Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03230:Vmn1r49'

413838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r49

Ensembl Gene

ENSMUSG00000095932

Gene Name

vomeronasal 1, receptor 49

Synonyms

V1rb2, VRi2, V1r5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL03230

Quality Score

Status

Chromosome

Chromosomal Location

90049068-90050000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90049650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 117 (R117S)

Ref Sequence

ENSEMBL: ENSMUSP00000154456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071865] [ENSMUST00000203791] [ENSMUST00000226368]

AlphaFold

Q9WUF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000071865
AA Change: R117S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071762
Gene: ENSMUSG00000095932
AA Change: R117S

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	5e-165	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203791
AA Change: R117S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145107
Gene: ENSMUSG00000095932
AA Change: R117S

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	5e-165	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226368
AA Change: R117S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a non-functional knock-in allele display abnormal patterns of axonal projections in the accessory olfactory bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,244,313 (GRCm39)	Q2059K	probably benign	Het
Abcc1	A	T	16: 14,275,811 (GRCm39)	T902S	probably benign	Het
Acly	A	T	11: 100,384,885 (GRCm39)	C623S	probably damaging	Het
Ak8	A	G	2: 28,599,935 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,918,065 (GRCm39)	D1811G	probably damaging	Het
Bms1	T	A	6: 118,395,522 (GRCm39)	K8N	possibly damaging	Het
Cdc25b	T	C	2: 131,030,060 (GRCm39)	F79L	probably benign	Het
Cdh13	T	A	8: 119,969,056 (GRCm39)	V471D	probably damaging	Het
Cnot4	T	C	6: 35,028,344 (GRCm39)	D424G	probably damaging	Het
Cyp2a12	A	T	7: 26,729,017 (GRCm39)	I70F	possibly damaging	Het
Cyp2c66	A	T	19: 39,172,302 (GRCm39)	R406W	possibly damaging	Het
Cyp2g1	C	A	7: 26,518,828 (GRCm39)	P408Q	probably damaging	Het
Defa26	A	G	8: 22,108,314 (GRCm39)	D39G	probably damaging	Het
Dnah1	A	T	14: 30,992,023 (GRCm39)	S3020T	probably damaging	Het
Dst	A	T	1: 34,223,133 (GRCm39)	K1119*	probably null	Het
Gm10110	A	C	14: 90,135,733 (GRCm39)		noncoding transcript	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Hpx	A	T	7: 105,248,519 (GRCm39)	I94N	probably benign	Het
Il23r	C	T	6: 67,400,948 (GRCm39)	A461T	probably benign	Het
Iqca1	A	G	1: 90,072,724 (GRCm39)	I52T	probably damaging	Het
Kif21b	T	A	1: 136,090,550 (GRCm39)	M1146K	probably benign	Het
Kifap3	C	A	1: 163,653,293 (GRCm39)	T293K	probably benign	Het
Luzp1	G	A	4: 136,270,189 (GRCm39)	S804N	probably benign	Het
Mcmdc2	C	T	1: 10,002,221 (GRCm39)		probably benign	Het
Mctp1	G	T	13: 76,972,976 (GRCm39)	A403S	possibly damaging	Het
Mtnr1a	T	C	8: 45,540,435 (GRCm39)	I132T	probably damaging	Het
Musk	T	A	4: 58,296,710 (GRCm39)	N103K	probably damaging	Het
Nipal2	T	A	15: 34,575,702 (GRCm39)	D352V	probably damaging	Het
Oas1a	T	A	5: 121,036,419 (GRCm39)	K336I	probably benign	Het
Oasl1	T	C	5: 115,075,115 (GRCm39)	S392P	probably damaging	Het
Or2ag17	A	G	7: 106,389,911 (GRCm39)	L99P	probably damaging	Het
Or3a1c	A	G	11: 74,046,099 (GRCm39)	T40A	probably benign	Het
Or4c117	A	G	2: 88,955,892 (GRCm39)	F61S	probably damaging	Het
Or4c120	A	T	2: 89,001,433 (GRCm39)	M41K	possibly damaging	Het
Or4c58	T	C	2: 89,674,457 (GRCm39)	T287A	probably benign	Het
Or5m8	A	T	2: 85,822,583 (GRCm39)	T141S	probably benign	Het
Pate3	T	G	9: 35,557,402 (GRCm39)	T85P	probably benign	Het
Piezo2	T	C	18: 63,174,791 (GRCm39)	N1988D	probably damaging	Het
Plcxd3	T	A	15: 4,546,272 (GRCm39)	I92N	probably damaging	Het
Ptprd	T	A	4: 75,968,654 (GRCm39)	R213*	probably null	Het
Skic3	T	A	13: 76,303,766 (GRCm39)		probably benign	Het
Slit1	T	C	19: 41,717,524 (GRCm39)	D80G	probably damaging	Het
Sorcs1	A	G	19: 50,230,531 (GRCm39)	V472A	probably damaging	Het
Trp63	T	A	16: 25,707,760 (GRCm39)	D485E	probably damaging	Het
Tsr1	T	C	11: 74,791,297 (GRCm39)	V292A	probably benign	Het
Ush2a	G	T	1: 188,198,390 (GRCm39)	A1485S	probably benign	Het
Vmn2r97	C	A	17: 19,149,668 (GRCm39)	P352H	probably benign	Het
Zxdc	C	T	6: 90,350,785 (GRCm39)	T412I	probably damaging	Het

Other mutations in Vmn1r49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Vmn1r49	APN	6	90,049,394 (GRCm39)	missense	probably damaging	0.99
IGL03308:Vmn1r49	APN	6	90,049,341 (GRCm39)	missense	possibly damaging	0.67
R0517:Vmn1r49	UTSW	6	90,049,720 (GRCm39)	missense	probably damaging	0.98
R0638:Vmn1r49	UTSW	6	90,049,648 (GRCm39)	missense	possibly damaging	0.95
R1498:Vmn1r49	UTSW	6	90,049,298 (GRCm39)	missense	probably damaging	1.00
R1649:Vmn1r49	UTSW	6	90,049,623 (GRCm39)	missense	possibly damaging	0.66
R1668:Vmn1r49	UTSW	6	90,049,764 (GRCm39)	missense	probably benign	0.07
R1816:Vmn1r49	UTSW	6	90,049,785 (GRCm39)	missense	possibly damaging	0.93
R2071:Vmn1r49	UTSW	6	90,049,184 (GRCm39)	missense	probably benign	0.00
R2155:Vmn1r49	UTSW	6	90,049,441 (GRCm39)	missense	probably damaging	0.99
R2274:Vmn1r49	UTSW	6	90,049,126 (GRCm39)	missense	probably benign	0.23
R4222:Vmn1r49	UTSW	6	90,049,228 (GRCm39)	missense	probably benign	0.06
R4614:Vmn1r49	UTSW	6	90,049,534 (GRCm39)	missense	probably benign	0.00
R4797:Vmn1r49	UTSW	6	90,049,612 (GRCm39)	missense	probably benign	0.13
R4978:Vmn1r49	UTSW	6	90,049,872 (GRCm39)	missense	probably benign	0.30
R5227:Vmn1r49	UTSW	6	90,049,753 (GRCm39)	missense	probably benign	0.00
R5959:Vmn1r49	UTSW	6	90,049,786 (GRCm39)	missense	probably damaging	1.00
R6741:Vmn1r49	UTSW	6	90,049,195 (GRCm39)	missense	probably benign	0.19
R6744:Vmn1r49	UTSW	6	90,049,184 (GRCm39)	missense	probably benign	0.00
R7173:Vmn1r49	UTSW	6	90,049,250 (GRCm39)	missense	possibly damaging	0.96
R7457:Vmn1r49	UTSW	6	90,049,534 (GRCm39)	missense	probably benign	0.00
R7573:Vmn1r49	UTSW	6	90,049,843 (GRCm39)	missense	probably benign	0.06
R8360:Vmn1r49	UTSW	6	90,049,991 (GRCm39)	missense	probably benign	0.06
R8399:Vmn1r49	UTSW	6	90,049,689 (GRCm39)	nonsense	probably null
R9560:Vmn1r49	UTSW	6	90,049,382 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02