Mutagenetix > Incidental Mutation

Incidental Mutation 'R2189:V1ra8'

237963

Institutional Source

Beutler Lab

Gene Symbol

V1ra8

Ensembl Gene

ENSMUSG00000062546

Gene Name

vomeronasal 1 receptor, A8

Synonyms

Vmn1r-ps33

MMRRC Submission

040191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2189 (G1)

Quality Score

101

Status

Not validated

Chromosome

Chromosomal Location

90179799-90180638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 90179944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 49 (D49A)

Ref Sequence

ENSEMBL: ENSMUSP00000077479 (fasta)

Gene Model

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

AlphaFold

Q9EQ48

Predicted Effect

probably damaging
Transcript: ENSMUST00000078371
AA Change: D49A

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

SMART Domains

Protein: ENSMUSP00000077479
Gene: ENSMUSG00000062546
AA Change: D49A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204789

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	C	7: 78,747,839 (GRCm39)	G870A	probably damaging	Het
Adamtsl2	T	C	2: 26,971,750 (GRCm39)	W12R	probably benign	Het
Bsph1	G	A	7: 13,204,254 (GRCm39)		probably null	Het
Celsr1	G	T	15: 85,863,431 (GRCm39)	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,371,070 (GRCm39)	Y355*	probably null	Het
Cry2	T	C	2: 92,242,037 (GRCm39)	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,420,975 (GRCm39)		probably null	Het
Eral1	A	G	11: 77,966,657 (GRCm39)	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603 (GRCm39)	M503K	probably benign	Het
Fam83e	G	T	7: 45,371,607 (GRCm39)	M1I	probably null	Het
Flt4	G	A	11: 49,526,525 (GRCm39)	A835T	probably benign	Het
H2bc15	A	G	13: 21,938,447 (GRCm39)	D52G	probably damaging	Het
Hdac4	T	C	1: 91,903,244 (GRCm39)	S562G	probably null	Het
Icosl	A	G	10: 77,909,759 (GRCm39)	T235A	possibly damaging	Het
Itga6	A	G	2: 71,655,961 (GRCm39)	D295G	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lipa	A	T	19: 34,502,199 (GRCm39)	L15Q	probably benign	Het
Mcc	T	C	18: 44,667,297 (GRCm39)	E218G	possibly damaging	Het
Mdga2	A	G	12: 66,519,970 (GRCm39)		probably null	Het
Mmadhc	A	C	2: 50,178,958 (GRCm39)	C153W	probably damaging	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Nlrp1b	T	A	11: 71,060,621 (GRCm39)	Q729L	probably damaging	Het
Ofcc1	T	A	13: 40,333,924 (GRCm39)	Q389L	probably benign	Het
Or52b2	A	G	7: 104,986,809 (GRCm39)	V38A	probably benign	Het
Or5m5	A	G	2: 85,814,412 (GRCm39)	D76G	probably damaging	Het
Or5p4	A	T	7: 107,680,243 (GRCm39)	M81L	possibly damaging	Het
Or5p50	T	C	7: 107,421,822 (GRCm39)	I285V	probably benign	Het
Pml	T	C	9: 58,142,157 (GRCm39)	N225S	probably benign	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Scap	T	A	9: 110,206,761 (GRCm39)	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,743,908 (GRCm39)	L886P	probably damaging	Het
Sugct	T	C	13: 17,836,851 (GRCm39)	I104V	probably benign	Het
Tmem200c	A	G	17: 69,147,681 (GRCm39)	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,334,768 (GRCm39)	L14Q	probably benign	Het
Tnk2	C	T	16: 32,490,239 (GRCm39)	L381F	probably damaging	Het
Ubr2	C	T	17: 47,254,290 (GRCm39)	V1454I	probably benign	Het
Vmn2r5	A	C	3: 64,417,014 (GRCm39)	M48R	probably benign	Het
Yars1	A	G	4: 129,099,982 (GRCm39)	I227V	probably damaging	Het
Zfp850	C	A	7: 27,688,480 (GRCm39)	R576L	probably benign	Het
Zfpm2	T	A	15: 40,964,579 (GRCm39)	F223I	possibly damaging	Het

Other mutations in V1ra8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02197:V1ra8	APN	6	90,180,184 (GRCm39)	missense	probably benign	0.17
IGL02572:V1ra8	APN	6	90,180,040 (GRCm39)	missense	probably damaging	1.00
R0368:V1ra8	UTSW	6	90,179,944 (GRCm39)	missense	probably damaging	1.00
R0395:V1ra8	UTSW	6	90,179,991 (GRCm39)	missense	possibly damaging	0.93
R1476:V1ra8	UTSW	6	90,180,132 (GRCm39)	missense	probably damaging	1.00
R1709:V1ra8	UTSW	6	90,180,304 (GRCm39)	missense	probably damaging	1.00
R2288:V1ra8	UTSW	6	90,180,024 (GRCm39)	missense	probably damaging	1.00
R3962:V1ra8	UTSW	6	90,180,466 (GRCm39)	missense	probably benign	0.02
R5380:V1ra8	UTSW	6	90,180,004 (GRCm39)	missense	probably damaging	1.00
R5469:V1ra8	UTSW	6	90,180,186 (GRCm39)	missense	probably benign	0.00
R5521:V1ra8	UTSW	6	90,180,036 (GRCm39)	missense	probably damaging	1.00
R5651:V1ra8	UTSW	6	90,180,508 (GRCm39)	missense	probably benign	0.18
R6088:V1ra8	UTSW	6	90,180,082 (GRCm39)	missense	probably damaging	1.00
R6527:V1ra8	UTSW	6	90,180,295 (GRCm39)	missense	probably damaging	0.97
R7804:V1ra8	UTSW	6	90,180,298 (GRCm39)	missense	probably damaging	1.00
R8326:V1ra8	UTSW	6	90,180,246 (GRCm39)	missense	possibly damaging	0.55
R8355:V1ra8	UTSW	6	90,180,447 (GRCm39)	missense	probably damaging	1.00
R8427:V1ra8	UTSW	6	90,180,559 (GRCm39)	missense	probably damaging	1.00
R8455:V1ra8	UTSW	6	90,180,447 (GRCm39)	missense	probably damaging	1.00
R8483:V1ra8	UTSW	6	90,179,916 (GRCm39)	missense	probably benign	0.09
R8834:V1ra8	UTSW	6	90,180,622 (GRCm39)	missense	unknown
R8909:V1ra8	UTSW	6	90,179,938 (GRCm39)	missense	possibly damaging	0.70
RF008:V1ra8	UTSW	6	90,180,591 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACAACTACTACGTGCTTCTACCC -3'
(R):5'- TTGAGCTTTGCTAAGTGAGAGC -3'

Sequencing Primer
(F):5'- TGCTTCTACCCAGCATAACATG -3'
(R):5'- TGATGGCCTGGAAGACACTC -3'

Posted On

2014-10-02