Mutagenetix > Incidental Mutation

Incidental Mutation 'R6580:Vmn2r130'

524119

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r130

Ensembl Gene

ENSMUSG00000095658

Gene Name

vomeronasal 2, receptor 130

Synonyms

Vmn2r-ps130

MMRRC Submission

044704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23280341-23296399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23282740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 140 (V140A)

Ref Sequence

ENSEMBL: ENSMUSP00000135186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000175853]

AlphaFold

A0A140T8U3

Predicted Effect

probably benign
Transcript: ENSMUST00000175853
AA Change: V140A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135186
Gene: ENSMUSG00000095658
AA Change: V140A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	76	469	5.4e-24	PFAM
Pfam:NCD3G	511	563	1.3e-21	PFAM
Pfam:7tm_3	594	831	2.1e-54	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,386 (GRCm39)	R525H	probably benign	Het
Acox3	T	A	5: 35,765,747 (GRCm39)	L600Q	probably damaging	Het
Ankrd49	A	G	9: 14,692,694 (GRCm39)	S157P	probably damaging	Het
Ccdc141	A	G	2: 76,842,099 (GRCm39)	F1444S	possibly damaging	Het
Cimap2	G	T	4: 106,468,711 (GRCm39)	H271N	possibly damaging	Het
Defb28	C	T	2: 152,360,215 (GRCm39)	S10L	possibly damaging	Het
Epha6	T	G	16: 59,502,979 (GRCm39)	N976T	probably damaging	Het
Gm45861	A	G	8: 28,034,979 (GRCm39)	K976E	unknown	Het
Gtf2ird1	T	G	5: 134,389,893 (GRCm39)	N920H	probably damaging	Het
Gtf3c1	A	T	7: 125,243,519 (GRCm39)	M1695K	probably benign	Het
Hfm1	C	T	5: 106,995,575 (GRCm39)	E1279K	probably benign	Het
Il31ra	C	T	13: 112,688,476 (GRCm39)	D34N	possibly damaging	Het
Klhl3	T	A	13: 58,166,701 (GRCm39)	I430F	possibly damaging	Het
Mfhas1	A	G	8: 36,056,419 (GRCm39)	Y298C	probably damaging	Het
Muc20	A	T	16: 32,613,859 (GRCm39)	M506K	possibly damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Naip1	T	A	13: 100,581,157 (GRCm39)	D30V	probably damaging	Het
Nol9	A	G	4: 152,136,218 (GRCm39)	N430S	probably benign	Het
Or8b44	T	C	9: 38,410,319 (GRCm39)	M118T	probably damaging	Het
Palm3	A	G	8: 84,756,177 (GRCm39)	E563G	probably damaging	Het
Pcdhga4	A	G	18: 37,820,370 (GRCm39)	S640G	possibly damaging	Het
Pi4ka	A	G	16: 17,168,694 (GRCm39)	F679L	probably damaging	Het
Pierce1	A	G	2: 28,356,062 (GRCm39)	W74R	probably damaging	Het
Polr3c	A	G	3: 96,634,659 (GRCm39)		probably null	Het
Ptdss2	T	A	7: 140,732,925 (GRCm39)	I236N	probably damaging	Het
Rapgef1	A	G	2: 29,620,621 (GRCm39)	Y879C	possibly damaging	Het
Shc3	T	C	13: 51,596,809 (GRCm39)	T405A	probably benign	Het
Smtnl2	G	T	11: 72,293,859 (GRCm39)	S232R	probably benign	Het
Taar8a	G	A	10: 23,952,791 (GRCm39)	A132T	probably damaging	Het
Tex47	T	C	5: 7,355,212 (GRCm39)	I131T	probably damaging	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmn2r84	A	G	10: 130,225,110 (GRCm39)	W467R	possibly damaging	Het
Zscan12	T	C	13: 21,553,328 (GRCm39)	L384P	probably damaging	Het

Other mutations in Vmn2r130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01929:Vmn2r130	APN	17	23,295,851 (GRCm39)	missense	possibly damaging	0.79
IGL02346:Vmn2r130	APN	17	23,280,501 (GRCm39)	missense	possibly damaging	0.89
IGL02373:Vmn2r130	APN	17	23,295,866 (GRCm39)	nonsense	probably null
R1511:Vmn2r130	UTSW	17	23,282,775 (GRCm39)	missense	probably benign	0.17
R2373:Vmn2r130	UTSW	17	23,280,480 (GRCm39)	missense	possibly damaging	0.93
R5047:Vmn2r130	UTSW	17	23,282,794 (GRCm39)	missense	probably benign
R5317:Vmn2r130	UTSW	17	23,282,557 (GRCm39)	missense	probably benign
R5588:Vmn2r130	UTSW	17	23,282,803 (GRCm39)	missense	probably benign	0.44
R5785:Vmn2r130	UTSW	17	23,280,461 (GRCm39)	missense	probably benign
R6131:Vmn2r130	UTSW	17	23,282,629 (GRCm39)	missense	probably benign	0.00
R6273:Vmn2r130	UTSW	17	23,295,759 (GRCm39)	missense	probably benign	0.12
R7660:Vmn2r130	UTSW	17	23,296,006 (GRCm39)	missense	probably damaging	1.00
R7852:Vmn2r130	UTSW	17	23,282,788 (GRCm39)	missense	probably benign	0.04
R9501:Vmn2r130	UTSW	17	23,282,650 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AATGAAGTCAACAGGAACTCTGATC -3'
(R):5'- CATCAAGACTCTGAATAGTACCCTTG -3'

Sequencing Primer
(F):5'- GTCAACAGGAACTCTGATCTTTTGC -3'
(R):5'- ACTACATAGATTGGCTCAGGC -3'

Posted On

2018-06-22