Mutagenetix > Incidental Mutation

Incidental Mutation 'R0627:Kcnv1'

57652

Institutional Source

Beutler Lab

Gene Symbol

Kcnv1

Ensembl Gene

ENSMUSG00000022342

Gene Name

potassium channel, subfamily V, member 1

Synonyms

2700023A03Rik

MMRRC Submission

038816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0627 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45106284-45114920 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 45112881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022967 (fasta)

Gene Model

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

AlphaFold

Q8BZN2

Predicted Effect

probably benign
Transcript: ENSMUST00000022967

SMART Domains

Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342

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: 98.8%
10x: 97.2%
20x: 94.2%

Validation Efficiency

99% (111/112)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	G	1: 26,685,889	M70T	probably benign	Het
Adm2	T	A	15: 89,324,305	Y149*	probably null	Het
Ahi1	G	A	10: 20,965,522	R236H	probably benign	Het
Armcx4	A	G	X: 134,695,823	N2160S	possibly damaging	Het
Asns	A	T	6: 7,675,516	D495E	probably benign	Het
Bcl9	A	G	3: 97,205,473	V1222A	probably damaging	Het
Cd46	A	T	1: 195,092,186	C14S	probably benign	Het
Cdk11b	T	A	4: 155,640,772		probably benign	Het
Cdkl3	T	C	11: 52,011,308	Y115H	probably damaging	Het
Cep41	C	A	6: 30,656,631	C274F	probably damaging	Het
Ces1a	C	A	8: 93,042,043	V108F	probably benign	Het
Clca4b	A	G	3: 144,928,259	Y132H	probably benign	Het
Col5a3	T	C	9: 20,775,485	E1323G	unknown	Het
Cttnbp2	A	G	6: 18,367,373	*1139Q	probably null	Het
Cyp2d9	T	A	15: 82,455,790	I127N	probably damaging	Het
Dennd1b	A	G	1: 139,081,219	Y220C	probably damaging	Het
Desi2	T	C	1: 178,249,352	S141P	possibly damaging	Het
Dgcr2	A	G	16: 17,844,008	S453P	probably damaging	Het
Dnah3	A	G	7: 120,020,915	L1586P	probably damaging	Het
Dpep3	T	C	8: 105,978,731	D129G	possibly damaging	Het
Eci3	C	T	13: 34,948,143	V241I	possibly damaging	Het
Ecm2	A	T	13: 49,521,083		probably benign	Het
Emilin3	A	G	2: 160,908,176	L551P	probably damaging	Het
Erap1	A	C	13: 74,675,814		probably benign	Het
Ern1	T	C	11: 106,398,693	D928G	probably benign	Het
Fam214b	G	T	4: 43,036,242	P163Q	probably damaging	Het
Fancc	C	A	13: 63,317,478	A472S	probably damaging	Het
Fkbp7	A	T	2: 76,672,844	D57E	probably damaging	Het
Gabbr2	T	A	4: 46,681,223	I703F	possibly damaging	Het
Gabrg3	A	T	7: 56,724,595	C408S	probably damaging	Het
Gm13119	C	A	4: 144,362,846	L245I	probably benign	Het
Gm13757	A	G	2: 88,446,219	S240P	probably damaging	Het
Gm8674	T	C	13: 49,899,715		noncoding transcript	Het
Gnas	G	A	2: 174,298,135		probably benign	Het
Grhl3	A	G	4: 135,552,681	V354A	probably benign	Het
Gsdme	G	T	6: 50,229,279		probably benign	Het
H2-D1	A	G	17: 35,265,922	E253G	probably damaging	Het
Habp2	A	G	19: 56,314,046	T31A	probably damaging	Het
Ifrd1	A	G	12: 40,206,987		probably null	Het
Il20	A	G	1: 130,909,739		probably benign	Het
Isx	A	T	8: 74,892,700	I160F	possibly damaging	Het
Itgb2l	T	G	16: 96,422,911		probably benign	Het
Kif17	T	C	4: 138,288,487		probably null	Het
Kirrel3	A	C	9: 35,035,174	D743A	probably damaging	Het
Lmod3	T	C	6: 97,248,071	D263G	probably damaging	Het
Manf	A	G	9: 106,889,186	L132P	probably damaging	Het
Mark2	C	T	19: 7,281,960		probably null	Het
Med10	G	A	13: 69,815,601	S107N	possibly damaging	Het
Med31	A	G	11: 72,213,775		probably null	Het
Mki67	C	A	7: 135,708,258	A155S	probably benign	Het
Mprip	T	A	11: 59,769,972	L2193Q	probably damaging	Het
Mylk	A	G	16: 35,000,429	N126S	probably damaging	Het
Myo16	A	G	8: 10,439,689	I715V	probably benign	Het
Myo18b	T	C	5: 112,798,834	T1591A	probably benign	Het
Myt1	T	A	2: 181,795,689	D64E	probably benign	Het
Ndufa10	A	T	1: 92,469,896	Y61N	probably damaging	Het
Nob1	A	G	8: 107,416,224	F275S	probably damaging	Het
Nop2	T	C	6: 125,139,704	V333A	possibly damaging	Het
Ogdh	T	A	11: 6,347,216	V545D	possibly damaging	Het
Olfr1101	T	C	2: 86,989,014	N54S	probably benign	Het
Olfr1461	A	G	19: 13,165,250	T79A	probably benign	Het
Olfr213	T	A	6: 116,540,988	N178K	possibly damaging	Het
Olfr364-ps1	T	G	2: 37,146,330	N39K	probably damaging	Het
Olfr430	G	T	1: 174,070,077	V260F	probably damaging	Het
Olfr826	A	G	10: 130,180,688	F64S	probably damaging	Het
Pcdhb1	T	C	18: 37,265,721	F242L	probably damaging	Het
Pkd2l2	A	G	18: 34,425,102	Y278C	probably damaging	Het
Plxdc1	T	A	11: 97,932,204		probably null	Het
Ppp2r5b	A	G	19: 6,232,634		probably benign	Het
Prelid2	T	A	18: 41,937,652	T39S	possibly damaging	Het
Prkd1	A	T	12: 50,490,041	F87I	probably benign	Het
Prl3d3	C	T	13: 27,156,847	T4I	probably damaging	Het
Proser3	T	A	7: 30,540,783	T299S	probably benign	Het
Ptprc	G	T	1: 138,068,320	H1095N	probably damaging	Het
Rab11fip5	G	T	6: 85,348,051	P425T	probably benign	Het
Rac2	T	C	15: 78,564,968	T115A	probably damaging	Het
Rtl9	C	A	X: 143,101,275	T561K	possibly damaging	Het
Runx2	T	C	17: 44,658,505		probably benign	Het
Rxfp1	C	T	3: 79,648,211	V613I	probably benign	Het
Scn9a	T	C	2: 66,537,377	K656R	probably benign	Het
Sec31b	A	G	19: 44,525,607	S406P	probably benign	Het
Sept5	T	C	16: 18,625,365	D44G	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc35c2	T	C	2: 165,282,136	T94A	possibly damaging	Het
Slc8a3	T	A	12: 81,314,842	D401V	probably damaging	Het
Slitrk1	A	T	14: 108,912,239	C347S	probably damaging	Het
Smg1	G	T	7: 118,167,861		probably benign	Het
Snx14	T	C	9: 88,394,430	K610E	probably benign	Het
Sppl2a	A	G	2: 126,920,417		probably benign	Het
Stk-ps2	T	A	1: 46,029,691		noncoding transcript	Het
Sult3a1	T	C	10: 33,864,014	M23T	probably benign	Het
Syt5	A	G	7: 4,545,683	L50P	possibly damaging	Het
Tacr1	A	G	6: 82,555,031	I303V	possibly damaging	Het
Trip12	C	A	1: 84,768,597	V487F	probably damaging	Het
Vcp	A	G	4: 42,983,011	S612P	possibly damaging	Het
Vmn1r47	A	G	6: 90,022,806	I307V	probably null	Het
Vmn1r83	T	G	7: 12,321,992	D46A	probably damaging	Het
Vmn2r118	G	T	17: 55,610,772	Q247K	probably benign	Het
Vmn2r94	C	T	17: 18,257,165	C328Y	probably damaging	Het
Vps13b	T	A	15: 35,371,999	Y13*	probably null	Het
Vps13d	C	T	4: 145,087,184	R3241H	probably damaging	Het
Wdr5b	A	G	16: 36,042,470	T320A	probably benign	Het
Zfhx2	A	T	14: 55,065,327	D1733E	probably benign	Het
Zfp541	A	G	7: 16,095,682		probably benign	Het
Zfp708	A	T	13: 67,070,717	Y314*	probably null	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
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
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'- CCATGACTCTTCTCTCCAGTCAAGAATG -3'
(R):5'- GTTCCAAACATCATAGACCTCCTTGCC -3'

Sequencing Primer
(F):5'- Tgagagagagagagagagagagag -3'
(R):5'- ATAGACCTCCTTGCCATCTTG -3'

Posted On

2013-07-11