Mutagenetix > Incidental Mutation

Incidental Mutation 'R7936:Kcnv2'

648780

Institutional Source

Beutler Lab

Gene Symbol

Kcnv2

Ensembl Gene

ENSMUSG00000047298

Gene Name

potassium channel, subfamily V, member 2

Synonyms

KV11.1

MMRRC Submission

045982-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7936 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27299988-27314579 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27300167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 6 (N6S)

Ref Sequence

ENSEMBL: ENSMUSP00000055091 (fasta)

Gene Model

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

AlphaFold

Q8CFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000056708
AA Change: N6S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000055091
Gene: ENSMUSG00000047298
AA Change: N6S

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,900,445 (GRCm39)	L438*	probably null	Het
Adamts18	T	A	8: 114,493,760 (GRCm39)	I460F	probably damaging	Het
Api5	C	T	2: 94,268,392 (GRCm39)		probably benign	Het
Arap2	A	G	5: 62,888,048 (GRCm39)	S433P	probably damaging	Het
Arhgap26	T	C	18: 39,338,340 (GRCm39)	Y371H	probably damaging	Het
Asf1b	T	C	8: 84,695,848 (GRCm39)	I163T	probably benign	Het
Cacna2d2	A	G	9: 107,401,326 (GRCm39)	N696S	probably damaging	Het
Carns1	A	C	19: 4,216,152 (GRCm39)	S677A	probably benign	Het
Cd276	G	A	9: 58,448,113 (GRCm39)		probably benign	Het
Cdk8	T	A	5: 146,236,644 (GRCm39)	M353K	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chsy3	A	G	18: 59,542,418 (GRCm39)	I519V	probably damaging	Het
Chtop	T	C	3: 90,414,658 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Col16a1	A	T	4: 129,990,664 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,345,983 (GRCm39)	E2441G	possibly damaging	Het
Dpy19l2	T	G	9: 24,469,454 (GRCm39)	D734A	probably damaging	Het
Dusp2	T	A	2: 127,178,812 (GRCm39)	Y172*	probably null	Het
Efcab3	A	G	11: 104,890,524 (GRCm39)	N4202S	possibly damaging	Het
Efcab3	G	A	11: 104,937,385 (GRCm39)		probably null	Het
Eml4	G	A	17: 83,781,115 (GRCm39)	R771Q	possibly damaging	Het
Fat2	T	A	11: 55,200,993 (GRCm39)	M694L	probably benign	Het
Fat2	C	A	11: 55,201,986 (GRCm39)	E363*	probably null	Het
Gdpgp1	A	G	7: 79,888,826 (GRCm39)	I286V	probably damaging	Het
Gps1	T	A	11: 120,677,199 (GRCm39)	V166E	probably damaging	Het
H60b	T	A	10: 22,162,055 (GRCm39)	N93K	probably benign	Het
Imp4	C	T	1: 34,482,114 (GRCm39)	T79I	probably benign	Het
Kank3	A	G	17: 34,037,841 (GRCm39)	S485G	probably benign	Het
Krba1	A	T	6: 48,388,603 (GRCm39)	Q534L	probably damaging	Het
Lgr4	A	G	2: 109,836,863 (GRCm39)	N399S	probably damaging	Het
Lgr5	A	G	10: 115,288,952 (GRCm39)	V564A	probably damaging	Het
Lrtm2	A	G	6: 119,297,394 (GRCm39)	F216L	probably benign	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Mboat2	C	T	12: 25,005,392 (GRCm39)	T389M	probably damaging	Het
Mcoln1	T	G	8: 3,555,924 (GRCm39)	I73S	probably damaging	Het
Myh7	T	A	14: 55,216,920 (GRCm39)	I1146F	possibly damaging	Het
Naa16	G	A	14: 79,578,486 (GRCm39)	T666I	possibly damaging	Het
Ncoa1	A	G	12: 4,385,873 (GRCm39)	S88P	possibly damaging	Het
Obscn	T	C	11: 58,941,334 (GRCm39)	T4496A	possibly damaging	Het
Or13a28	T	C	7: 140,217,652 (GRCm39)	F13L	probably damaging	Het
Or7a35	T	A	10: 78,853,872 (GRCm39)	F239I	probably damaging	Het
Pdxk	G	T	10: 78,277,012 (GRCm39)	A262D	possibly damaging	Het
Pebp4	T	A	14: 70,089,082 (GRCm39)	L68Q	probably damaging	Het
Pfdn5	C	T	15: 102,236,978 (GRCm39)	H77Y	possibly damaging	Het
Pld1	T	C	3: 28,130,651 (GRCm39)	Y484H	probably damaging	Het
Pou3f3	C	A	1: 42,736,560 (GRCm39)	N85K	unknown	Het
Ppm1m	C	A	9: 106,075,144 (GRCm39)	A134S	probably damaging	Het
Prdm11	A	T	2: 92,806,106 (GRCm39)	S281R	possibly damaging	Het
Prdm2	C	A	4: 142,862,434 (GRCm39)	L285F	probably damaging	Het
Ptchd3	C	T	11: 121,721,939 (GRCm39)	R271*	probably null	Het
Ptprq	A	C	10: 107,488,572 (GRCm39)	V955G	probably damaging	Het
Pygb	A	T	2: 150,657,589 (GRCm39)	M351L	probably benign	Het
Rcl1	G	A	19: 29,095,805 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,786,097 (GRCm39)	T351S	possibly damaging	Het
Slc22a5	T	C	11: 53,760,215 (GRCm39)	N367S	probably damaging	Het
Sox6	A	G	7: 115,143,830 (GRCm39)	V437A	probably benign	Het
Spata16	T	A	3: 26,721,572 (GRCm39)	M31K	possibly damaging	Het
Stab1	C	A	14: 30,879,372 (GRCm39)	V703F	possibly damaging	Het
Tbc1d4	C	T	14: 101,703,190 (GRCm39)	G752R	probably damaging	Het
Tent4b	G	A	8: 88,978,913 (GRCm39)	G505R	probably null	Het
Tes3-ps	C	T	13: 49,647,460 (GRCm39)	A112V	probably benign	Het
Tnfrsf19	T	C	14: 61,208,382 (GRCm39)	T380A	probably benign	Het
Trim75	C	T	8: 65,435,190 (GRCm39)	G420E	probably damaging	Het
Txlnb	A	G	10: 17,703,712 (GRCm39)	D290G	probably benign	Het
Unc5c	T	A	3: 141,534,238 (GRCm39)	F920I	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,237 (GRCm39)	R238*	probably null	Het
Vmn2r113	A	G	17: 23,176,917 (GRCm39)	E567G	probably benign	Het
Vmn2r97	T	A	17: 19,150,662 (GRCm39)	I503K	probably damaging	Het
Wdr62	A	G	7: 29,964,584 (GRCm39)	W387R	probably damaging	Het
Zfp36l2	A	T	17: 84,495,090 (GRCm39)	D11E	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
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
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'- TTCAGATCTGGCAGGCTAGC -3'
(R):5'- TTCGGCAAGATCATCCTTCC -3'

Sequencing Primer
(F):5'- CCTGGACTTTTTCAGGACAGAAG -3'
(R):5'- GGCAAGATCATCCTTCCAGTCC -3'

Posted On

2020-09-15