	probably damaging	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lrrc7	T	A	3: 158,170,739	K571N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Ly6f	A	G	15: 75,271,639	Q65R	probably benign	Het
Perm1	T	C	4: 156,217,518	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359	I195V	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf213	A	T	11: 119,440,816	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,774,029	D90N	probably damaging	Het
Tdh	T	C	14: 63,496,109	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,816,257		probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zbtb2	T	C	10: 4,368,508	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,347	L800P	probably damaging	Het
Znhit6	A	G	3: 145,600,493	D251G	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
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
R5980:Kcnv1	UTSW	15	45109414	missense	probably damaging	0.99
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'- TTCGCATCATCGCAAAGCTC -3'
(R):5'- GCCATCAAGCTGGTGGAAAG -3'

Sequencing Primer
(F):5'- ATCATCGCAAAGCTCCAGGGG -3'
(R):5'- GCAAGTGGGAGGCTTCTC -3'

Posted On

2016-07-22