Mutagenetix > Incidental Mutation

Incidental Mutation 'R8468:Vmn1r12'

656910

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r12

Ensembl Gene

ENSMUSG00000057981

Gene Name

vomeronasal 1 receptor 12

Synonyms

Gm6674

MMRRC Submission

067912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57135905-57136828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57136370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 112 (T112A)

Ref Sequence

ENSEMBL: ENSMUSP00000154078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073384] [ENSMUST00000226866] [ENSMUST00000227581]

AlphaFold

G5E8G1

Predicted Effect

probably benign
Transcript: ENSMUST00000073384
AA Change: T156A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000073098
Gene: ENSMUSG00000057981
AA Change: T156A

Domain	Start	End	E-Value	Type
Pfam:V1R	35	302	2.3e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226866
AA Change: T156A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000227581
AA Change: T112A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

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

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	G	16: 85,592,444 (GRCm39)	W655R	possibly damaging	Het
Adamts3	C	T	5: 89,842,627 (GRCm39)	A748T	probably benign	Het
Ano1	A	C	7: 144,209,357 (GRCm39)	F248C	probably damaging	Het
Ap2b1	T	A	11: 83,241,891 (GRCm39)	L628Q	probably damaging	Het
BC035947	C	A	1: 78,474,967 (GRCm39)	A522S	probably damaging	Het
Bdp1	A	G	13: 100,197,076 (GRCm39)	V1103A	probably benign	Het
Cd248	T	A	19: 5,119,910 (GRCm39)	I586N	possibly damaging	Het
Dnah9	C	A	11: 65,722,556 (GRCm39)	M4428I	probably benign	Het
Epha5	T	C	5: 84,290,275 (GRCm39)		probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fastkd2	T	A	1: 63,770,923 (GRCm39)	L93Q	probably benign	Het
Gm6665	T	C	18: 31,953,453 (GRCm39)	D5G	possibly damaging	Het
Gphn	T	C	12: 78,273,601 (GRCm39)	V17A	probably benign	Het
Gpr85	A	T	6: 13,836,295 (GRCm39)	L203H	probably damaging	Het
Grk6	A	G	13: 55,599,198 (GRCm39)	Y166C	probably damaging	Het
Ints3	A	G	3: 90,313,560 (GRCm39)	V356A	probably damaging	Het
Krt33b	G	A	11: 99,920,615 (GRCm39)	R13C	probably damaging	Het
Lgals3	A	G	14: 47,619,104 (GRCm39)	I146V	possibly damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Miip	G	T	4: 147,945,928 (GRCm39)	D325E	probably damaging	Het
Naaladl1	T	A	19: 6,158,615 (GRCm39)	V249E	probably damaging	Het
Nfxl1	C	T	5: 72,675,548 (GRCm39)	R811K	possibly damaging	Het
Or12e10	T	C	2: 87,641,082 (GRCm39)	I306T	possibly damaging	Het
Or2ag2b	A	G	7: 106,418,046 (GRCm39)	Y252C	possibly damaging	Het
Or52e7	A	T	7: 104,684,953 (GRCm39)	I183F	probably damaging	Het
Or56a3b	A	G	7: 104,770,685 (GRCm39)	D7G	probably benign	Het
Or5ak24	T	A	2: 85,260,522 (GRCm39)	Y217F	probably damaging	Het
Or6c69c	C	T	10: 129,910,303 (GRCm39)	T8I	probably benign	Het
Pkd2l2	A	G	18: 34,560,464 (GRCm39)	D357G	possibly damaging	Het
Ppp1r36	A	G	12: 76,482,979 (GRCm39)	Y189C	probably damaging	Het
Rev3l	A	G	10: 39,703,987 (GRCm39)	E2011G	probably damaging	Het
Sestd1	T	A	2: 77,022,090 (GRCm39)	T534S	probably benign	Het
Sfmbt1	G	A	14: 30,495,941 (GRCm39)	A75T	probably benign	Het
Smarcc2	G	A	10: 128,320,262 (GRCm39)	R882H	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Speg	C	T	1: 75,407,953 (GRCm39)	A3216V	probably damaging	Het
Zfp937	T	G	2: 150,080,634 (GRCm39)	D221E	probably benign	Het

Other mutations in Vmn1r12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01829:Vmn1r12	APN	6	57,136,649 (GRCm39)	missense	probably damaging	1.00
R1519:Vmn1r12	UTSW	6	57,136,540 (GRCm39)	missense	probably damaging	1.00
R1978:Vmn1r12	UTSW	6	57,136,494 (GRCm39)	missense	possibly damaging	0.89
R1981:Vmn1r12	UTSW	6	57,136,646 (GRCm39)	missense	probably benign	0.03
R4903:Vmn1r12	UTSW	6	57,136,502 (GRCm39)	missense	possibly damaging	0.88
R5445:Vmn1r12	UTSW	6	57,136,466 (GRCm39)	missense	probably benign	0.01
R5725:Vmn1r12	UTSW	6	57,136,694 (GRCm39)	missense	probably benign	0.00
R5923:Vmn1r12	UTSW	6	57,136,020 (GRCm39)	missense	probably benign	0.06
R5991:Vmn1r12	UTSW	6	57,136,640 (GRCm39)	missense	probably damaging	1.00
R7237:Vmn1r12	UTSW	6	57,136,550 (GRCm39)	missense	possibly damaging	0.62
R7369:Vmn1r12	UTSW	6	57,136,683 (GRCm39)	missense	possibly damaging	0.53
R7605:Vmn1r12	UTSW	6	57,136,521 (GRCm39)	missense	probably damaging	1.00
R7658:Vmn1r12	UTSW	6	57,135,883 (GRCm39)	intron	probably benign
R7893:Vmn1r12	UTSW	6	57,136,419 (GRCm39)	missense	probably damaging	1.00
R9746:Vmn1r12	UTSW	6	57,136,526 (GRCm39)	missense	probably benign	0.25
Z1088:Vmn1r12	UTSW	6	57,135,966 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGTCTCTCTATCTGCATCAC -3'
(R):5'- ATGCTCTCAGGCAAGGAGTG -3'

Sequencing Primer
(F):5'- ACCTGCCTCCTGAGTGTG -3'
(R):5'- ATGAAGATGCTTGCATTGCCTC -3'

Posted On

2021-01-18