Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02370:Vmn2r124'

290872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r124

Ensembl Gene

ENSMUSG00000094396

Gene Name

vomeronasal 2, receptor 124

Synonyms

Gm7196, Vmn2r-ps113

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

18049424-18079732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18064191 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 498 (Q498R)

Ref Sequence

ENSEMBL: ENSMUSP00000135613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176802] [ENSMUST00000231546]

Predicted Effect

probably benign
Transcript: ENSMUST00000176802
AA Change: Q498R

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: Q498R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	84	449	2.2e-37	PFAM
Pfam:NCD3G	510	563	9.3e-21	PFAM
Pfam:7tm_3	596	831	1.6e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231546

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,263,074	V482A	probably benign	Het
4732471J01Rik	T	C	7: 25,384,888		probably benign	Het
Abra	T	C	15: 41,869,244	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,356,532	N199D	probably damaging	Het
Baz2b	A	T	2: 59,923,589	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,085,347	I312V	probably damaging	Het
Chrd	A	G	16: 20,735,791	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,354,576	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,471,950		probably null	Het
Cntnap3	A	T	13: 64,751,751	M976K	probably benign	Het
Cyp27b1	T	C	10: 127,050,674		probably benign	Het
Ddx54	T	A	5: 120,619,787	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,635,397	V407A	probably benign	Het
Elp4	A	G	2: 105,794,592	S201P	probably damaging	Het
Exoc3	A	T	13: 74,192,761	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671	I117T	probably damaging	Het
Gbx2	A	T	1: 89,929,149		probably benign	Het
Gm4858	A	G	3: 93,074,047	D124G	possibly damaging	Het
Hnf1b	A	C	11: 83,882,733	T253P	possibly damaging	Het
Itih5	A	T	2: 10,186,975	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,710,935	N677S	probably benign	Het
Knstrn	T	A	2: 118,823,788		probably null	Het
Lin9	G	T	1: 180,688,018	C451F	probably damaging	Het
Mast1	A	C	8: 84,912,254	V1482G	probably benign	Het
Mroh4	A	G	15: 74,625,541	F144L	probably benign	Het
Myrf	T	C	19: 10,214,140	N945D	probably benign	Het
Nfrkb	G	A	9: 31,389,012	G33D	probably benign	Het
Olfr1036	C	A	2: 86,074,788	T16K	probably damaging	Het
P2ry13	T	C	3: 59,209,465	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,514,592		probably null	Het
Pitpnm3	A	G	11: 72,051,858	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,137,348	R266W	probably damaging	Het
Rcn3	T	C	7: 45,083,333	S304G	probably benign	Het
Rinl	A	G	7: 28,794,972		probably null	Het
Sema5a	T	C	15: 32,682,299		probably benign	Het
Sipa1l2	A	G	8: 125,480,269	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,877,629	I656T	probably benign	Het
Sptan1	A	G	2: 30,030,740	K2404R	probably damaging	Het
Tarsl2	C	A	7: 65,661,165	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,495,218	V627I	possibly damaging	Het
Tfcp2	A	T	15: 100,512,304	V394D	probably damaging	Het
Trerf1	C	T	17: 47,314,461		noncoding transcript	Het
Ucp2	A	G	7: 100,498,384	N190S	probably damaging	Het
Yeats2	T	A	16: 20,150,471	I4N	probably damaging	Het
Zfp574	T	G	7: 25,079,589	I12S	possibly damaging	Het
Zscan29	T	A	2: 121,163,833	E522V	probably benign	Het

Other mutations in Vmn2r124

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Vmn2r124	APN	17	18062670	missense	probably benign	0.04
IGL01356:Vmn2r124	APN	17	18073471	missense	probably benign	0.08
IGL01387:Vmn2r124	APN	17	18062926	missense	probably damaging	0.98
IGL01413:Vmn2r124	APN	17	18062565	missense	probably benign	0.41
IGL01550:Vmn2r124	APN	17	18063355	critical splice donor site	probably null
IGL01759:Vmn2r124	APN	17	18064068	missense	probably benign	0.00
IGL01762:Vmn2r124	APN	17	18063172	missense	possibly damaging	0.51
IGL02132:Vmn2r124	APN	17	18064229	splice site	probably benign
IGL02290:Vmn2r124	APN	17	18073335	missense	probably benign	0.09
IGL02527:Vmn2r124	APN	17	18066502	critical splice acceptor site	probably null
PIT4280001:Vmn2r124	UTSW	17	18063225	missense	probably benign	0.22
PIT4514001:Vmn2r124	UTSW	17	18073712	missense	probably benign	0.01
R0362:Vmn2r124	UTSW	17	18064224	critical splice donor site	probably null
R0401:Vmn2r124	UTSW	17	18064145	missense	probably damaging	0.99
R0513:Vmn2r124	UTSW	17	18073729	missense	possibly damaging	0.89
R1139:Vmn2r124	UTSW	17	18073790	missense	possibly damaging	0.56
R1513:Vmn2r124	UTSW	17	18063273	missense	probably damaging	1.00
R1669:Vmn2r124	UTSW	17	18062944	missense	possibly damaging	0.94
R1710:Vmn2r124	UTSW	17	18061925	splice site	probably benign
R1852:Vmn2r124	UTSW	17	18063174	missense	probably benign
R1860:Vmn2r124	UTSW	17	18049497	missense	probably benign	0.11
R1953:Vmn2r124	UTSW	17	18062860	missense	probably benign	0.08
R2233:Vmn2r124	UTSW	17	18049665	missense	possibly damaging	0.95
R2234:Vmn2r124	UTSW	17	18049665	missense	possibly damaging	0.95
R2235:Vmn2r124	UTSW	17	18049665	missense	possibly damaging	0.95
R2397:Vmn2r124	UTSW	17	18049597	missense	possibly damaging	0.95
R2519:Vmn2r124	UTSW	17	18074018	missense	probably damaging	1.00
R3845:Vmn2r124	UTSW	17	18073691	missense	possibly damaging	0.90
R3846:Vmn2r124	UTSW	17	18073691	missense	possibly damaging	0.90
R4594:Vmn2r124	UTSW	17	18073969	missense	probably damaging	1.00
R4612:Vmn2r124	UTSW	17	18063022	missense	probably benign	0.12
R4790:Vmn2r124	UTSW	17	18049593	missense	probably damaging	1.00
R4809:Vmn2r124	UTSW	17	18073745	missense	probably benign	0.00
R5227:Vmn2r124	UTSW	17	18049557	missense	possibly damaging	0.95
R5254:Vmn2r124	UTSW	17	18063077	missense	probably benign	0.00
R5609:Vmn2r124	UTSW	17	18073840	missense	probably benign
R6145:Vmn2r124	UTSW	17	18062851	missense	probably benign	0.05
R6181:Vmn2r124	UTSW	17	18073757	missense	possibly damaging	0.93
R6271:Vmn2r124	UTSW	17	18062883	missense	probably benign	0.01
R7297:Vmn2r124	UTSW	17	18073573	missense	probably damaging	1.00
R7397:Vmn2r124	UTSW	17	18062685	missense	probably damaging	1.00
R7406:Vmn2r124	UTSW	17	18062044	missense	unknown
R7699:Vmn2r124	UTSW	17	18073723	missense	probably benign	0.00
R7859:Vmn2r124	UTSW	17	18061950	missense	probably damaging	1.00
R8121:Vmn2r124	UTSW	17	18062171	missense	probably benign
R8138:Vmn2r124	UTSW	17	18063348	missense	probably damaging	0.99

Posted On

2015-04-16