Mutagenetix > Incidental Mutations

Incidental Mutation 'R5469:V1ra8'

433406

Institutional Source

Beutler Lab

Gene Symbol

V1ra8

Ensembl Gene

ENSMUSG00000062546

Gene Name

vomeronasal 1 receptor, A8

Synonyms

MMRRC Submission

043030-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90202793-90203682 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90203204 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 130 (H130Y)

Ref Sequence

ENSEMBL: ENSMUSP00000077479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078371]

Predicted Effect

probably benign
Transcript: ENSMUST00000078371
AA Change: H130Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000077479
Gene: ENSMUSG00000062546
AA Change: H130Y

Domain	Start	End	E-Value	Type
Pfam:V1R	38	272	2e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204789

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Allc	A	T	12: 28,555,306	N331K	probably benign	Het
Anapc1	G	T	2: 128,675,701	S341*	probably null	Het
Cacna1e	T	C	1: 154,443,937	E1339G	probably damaging	Het
Cacna2d1	T	A	5: 16,352,678	I702N	probably damaging	Het
Casp2	C	A	6: 42,269,334	H209N	probably benign	Het
Casr	A	G	16: 36,510,030	V314A	probably benign	Het
Ccne2	A	T	4: 11,201,353	R294*	probably null	Het
Cd180	T	A	13: 102,704,834	H129Q	probably benign	Het
Chst10	A	T	1: 38,865,527	Y362N	probably damaging	Het
Ctnna1	T	A	18: 35,239,520	D509E	probably benign	Het
Ctsh	G	T	9: 90,060,511		probably null	Het
Dhx29	C	T	13: 112,944,539	A369V	possibly damaging	Het
Enox1	A	G	14: 77,592,974	T340A	probably benign	Het
Fam135b	T	A	15: 71,446,043	T1357S	probably benign	Het
Flt3	A	T	5: 147,355,083	S544T	possibly damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Gsap	A	T	5: 21,290,544	Y831F	possibly damaging	Het
Hnrnpr	C	T	4: 136,319,434	T142M	probably damaging	Het
Jak3	A	G	8: 71,678,773	D94G	probably benign	Het
Ktn1	A	T	14: 47,690,920	E579D	probably damaging	Het
Lama2	G	A	10: 27,041,189	P2247S	possibly damaging	Het
Lrba	C	T	3: 86,542,641	S2089F	probably damaging	Het
Map1b	C	T	13: 99,429,338	V2292M	unknown	Het
Mphosph10	A	T	7: 64,389,445		probably null	Het
Pappa	C	T	4: 65,205,152	T908M	probably benign	Het
Pdcd10	T	A	3: 75,521,057	K150*	probably null	Het
Piezo2	A	T	18: 63,027,864	I2275N	probably damaging	Het
Pmvk	T	C	3: 89,467,682		probably null	Het
Pold2	G	A	11: 5,873,048	P376S	probably damaging	Het
Prtg	A	T	9: 72,891,965	Q759L	probably damaging	Het
Rad51ap1	C	T	6: 126,928,227	S107N	probably damaging	Het
Rfk	T	A	19: 17,395,202	N29K	probably damaging	Het
Ror2	T	C	13: 53,117,339	M315V	probably benign	Het
Rrn3	A	G	16: 13,813,100	E600G	probably benign	Het
Ryk	A	G	9: 102,906,954	Y593C	possibly damaging	Het
Slc30a3	T	A	5: 31,088,660	D193V	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Srbd1	C	A	17: 86,119,942	C421F	possibly damaging	Het
Sstr5	A	C	17: 25,492,069	V62G	probably damaging	Het
Tfip11	G	A	5: 112,334,325	W483*	probably null	Het
Tlk1	T	C	2: 70,721,668	H553R	probably benign	Het
Tnc	T	C	4: 64,013,925		probably null	Het
Trav12-1	A	G	14: 53,538,473	T27A	probably damaging	Het
Usp9y	G	A	Y: 1,364,714	T1033I	probably benign	Het
Vmn2r77	A	T	7: 86,802,063	M386L	probably benign	Het

Other mutations in V1ra8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02197:V1ra8	APN	6	90203202	missense	probably benign	0.17
IGL02572:V1ra8	APN	6	90203058	missense	probably damaging	1.00
R0368:V1ra8	UTSW	6	90202962	missense	probably damaging	1.00
R0395:V1ra8	UTSW	6	90203009	missense	possibly damaging	0.93
R1476:V1ra8	UTSW	6	90203150	missense	probably damaging	1.00
R1709:V1ra8	UTSW	6	90203322	missense	probably damaging	1.00
R2189:V1ra8	UTSW	6	90202962	missense	probably damaging	1.00
R2288:V1ra8	UTSW	6	90203042	missense	probably damaging	1.00
R3962:V1ra8	UTSW	6	90203484	missense	probably benign	0.02
R5380:V1ra8	UTSW	6	90203022	missense	probably damaging	1.00
R5521:V1ra8	UTSW	6	90203054	missense	probably damaging	1.00
R5651:V1ra8	UTSW	6	90203526	missense	probably benign	0.18
R6088:V1ra8	UTSW	6	90203100	missense	probably damaging	1.00
R6527:V1ra8	UTSW	6	90203313	missense	probably damaging	0.97
R7804:V1ra8	UTSW	6	90203316	missense	probably damaging	1.00
R8326:V1ra8	UTSW	6	90203264	missense	possibly damaging	0.55
R8355:V1ra8	UTSW	6	90203465	missense	probably damaging	1.00
R8427:V1ra8	UTSW	6	90203577	missense	probably damaging	1.00
R8455:V1ra8	UTSW	6	90203465	missense	probably damaging	1.00
RF008:V1ra8	UTSW	6	90203609	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTAGTGATGCTGCTACTTGC -3'
(R):5'- TCCTGAAAGTCAACAGTGTGG -3'

Sequencing Primer
(F):5'- GCTACTTGCAGCATATATAACAGAAG -3'
(R):5'- TCAACAGTGTGGAAAAGGTATGTTGC -3'

Posted On

2016-10-06