Mutagenetix > Incidental Mutation

Incidental Mutation 'R5923:Vmn1r12'

461673

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r12

Ensembl Gene

ENSMUSG00000057981

Gene Name

vomeronasal 1 receptor 12

Synonyms

Gm6674

MMRRC Submission

043241-MU

Accession Numbers

Essential gene?

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

Stock #

R5923 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57135905-57136828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57136020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 39 (G39D)

Ref Sequence

ENSEMBL: ENSMUSP00000154607 (fasta)

Gene Model

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

AlphaFold

G5E8G1

Predicted Effect

probably benign
Transcript: ENSMUST00000073384
AA Change: G39D

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073098
Gene: ENSMUSG00000057981
AA Change: G39D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226866
AA Change: G39D

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000227581

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	G	10: 120,614,675 (GRCm39)		probably benign	Het
Abca9	A	G	11: 110,051,378 (GRCm39)	V106A	probably benign	Het
Arnt2	G	T	7: 83,911,741 (GRCm39)	T577K	probably benign	Het
Bod1l	G	A	5: 41,974,762 (GRCm39)	T2184I	probably damaging	Het
Brpf3	G	A	17: 29,025,610 (GRCm39)	V228I	possibly damaging	Het
Cacna1d	T	C	14: 29,833,105 (GRCm39)	N890S	probably damaging	Het
Cacna1s	T	A	1: 136,004,560 (GRCm39)	M120K	possibly damaging	Het
Cdr2	A	G	7: 120,581,224 (GRCm39)	Y18H	probably damaging	Het
Cilp2	A	G	8: 70,335,525 (GRCm39)	F491S	probably damaging	Het
Cubn	A	T	2: 13,490,889 (GRCm39)	S185T	possibly damaging	Het
Dst	T	C	1: 34,220,840 (GRCm39)	S2215P	probably benign	Het
Echdc3	A	G	2: 6,194,383 (GRCm39)	V224A	possibly damaging	Het
Hivep3	G	T	4: 119,953,490 (GRCm39)	S602I	possibly damaging	Het
Itga2	T	C	13: 115,021,055 (GRCm39)	S99G	probably benign	Het
Kat6a	A	G	8: 23,429,495 (GRCm39)	T1617A	probably benign	Het
Map1b	T	C	13: 99,569,661 (GRCm39)	E1020G	unknown	Het
Nbeal1	T	C	1: 60,287,554 (GRCm39)	F933L	probably damaging	Het
Ntrk3	A	T	7: 78,101,676 (GRCm39)	I419N	possibly damaging	Het
Nup188	A	G	2: 30,194,102 (GRCm39)	I136V	probably benign	Het
Or8b38	T	A	9: 37,973,154 (GRCm39)	D179E	probably benign	Het
Plcb4	A	T	2: 135,803,734 (GRCm39)	K536*	probably null	Het
Polk	A	T	13: 96,631,923 (GRCm39)	I270N	probably damaging	Het
Prl6a1	A	T	13: 27,500,346 (GRCm39)	M106L	probably benign	Het
Scap	G	T	9: 110,212,648 (GRCm39)	D1027Y	probably damaging	Het
Spg11	A	T	2: 121,923,959 (GRCm39)	H787Q	probably damaging	Het
Tatdn3	T	C	1: 190,781,507 (GRCm39)	D215G	probably damaging	Het
Tbcd	G	A	11: 121,470,978 (GRCm39)	C665Y	probably benign	Het
Tmc8	C	T	11: 117,674,638 (GRCm39)	R118C	probably damaging	Het
Ttn	T	A	2: 76,642,901 (GRCm39)	H13245L	probably damaging	Het
Unc79	T	C	12: 103,078,727 (GRCm39)	S1631P	probably damaging	Het
Vmn2r24	A	G	6: 123,792,751 (GRCm39)	S693G	probably damaging	Het
Zc3h3	G	T	15: 75,657,413 (GRCm39)	R593S	probably damaging	Het
Zfp598	T	C	17: 24,896,523 (GRCm39)	L200P	probably damaging	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
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
R8468:Vmn1r12	UTSW	6	57,136,370 (GRCm39)	missense	probably benign	0.01
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'- CCAGTGAATCACAAGTTTCATGC -3'
(R):5'- TGACAGCCTGGAACACACTC -3'

Sequencing Primer
(F):5'- GTGAATCACAAGTTTCATGCAGTCTC -3'
(R):5'- GCCTGGAACACACTCAGGAG -3'

Posted On

2017-02-28