Mutagenetix > Incidental Mutation

Incidental Mutation 'R7113:Kcnv2'

551655

Institutional Source

Beutler Lab

Gene Symbol

Kcnv2

Ensembl Gene

ENSMUSG00000047298

Gene Name

potassium channel, subfamily V, member 2

Synonyms

KV11.1

MMRRC Submission

045205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27299988-27314579 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27301448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 433 (L433P)

Ref Sequence

ENSEMBL: ENSMUSP00000055091 (fasta)

Gene Model

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

AlphaFold

Q8CFS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000056708
AA Change: L433P

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

SMART Domains

Protein: ENSMUSP00000055091
Gene: ENSMUSG00000047298
AA Change: L433P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (53/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,449,267 (GRCm39)	S226P	probably benign	Het
Adarb2	T	C	13: 8,781,881 (GRCm39)	Y586H	probably damaging	Het
Ano7	A	T	1: 93,313,342 (GRCm39)	E160V	probably benign	Het
Apob	G	C	12: 8,045,539 (GRCm39)	A895P	probably damaging	Het
Ccdc157	T	C	11: 4,098,889 (GRCm39)	T206A	possibly damaging	Het
Ceacam18	A	G	7: 43,291,400 (GRCm39)	N281D	probably benign	Het
Chil4	T	C	3: 106,110,083 (GRCm39)	D337G	probably damaging	Het
Chil4	T	G	3: 106,121,664 (GRCm39)	K62Q	probably benign	Het
Cic	A	T	7: 24,972,869 (GRCm39)	I867F	probably benign	Het
Cntln	A	G	4: 84,968,064 (GRCm39)	E761G	probably damaging	Het
Cyp2d26	T	A	15: 82,674,403 (GRCm39)	Y493F	probably benign	Het
Dync2h1	A	T	9: 7,075,788 (GRCm39)	F3026L	probably benign	Het
Ehd3	T	A	17: 74,137,179 (GRCm39)	D449E	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Herc2	T	G	7: 55,853,597 (GRCm39)	D3696E	probably damaging	Het
Hivep3	T	A	4: 119,955,566 (GRCm39)	I1294N	probably damaging	Het
Il19	T	C	1: 130,862,732 (GRCm39)	I139V	probably benign	Het
Jmjd1c	T	A	10: 66,993,780 (GRCm39)	I87N	probably damaging	Het
Kcnma1	A	G	14: 23,513,224 (GRCm39)	Y392H	probably damaging	Het
Kif9	A	T	9: 110,335,732 (GRCm39)	N378Y	probably damaging	Het
Lonrf1	A	T	8: 36,697,664 (GRCm39)	V440E	probably benign	Het
Lrrc37	A	G	11: 103,509,625 (GRCm39)	I781T	unknown	Het
Manea	A	T	4: 26,336,718 (GRCm39)	L186Q	probably damaging	Het
Mas1	A	G	17: 13,061,324 (GRCm39)	I33T	probably benign	Het
Med13l	A	G	5: 118,864,330 (GRCm39)	S389G	probably benign	Het
Nxph3	T	C	11: 95,401,892 (GRCm39)	N174S	possibly damaging	Het
Or1l4	T	A	2: 37,091,568 (GRCm39)	F105Y	possibly damaging	Het
Or8g52	G	C	9: 39,630,973 (GRCm39)	C150S	probably benign	Het
Pcdha5	A	G	18: 37,094,757 (GRCm39)	D422G	probably benign	Het
Pias4	A	C	10: 80,990,287 (GRCm39)	V416G	possibly damaging	Het
Pik3cg	T	A	12: 32,255,666 (GRCm39)	Y107F	probably damaging	Het
Plcg1	T	A	2: 160,590,203 (GRCm39)	W156R	possibly damaging	Het
Plcl2	A	G	17: 50,913,492 (GRCm39)	D167G	probably damaging	Het
Podxl	T	A	6: 31,501,668 (GRCm39)		probably null	Het
Ppp1r2	T	C	16: 31,073,536 (GRCm39)	D197G	probably benign	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Rad17	A	T	13: 100,766,025 (GRCm39)	S368T	probably benign	Het
Rdh8	G	T	9: 20,736,623 (GRCm39)	R230L	probably benign	Het
Rpl35	A	C	2: 38,894,168 (GRCm39)	L58R	probably damaging	Het
Rtp3	A	C	9: 110,815,767 (GRCm39)	C199W	probably damaging	Het
S100pbp	G	A	4: 129,075,896 (GRCm39)	T143I	probably damaging	Het
Scarf1	A	G	11: 75,416,904 (GRCm39)	E782G	probably damaging	Het
Slc30a9	T	C	5: 67,484,205 (GRCm39)	V114A	probably benign	Het
Speer1c	G	A	5: 10,292,977 (GRCm39)	P189S		Het
Stpg2	G	A	3: 139,407,535 (GRCm39)		probably null	Het
Tdpoz1	T	C	3: 93,578,113 (GRCm39)	S224G	possibly damaging	Het
Triml2	T	A	8: 43,636,370 (GRCm39)	Y52N	probably benign	Het
Trpm2	A	T	10: 77,783,765 (GRCm39)	I236N	probably damaging	Het
Unc5c	A	G	3: 141,507,054 (GRCm39)	D602G	probably benign	Het
Upk1a	A	G	7: 30,309,236 (GRCm39)	S29P	probably damaging	Het
Vmn2r54	A	G	7: 12,350,001 (GRCm39)	L527P	probably damaging	Het
Vmn2r72	A	T	7: 85,399,011 (GRCm39)		probably null	Het
Vstm2l	G	T	2: 157,756,649 (GRCm39)		probably benign	Het
Vwf	G	T	6: 125,632,007 (GRCm39)	G1952V		Het
Zfand6	A	C	7: 84,265,077 (GRCm39)	I208S	probably damaging	Het
Zfp236	A	G	18: 82,638,462 (GRCm39)	I1386T	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
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'- TCAACCTAGTGGACCTGGTG -3'
(R):5'- GGTTAGAGGCAACCATGTGG -3'

Sequencing Primer
(F):5'- TGCTCGAGTGCTTCACG -3'
(R):5'- TATCCTTTAGCAAGACCAGGAAAG -3'

Posted On

2019-05-15