Mutagenetix > Incidental Mutation

Incidental Mutation 'R2942:Kcnv1'

255201

Institutional Source

Beutler Lab

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 #

R2942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44969680-44978316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44972581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 434 (F434S)

Ref Sequence

ENSEMBL: ENSMUSP00000022967 (fasta)

Gene Model

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

AlphaFold

Q8BZN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022967
AA Change: F434S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: F434S

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	T	1: 58,376,540 (GRCm39)	R907L	probably benign	Het
Fat4	A	G	3: 39,036,485 (GRCm39)	N3379S	probably damaging	Het
Parg	A	G	14: 31,931,294 (GRCm39)	K305E	probably damaging	Het
Phlpp1	G	A	1: 106,100,502 (GRCm39)	V257I	probably benign	Het
Pth2r	G	A	1: 65,427,635 (GRCm39)	R436K	probably benign	Het
Srsf9	T	C	5: 115,470,752 (GRCm39)	Y215H	probably damaging	Het
Tjp1	A	G	7: 64,967,754 (GRCm39)	V798A	probably damaging	Het
Trmt13	A	T	3: 116,379,421 (GRCm39)	I242N	probably damaging	Het
Vmn1r31	G	A	6: 58,449,583 (GRCm39)	T94I	possibly damaging	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
IGL02227:Kcnv1	APN	15	44,977,670 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGGCTTCATCAATCCAGC -3'
(R):5'- TTGCAGAGCAAAGCATTCCTG -3'

Sequencing Primer
(F):5'- GAAATCATCTCCACCACTGCTTCTAG -3'
(R):5'- TGATACAACCTTCACAAGTGTTCC -3'

Posted On

2014-12-29