Mutagenetix > Incidental Mutation

Incidental Mutation 'R6305:Kcnv2'

509626

Institutional Source

Beutler Lab

Gene Symbol

Kcnv2

Ensembl Gene

ENSMUSG00000047298

Gene Name

potassium channel, subfamily V, member 2

Synonyms

KV11.1

MMRRC Submission

044411-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6305 (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 27301237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 363 (F363L)

Ref Sequence

ENSEMBL: ENSMUSP00000055091 (fasta)

Gene Model

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

AlphaFold

Q8CFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000056708
AA Change: F363L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000055091
Gene: ENSMUSG00000047298
AA Change: F363L

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

0.0696

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (61/63)

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
1110002E22Rik	T	C	3: 137,773,741 (GRCm39)	S977P	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adcy6	T	A	15: 98,496,526 (GRCm39)	I550L	probably benign	Het
Agbl3	G	A	6: 34,759,145 (GRCm39)	D19N	unknown	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgap39	T	A	15: 76,621,902 (GRCm39)	D233V	probably benign	Het
Bcl9	G	A	3: 97,113,254 (GRCm39)	P1067L	possibly damaging	Het
Casd1	C	T	6: 4,641,892 (GRCm39)	T723I	probably damaging	Het
Cd209g	T	A	8: 4,186,809 (GRCm39)	I118N	probably benign	Het
Cdh24	A	T	14: 54,869,813 (GRCm39)	D701E	possibly damaging	Het
Chd9	C	T	8: 91,757,174 (GRCm39)	P1858S	possibly damaging	Het
Csnk1g3	T	A	18: 54,065,384 (GRCm39)	Y322*	probably null	Het
Cyp2f2	G	A	7: 26,828,649 (GRCm39)	R173H	probably damaging	Het
D130043K22Rik	T	C	13: 25,069,668 (GRCm39)	F909S	probably damaging	Het
Dll4	T	A	2: 119,161,138 (GRCm39)	S299T	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg4	T	A	18: 20,582,847 (GRCm39)	Y162N	probably damaging	Het
Enpp1	T	C	10: 24,517,780 (GRCm39)	Y882C	probably damaging	Het
Fbxw7	T	A	3: 84,883,630 (GRCm39)	N520K	probably damaging	Het
Galc	C	T	12: 98,225,549 (GRCm39)	A14T	possibly damaging	Het
Grm7	G	A	6: 111,335,626 (GRCm39)	R679Q	probably damaging	Het
Hnrnpdl	T	C	5: 100,186,517 (GRCm39)		probably benign	Het
Il12a	A	T	3: 68,601,511 (GRCm39)	K77N	possibly damaging	Het
Il17rd	C	T	14: 26,817,899 (GRCm39)	S196L	possibly damaging	Het
Lair1	A	G	7: 4,013,727 (GRCm39)		probably null	Het
Lrit3	G	A	3: 129,594,109 (GRCm39)	T156I	probably damaging	Het
Me2	T	A	18: 73,924,915 (GRCm39)	R267S	probably benign	Het
Mga	T	C	2: 119,778,179 (GRCm39)	V1908A	probably benign	Het
Mylk3	T	A	8: 86,077,048 (GRCm39)	I463F	probably damaging	Het
Neb	G	A	2: 52,141,775 (GRCm39)	R75*	probably null	Het
Niban1	T	C	1: 151,571,469 (GRCm39)	L248P	probably damaging	Het
Or10a3b	C	T	7: 108,444,761 (GRCm39)	G152D	possibly damaging	Het
Or1j11	T	A	2: 36,311,634 (GRCm39)	S75T	probably damaging	Het
Or5p50	T	G	7: 107,421,864 (GRCm39)	T271P	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TG	TGGTGTTGG	9: 37,937,838 (GRCm39)		probably null	Het
Or8k33	A	G	2: 86,383,839 (GRCm39)	S210P	possibly damaging	Het
Pfas	A	G	11: 68,892,023 (GRCm39)	S162P	possibly damaging	Het
Pip5k1c	T	A	10: 81,151,768 (GRCm39)	V654E	probably benign	Het
Plxdc1	C	A	11: 97,829,416 (GRCm39)	C318F	probably damaging	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rexo5	A	T	7: 119,427,348 (GRCm39)	K419N	probably damaging	Het
Septin4	C	T	11: 87,458,145 (GRCm39)	T173M	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc24a4	C	A	12: 102,188,360 (GRCm39)	T151K	possibly damaging	Het
Slc6a15	A	T	10: 103,225,031 (GRCm39)	I40F	probably benign	Het
Slc6a21	T	C	7: 44,930,028 (GRCm39)	V172A	possibly damaging	Het
Thrap3	A	G	4: 126,074,600 (GRCm39)		probably benign	Het
Tm9sf3	A	G	19: 41,233,881 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,479,533 (GRCm39)	H211L	probably damaging	Het
Ttc21b	A	T	2: 66,018,614 (GRCm39)	N1264K	probably damaging	Het
Vmn1r120	A	T	7: 20,787,531 (GRCm39)	V60E	possibly damaging	Het
Ylpm1	A	G	12: 85,077,319 (GRCm39)	E890G	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp934	T	C	13: 62,666,370 (GRCm39)	Y102C	probably 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
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'- AGAAGCCCTTTTCCTCTGTGG -3'
(R):5'- GATGCCCATAGTGATGAAGAGC -3'

Sequencing Primer
(F):5'- CGTGCTCATCTCCGTGGTG -3'
(R):5'- AGCCCACCTGCTGGTAG -3'

Posted On

2018-04-02