Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Kcnv1'

285613

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnv1

Ensembl Gene

ENSMUSG00000022342

Gene Name

potassium channel, subfamily V, member 1

Synonyms

2700023A03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

44969680-44978316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44977670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 123 (G123C)

Ref Sequence

ENSEMBL: ENSMUSP00000022967 (fasta)

Gene Model

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

AlphaFold

Q8BZN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022967
AA Change: G123C

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

SMART Domains

Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: G123C

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	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
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
R4934:Kcnv1	UTSW	15	44,972,644 (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

Posted On

2015-04-16