Mutagenetix > Incidental Mutation

Incidental Mutation 'R0319:Kcnv2'

25591

Institutional Source

Beutler Lab

Gene Symbol

Kcnv2

Ensembl Gene

ENSMUSG00000047298

Gene Name

potassium channel, subfamily V, member 2

Synonyms

KV11.1

MMRRC Submission

038529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0319 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

27299988-27314579 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27301424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 425 (Y425F)

Ref Sequence

ENSEMBL: ENSMUSP00000055091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056708]

AlphaFold

Q8CFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000056708
AA Change: Y425F

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055091
Gene: ENSMUSG00000047298
AA Change: Y425F

Domain	Start	End	E-Value	Type
low complexity region	64	79	N/A	INTRINSIC
Pfam:BTB_2	107	206	3.1e-22	PFAM
low complexity region	225	240	N/A	INTRINSIC
Pfam:Ion_trans	269	521	2.2e-39	PFAM
Pfam:PKD_channel	305	516	2.5e-7	PFAM
Pfam:Ion_trans_2	430	515	2.2e-15	PFAM

Meta Mutation Damage Score

0.1735

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (58/58)

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 member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable, fertile, and phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	C	7: 127,836,362 (GRCm39)	V77G	probably benign	Het
Abcb1b	A	G	5: 8,877,428 (GRCm39)	R663G	probably benign	Het
Acly	A	G	11: 100,395,808 (GRCm39)	V404A	probably damaging	Het
Actg2	T	A	6: 83,497,725 (GRCm39)	I103F	probably damaging	Het
Anapc5	A	G	5: 122,956,919 (GRCm39)	V120A	probably damaging	Het
Ankk1	T	G	9: 49,327,371 (GRCm39)	T603P	probably damaging	Het
Ankmy2	T	C	12: 36,215,898 (GRCm39)	S33P	possibly damaging	Het
Arhgef19	A	T	4: 140,983,710 (GRCm39)	T748S	possibly damaging	Het
Atad5	T	A	11: 80,011,616 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,249,483 (GRCm39)	L105P	probably damaging	Het
Cacna1s	T	C	1: 135,998,455 (GRCm39)	V161A	probably damaging	Het
Col6a3	T	C	1: 90,735,426 (GRCm39)	E741G	possibly damaging	Het
Cpne9	G	A	6: 113,271,654 (GRCm39)	G338E	probably damaging	Het
Cyp3a13	G	A	5: 137,897,124 (GRCm39)	P397S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Draxin	A	G	4: 148,200,429 (GRCm39)	L7P	probably benign	Het
Exosc7	T	A	9: 122,960,025 (GRCm39)		probably benign	Het
Far2	A	G	6: 148,058,968 (GRCm39)	E218G	probably damaging	Het
Ggps1	A	C	13: 14,228,462 (GRCm39)	N240K	possibly damaging	Het
Kcnip1	T	C	11: 33,601,529 (GRCm39)		probably benign	Het
Kdelr2	T	A	5: 143,398,272 (GRCm39)	F40I	probably damaging	Het
Kdm1b	C	T	13: 47,207,195 (GRCm39)	P173L	probably benign	Het
Kif20b	G	A	19: 34,925,132 (GRCm39)		probably benign	Het
Klhl9	A	T	4: 88,638,691 (GRCm39)	Y517N	possibly damaging	Het
Lgals3bp	A	G	11: 118,284,347 (GRCm39)	S411P	probably damaging	Het
Lmo3	G	A	6: 138,354,309 (GRCm39)	T85M	probably damaging	Het
Lvrn	C	A	18: 46,997,820 (GRCm39)	T256N	probably damaging	Het
Malt1	T	C	18: 65,595,986 (GRCm39)		probably null	Het
Mgst1	A	G	6: 138,133,155 (GRCm39)	I157V	possibly damaging	Het
Mob3a	A	T	10: 80,525,819 (GRCm39)	V164E	possibly damaging	Het
Mprip	T	A	11: 59,587,864 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,959,712 (GRCm39)	N276S	probably benign	Het
Or5an1b	A	T	19: 12,299,680 (GRCm39)	C170*	probably null	Het
P3h2	T	A	16: 25,789,681 (GRCm39)	I529F	possibly damaging	Het
Pikfyve	T	A	1: 65,285,490 (GRCm39)	S865T	probably benign	Het
Rcbtb2	G	A	14: 73,415,909 (GRCm39)	R474Q	probably benign	Het
Rpl27	G	A	11: 101,334,321 (GRCm39)		probably benign	Het
Rtp1	G	A	16: 23,250,210 (GRCm39)	E192K	probably damaging	Het
Sgk2	T	C	2: 162,837,592 (GRCm39)		probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc49a4	T	C	16: 35,570,884 (GRCm39)	D140G	probably benign	Het
Spdl1	T	C	11: 34,714,347 (GRCm39)	N114S	possibly damaging	Het
Syne2	C	T	12: 76,110,936 (GRCm39)	R5756W	probably damaging	Het
Tor1aip1	T	C	1: 155,882,927 (GRCm39)	E307G	probably damaging	Het
Tpd52	T	C	3: 9,018,749 (GRCm39)	T44A	probably benign	Het
Trim67	A	T	8: 125,549,966 (GRCm39)	Y532F	probably damaging	Het
Ttll9	C	A	2: 152,842,018 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,680,571 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,909,709 (GRCm39)	I539M	probably benign	Het
Vmn1r19	T	A	6: 57,381,600 (GRCm39)	M51K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,941 (GRCm39)	M787K	probably damaging	Het
Xdh	T	A	17: 74,213,096 (GRCm39)		probably benign	Het
Zfp109	A	T	7: 23,933,895 (GRCm39)	V8E	probably damaging	Het
Zfp595	G	A	13: 67,464,577 (GRCm39)	A562V	possibly damaging	Het
Zfp759	A	G	13: 67,288,356 (GRCm39)	T636A	probably benign	Het

Other mutations in Kcnv2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03157:Kcnv2	APN	19	27,301,366 (GRCm39)	missense	probably damaging	1.00
R0104:Kcnv2	UTSW	19	27,300,619 (GRCm39)	missense	probably damaging	0.98
R2852:Kcnv2	UTSW	19	27,300,496 (GRCm39)	missense	probably benign	0.13
R4578:Kcnv2	UTSW	19	27,300,994 (GRCm39)	missense	probably benign	0.01
R4702:Kcnv2	UTSW	19	27,300,967 (GRCm39)	missense	probably damaging	1.00
R4842:Kcnv2	UTSW	19	27,301,190 (GRCm39)	missense	probably damaging	1.00
R4935:Kcnv2	UTSW	19	27,300,332 (GRCm39)	missense	probably damaging	1.00
R6305:Kcnv2	UTSW	19	27,301,237 (GRCm39)	missense	probably benign	0.01
R6577:Kcnv2	UTSW	19	27,301,420 (GRCm39)	missense	possibly damaging	0.46
R6974:Kcnv2	UTSW	19	27,311,282 (GRCm39)	missense	probably benign
R7113:Kcnv2	UTSW	19	27,301,448 (GRCm39)	missense	probably damaging	1.00
R7289:Kcnv2	UTSW	19	27,311,084 (GRCm39)	missense	probably damaging	1.00
R7838:Kcnv2	UTSW	19	27,300,332 (GRCm39)	missense	probably damaging	1.00
R7936:Kcnv2	UTSW	19	27,300,167 (GRCm39)	missense	probably benign	0.04
R8528:Kcnv2	UTSW	19	27,300,387 (GRCm39)	missense	probably benign	0.00
R8854:Kcnv2	UTSW	19	27,311,258 (GRCm39)	missense	probably benign	0.01
R9584:Kcnv2	UTSW	19	27,300,265 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcnv2	UTSW	19	27,300,838 (GRCm39)	missense	probably benign	0.11
Z1177:Kcnv2	UTSW	19	27,300,641 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTTCGGGACATGCGCTTCTATG -3'
(R):5'- TGCAGAAACCCAAGTGCCATGTTAC -3'

Sequencing Primer
(F):5'- TCAACCTAGTGGACCTGGTG -3'
(R):5'- AAGTGCCATGTTACTCACCG -3'

Posted On

2013-04-16