Mutagenetix > Incidental Mutation

Incidental Mutation 'R4342:Kcnv1'

324199

Institutional Source

Beutler Lab

Gene Symbol

Kcnv1

Ensembl Gene

ENSMUSG00000022342

Gene Name

potassium channel, subfamily V, member 1

Synonyms

2700023A03Rik

MMRRC Submission

041100-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45106284-45114920 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45114444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 66 (T66M)

Ref Sequence

ENSEMBL: ENSMUSP00000022967 (fasta)

Gene Model

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

AlphaFold

Q8BZN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022967
AA Change: T66M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: T66M

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

0.9059

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (68/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,516,495	C488R	probably benign	Het
Adamts19	A	T	18: 58,942,500	H489L	probably damaging	Het
Ahnak	T	C	19: 9,012,083	V3577A	possibly damaging	Het
Arhgap44	G	A	11: 65,012,061	R401*	probably null	Het
Cbx3-ps2	T	C	13: 65,559,688		noncoding transcript	Het
Ccdc174	T	A	6: 91,885,356	L86*	probably null	Het
Cd38	A	C	5: 43,869,089	I72L	probably benign	Het
Cers4	T	C	8: 4,521,223	L264P	probably damaging	Het
Cldn23	A	G	8: 35,825,498	S279P	probably benign	Het
Cth	T	A	3: 157,924,976	T19S	probably damaging	Het
Dnajc22	T	A	15: 99,104,464	L330*	probably null	Het
Epas1	G	A	17: 86,823,800	C336Y	probably damaging	Het
Evi5l	A	C	8: 4,183,492		probably benign	Het
Fam71b	A	G	11: 46,407,216	D449G	possibly damaging	Het
Fbxl2	A	T	9: 113,985,306	H272Q	probably benign	Het
Fgd3	C	T	13: 49,273,709		probably null	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Fscn1	T	C	5: 142,972,021	Y308H	probably damaging	Het
Gm5878	G	A	6: 85,125,651	R31*	probably null	Het
Gm996	A	G	2: 25,579,108	Y264H	possibly damaging	Het
Gpatch2l	T	C	12: 86,260,679	V277A	probably benign	Het
Greb1l	T	A	18: 10,544,561	M1385K	probably benign	Het
Grin2a	A	G	16: 9,653,589	I605T	possibly damaging	Het
Hoxc11	C	T	15: 102,954,671	S49F	probably damaging	Het
Igf2r	C	T	17: 12,709,511	E982K	possibly damaging	Het
Ighv10-3	A	T	12: 114,523,504	M99K	possibly damaging	Het
Itgb4	A	T	11: 115,988,729	T614S	probably benign	Het
Mast4	A	G	13: 102,774,248	V461A	probably damaging	Het
Mcts2	G	A	2: 152,687,664	V132M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Nbeal2	A	G	9: 110,631,793		probably benign	Het
Nek4	T	C	14: 30,953,906	V66A	probably damaging	Het
Nfasc	A	G	1: 132,631,705	F229S	probably damaging	Het
Nhsl1	T	C	10: 18,526,689	F1221S	probably damaging	Het
Nr1d1	T	G	11: 98,771,814	K118Q	probably damaging	Het
Ntm	T	C	9: 29,109,431	E164G	probably damaging	Het
Olfr576	A	G	7: 102,966,024	N308S	probably benign	Het
Parp1	G	T	1: 180,587,329	A411S	probably benign	Het
Pds5b	A	G	5: 150,800,854	T1301A	probably benign	Het
Pkhd1	A	G	1: 20,058,617	V3954A	probably benign	Het
Pkp4	A	T	2: 59,350,608	K739I	probably damaging	Het
Pla2g4e	T	C	2: 120,186,446		probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Ralgds	T	C	2: 28,552,095	L96P	probably damaging	Het
Rbm6	A	T	9: 107,847,247		probably benign	Het
Scp2d1	T	C	2: 144,824,167	L142P	probably damaging	Het
Setd5	AT	ATT	6: 113,111,320		probably benign	Het
Sgf29	G	A	7: 126,671,777	C143Y	probably damaging	Het
Slc22a12	A	G	19: 6,541,099	I156T	probably benign	Het
Stambpl1	A	G	19: 34,234,046	Q169R	probably benign	Het
Tex2	T	C	11: 106,567,006		probably benign	Het
Trip11	A	T	12: 101,884,316	I878N	probably damaging	Het
Ttf1	C	T	2: 29,065,476	S284L	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ugt2b5	A	T	5: 87,139,723	V195E	probably damaging	Het
Vmn1r14	T	A	6: 57,233,823	Y85N	probably benign	Het
Wdyhv1	T	C	15: 58,152,714	S120P	probably benign	Het
Zfp131	C	T	13: 119,776,018	R268H	probably damaging	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
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'- CAGTGCGATAGTAGTGCAGGAC -3'
(R):5'- AACTTCCCAGTGCCTTCAGG -3'

Sequencing Primer
(F):5'- TGCGATAGTAGTGCAGGACATAAC -3'
(R):5'- TCAGGATGGATCTGTCACCC -3'

Posted On

2015-06-24