Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01929:Vmn2r130'

180371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r130

Ensembl Gene

ENSMUSG00000095658

Gene Name

vomeronasal 2, receptor 130

Synonyms

Vmn2r-ps130

Accession Numbers

Essential gene?

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

Stock #

IGL01929

Quality Score

Status

Chromosome

Chromosomal Location

23280341-23296399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23295851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 674 (I674F)

Ref Sequence

ENSEMBL: ENSMUSP00000135186 (fasta)

Gene Model

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

AlphaFold

A0A140T8U3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175853
AA Change: I674F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135186
Gene: ENSMUSG00000095658
AA Change: I674F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,251,445 (GRCm39)	P467S	probably benign	Het
Areg	T	C	5: 91,292,312 (GRCm39)	I204T	probably benign	Het
Dnah3	A	T	7: 119,550,874 (GRCm39)	Y3137*	probably null	Het
Dnajc10	T	G	2: 80,158,420 (GRCm39)	C270W	probably damaging	Het
Epc1	A	G	18: 6,449,217 (GRCm39)	F427L	possibly damaging	Het
Fcgbp	A	T	7: 27,803,388 (GRCm39)	D1664V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm6686	G	A	17: 15,786,577 (GRCm39)		probably benign	Het
Grik4	C	A	9: 42,477,594 (GRCm39)		probably null	Het
H2-Oa	G	A	17: 34,313,056 (GRCm39)		probably null	Het
Iigp1c	A	G	18: 60,379,554 (GRCm39)	E363G	probably benign	Het
Il20ra	T	G	10: 19,635,019 (GRCm39)	L420R	probably benign	Het
Kcnk2	A	G	1: 189,072,227 (GRCm39)	S34P	probably damaging	Het
Klc4	A	G	17: 46,955,173 (GRCm39)		probably null	Het
Large1	T	C	8: 73,585,903 (GRCm39)	Y401C	probably damaging	Het
Lrrc59	T	C	11: 94,534,342 (GRCm39)	V300A	possibly damaging	Het
Myom2	T	A	8: 15,167,698 (GRCm39)	D1094E	probably damaging	Het
Nfrkb	T	A	9: 31,331,169 (GRCm39)	I1230N	possibly damaging	Het
Or55b3	A	G	7: 102,126,373 (GRCm39)	S235P	possibly damaging	Het
Prr14l	T	C	5: 32,985,587 (GRCm39)	T146A	probably benign	Het
Psmd5	A	G	2: 34,753,478 (GRCm39)	V221A	probably damaging	Het
Ptchd4	A	T	17: 42,814,213 (GRCm39)	T705S	probably benign	Het
Ptprm	G	A	17: 66,997,544 (GRCm39)	A1184V	probably damaging	Het
Rb1cc1	G	T	1: 6,310,383 (GRCm39)	K260N	possibly damaging	Het
Rbm28	T	A	6: 29,128,584 (GRCm39)	D46V	possibly damaging	Het
Sdk1	T	C	5: 141,938,785 (GRCm39)	Y403H	probably damaging	Het
Slco3a1	A	G	7: 73,968,353 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,231 (GRCm39)	K803*	probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r82	A	T	10: 79,214,545 (GRCm39)	D176V	probably damaging	Het
Wdr70	A	T	15: 7,950,115 (GRCm39)		probably null	Het
Xdh	A	T	17: 74,241,850 (GRCm39)	C150S	probably damaging	Het
Xpo5	G	T	17: 46,513,855 (GRCm39)	M3I	probably benign	Het

Other mutations in Vmn2r130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6580:Vmn2r130	UTSW	17	23,282,740 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-05-07