Mutagenetix > Incidental Mutation

Incidental Mutation 'R8854:Kcnv2'

675209

Institutional Source

Beutler Lab

Gene Symbol

Kcnv2

Ensembl Gene

ENSMUSG00000047298

Gene Name

potassium channel, subfamily V, member 2

Synonyms

KV11.1

MMRRC Submission

068676-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27299988-27314579 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27311258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 542 (T542S)

Ref Sequence

ENSEMBL: ENSMUSP00000055091 (fasta)

Gene Model

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

AlphaFold

Q8CFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000056708
AA Change: T542S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000055091
Gene: ENSMUSG00000047298
AA Change: T542S

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	G	A	19: 20,588,297 (GRCm39)	W29*	probably null	Het
Ankib1	C	A	5: 3,777,489 (GRCm39)	W467L	probably null	Het
Arhgef10	A	G	8: 15,029,798 (GRCm39)		probably null	Het
Arpc1b	C	A	5: 145,060,405 (GRCm39)	R66S	probably benign	Het
Atoh1	A	T	6: 64,706,189 (GRCm39)		probably benign	Het
Bach2	T	A	4: 32,575,263 (GRCm39)	D619E	possibly damaging	Het
Bbs9	T	C	9: 22,490,060 (GRCm39)	I277T	probably damaging	Het
Cadps2	G	A	6: 23,385,507 (GRCm39)	P772S	probably damaging	Het
Cd1d1	T	A	3: 86,905,480 (GRCm39)	D171V	probably damaging	Het
Cfap20dc	A	T	14: 8,518,638 (GRCm38)	S273T	probably damaging	Het
Clca3a2	C	T	3: 144,783,852 (GRCm39)	A588T	possibly damaging	Het
Cps1	A	G	1: 67,200,048 (GRCm39)	K399E	probably damaging	Het
Cpt1a	T	C	19: 3,406,327 (GRCm39)	S98P	probably benign	Het
Cryzl2	A	G	1: 157,286,370 (GRCm39)	K36R	possibly damaging	Het
Cxcl13	T	C	5: 96,104,861 (GRCm39)	L11P	unknown	Het
Dbf4	T	A	5: 8,458,562 (GRCm39)	D151V	probably damaging	Het
Eogt	A	T	6: 97,108,359 (GRCm39)	C227*	probably null	Het
Fermt3	T	A	19: 6,991,310 (GRCm39)	D231V	probably damaging	Het
Il2rb	T	C	15: 78,369,953 (GRCm39)	T229A	probably benign	Het
Ildr1	T	A	16: 36,535,910 (GRCm39)	Y142N	probably damaging	Het
Kif26b	G	A	1: 178,743,948 (GRCm39)	G1348E	possibly damaging	Het
Lancl1	C	T	1: 67,073,358 (GRCm39)	E42K	possibly damaging	Het
Lrp1	T	A	10: 127,378,968 (GRCm39)	D4010V	probably damaging	Het
Mark2	A	G	19: 7,258,369 (GRCm39)	V640A	probably benign	Het
Megf6	C	T	4: 154,352,469 (GRCm39)	T1276M	probably damaging	Het
Meioc	T	C	11: 102,566,589 (GRCm39)	M735T	probably damaging	Het
Mfsd4b5	C	A	10: 39,846,735 (GRCm39)	V282L	probably damaging	Het
Mlx	T	A	11: 100,981,951 (GRCm39)	V286E		Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Muc1	C	T	3: 89,139,412 (GRCm39)	P604L	probably damaging	Het
Net1	G	T	13: 3,934,214 (GRCm39)	D548E	probably benign	Het
Ngly1	T	C	14: 16,281,769 (GRCm38)	S342P	probably damaging	Het
Niban1	A	G	1: 151,584,950 (GRCm39)	K516E	probably damaging	Het
Nipbl	A	T	15: 8,330,210 (GRCm39)	I2405N	probably damaging	Het
Nkx2-1	A	T	12: 56,580,206 (GRCm39)	C245S	probably benign	Het
Or52ab7	T	C	7: 102,978,023 (GRCm39)	I110T	probably damaging	Het
Or5p76	T	A	7: 108,122,936 (GRCm39)	I74L	probably benign	Het
Pcare	T	C	17: 72,056,326 (GRCm39)	Y1117C	probably benign	Het
Pcdhgb5	C	T	18: 37,865,501 (GRCm39)	T432I	probably benign	Het
Plpp4	T	A	7: 128,909,362 (GRCm39)	L24*	probably null	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Sass6	C	A	3: 116,399,384 (GRCm39)	Q93K	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,308 (GRCm39)	N177S	possibly damaging	Het
Slc22a30	A	G	19: 8,363,754 (GRCm39)		probably null	Het
Snd1	A	G	6: 28,526,968 (GRCm39)	H217R	probably benign	Het
Spata31d1c	C	A	13: 65,183,804 (GRCm39)	Q449K	possibly damaging	Het
Spidr	A	G	16: 15,707,630 (GRCm39)	V889A	probably damaging	Het
Suclg2	A	T	6: 95,572,650 (GRCm39)	V105D	probably damaging	Het
Syne1	A	T	10: 5,078,503 (GRCm39)	M974K	probably benign	Het
Tbrg4	A	T	11: 6,566,691 (GRCm39)	D605E	probably benign	Het
Tcn2	A	G	11: 3,876,074 (GRCm39)	F118S	possibly damaging	Het
Tcstv2b	T	A	13: 120,377,825 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,367,238 (GRCm39)	H208R	probably benign	Het
Trf	A	G	9: 103,107,529 (GRCm39)		probably benign	Het
Trpc4	A	T	3: 54,102,122 (GRCm39)	K7*	probably null	Het
Uap1	G	T	1: 169,976,984 (GRCm39)	P405Q	probably damaging	Het
Usp33	C	A	3: 152,073,967 (GRCm39)	T271N	probably benign	Het
Usp42	T	C	5: 143,702,632 (GRCm39)	D663G	possibly damaging	Het
Vmn2r10	T	C	5: 109,144,126 (GRCm39)	D608G	probably benign	Het
Wfdc16	G	A	2: 164,480,486 (GRCm39)	P3L	probably benign	Het
Zfp28	T	C	7: 6,397,938 (GRCm39)	I791T	probably benign	Het
Zfp970	A	T	2: 177,165,088 (GRCm39)	T5S	probably damaging	Het
Zfy1	A	T	Y: 726,501 (GRCm39)	H421Q	possibly damaging	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
R0319:Kcnv2	UTSW	19	27,301,424 (GRCm39)	missense	probably benign	0.25
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
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'- TAGGTAAGCATCTCCACCGTG -3'
(R):5'- TGAACAGAATGCTCTTTGTGTG -3'

Sequencing Primer
(F):5'- ATCTCCACCGTGGGCTATG -3'
(R):5'- AACAGAATGCTCTTTGTGTGTGTTG -3'

Posted On

2021-07-15