Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03124:Vmn1r57'

410080

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r57

Ensembl Gene

ENSMUSG00000091652

Gene Name

vomeronasal 1 receptor 57

Synonyms

Gm7519

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03124

Quality Score

Status

Chromosome

Chromosomal Location

5223477-5224409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5224021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 182 (H182L)

Ref Sequence

ENSEMBL: ENSMUSP00000153848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170780] [ENSMUST00000227798] [ENSMUST00000228062]

AlphaFold

K7N731

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170780
AA Change: H182L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131917
Gene: ENSMUSG00000091652
AA Change: H182L

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	290	1.7e-12	PFAM
Pfam:7tm_1	20	279	1.8e-6	PFAM
Pfam:V1R	32	289	1.1e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227798
AA Change: H182L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227864

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228062
AA Change: H182L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,268,449 (GRCm39)		probably benign	Het
4931414P19Rik	A	G	14: 54,832,596 (GRCm39)	V193A	probably benign	Het
Acap3	T	C	4: 155,989,490 (GRCm39)	S645P	probably benign	Het
Alms1	A	G	6: 85,655,401 (GRCm39)	I3316V	probably benign	Het
Apc	T	G	18: 34,433,038 (GRCm39)	H424Q	probably damaging	Het
Camsap2	A	T	1: 136,202,537 (GRCm39)		probably null	Het
Car13	C	T	3: 14,722,000 (GRCm39)	P182L	possibly damaging	Het
Ccdc87	T	G	19: 4,891,082 (GRCm39)	S525A	probably damaging	Het
Ces1f	T	C	8: 94,002,012 (GRCm39)	N39D	probably benign	Het
Cyp2j13	C	A	4: 95,950,159 (GRCm39)	A281S	possibly damaging	Het
Cyp4f15	G	A	17: 32,904,786 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,035,701 (GRCm39)	R3118S	possibly damaging	Het
Glg1	C	T	8: 111,926,803 (GRCm39)	V171M	probably damaging	Het
Hivep1	G	T	13: 42,312,380 (GRCm39)	G1540V	possibly damaging	Het
Ighm	T	C	12: 113,385,258 (GRCm39)	D234G	unknown	Het
Igsf10	T	C	3: 59,227,086 (GRCm39)	T2196A	probably benign	Het
Kctd19	T	A	8: 106,113,702 (GRCm39)	Q657L	possibly damaging	Het
Klhl40	T	A	9: 121,609,751 (GRCm39)	I512N	probably damaging	Het
Lima1	A	T	15: 99,694,615 (GRCm39)		probably benign	Het
Map2k4	A	C	11: 65,581,617 (GRCm39)	I365S	probably damaging	Het
Mast4	T	A	13: 102,874,753 (GRCm39)	K1346N	probably damaging	Het
Met	T	A	6: 17,492,077 (GRCm39)	F280I	probably benign	Het
Ncapg	A	G	5: 45,828,551 (GRCm39)	T101A	probably benign	Het
Nup214	T	C	2: 31,886,452 (GRCm39)	F605L	probably benign	Het
Odr4	A	G	1: 150,262,176 (GRCm39)	V88A	probably benign	Het
Or51k1	G	T	7: 103,661,001 (GRCm39)	Q303K	probably benign	Het
Or5ae2	T	A	7: 84,505,931 (GRCm39)	M118K	probably damaging	Het
Or7e177	T	A	9: 20,212,459 (GRCm39)	M322K	probably benign	Het
Pck2	C	T	14: 55,782,790 (GRCm39)	T373I	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pecr	A	C	1: 72,316,499 (GRCm39)	S69A	probably benign	Het
Pgap6	G	A	17: 26,335,808 (GRCm39)	R65Q	probably damaging	Het
Pitpnb	A	G	5: 111,478,696 (GRCm39)	E6G	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Plbd2	A	T	5: 120,631,142 (GRCm39)	F212I	possibly damaging	Het
Rfk	T	A	19: 17,375,959 (GRCm39)	H84Q	possibly damaging	Het
Scp2	T	A	4: 107,921,103 (GRCm39)	I36F	probably damaging	Het
Slc9a4	A	G	1: 40,619,895 (GRCm39)	T74A	probably damaging	Het
Spmip6	T	C	4: 41,507,287 (GRCm39)	N170D	possibly damaging	Het
St6galnac1	G	A	11: 116,666,125 (GRCm39)	A35V	probably benign	Het
Tasor2	A	T	13: 3,624,704 (GRCm39)	Y1749N	probably benign	Het
Trav17	T	C	14: 54,044,106 (GRCm39)	V4A	probably benign	Het
Vwa8	A	T	14: 79,296,255 (GRCm39)		probably benign	Het
Zgpat	A	G	2: 181,007,973 (GRCm39)	Y170C	probably benign	Het

Other mutations in Vmn1r57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01770:Vmn1r57	APN	7	5,223,667 (GRCm39)	missense	possibly damaging	0.61
R1779:Vmn1r57	UTSW	7	5,223,576 (GRCm39)	missense	possibly damaging	0.89
R3025:Vmn1r57	UTSW	7	5,223,714 (GRCm39)	nonsense	probably null
R3917:Vmn1r57	UTSW	7	5,223,630 (GRCm39)	missense	probably damaging	1.00
R4093:Vmn1r57	UTSW	7	5,223,856 (GRCm39)	missense	possibly damaging	0.80
R4552:Vmn1r57	UTSW	7	5,223,667 (GRCm39)	missense	possibly damaging	0.61
R4628:Vmn1r57	UTSW	7	5,223,972 (GRCm39)	missense	probably damaging	1.00
R5186:Vmn1r57	UTSW	7	5,224,107 (GRCm39)	missense	probably benign	0.08
R5290:Vmn1r57	UTSW	7	5,224,319 (GRCm39)	missense	probably damaging	1.00
R5559:Vmn1r57	UTSW	7	5,223,898 (GRCm39)	missense	probably damaging	1.00
R6372:Vmn1r57	UTSW	7	5,223,826 (GRCm39)	missense	possibly damaging	0.61
R7105:Vmn1r57	UTSW	7	5,223,499 (GRCm39)	missense	probably damaging	1.00
R7220:Vmn1r57	UTSW	7	5,223,559 (GRCm39)	missense	probably null	1.00
R7835:Vmn1r57	UTSW	7	5,224,138 (GRCm39)	missense	probably benign	0.44
R7872:Vmn1r57	UTSW	7	5,223,613 (GRCm39)	missense	possibly damaging	0.48
R8310:Vmn1r57	UTSW	7	5,224,024 (GRCm39)	missense	probably damaging	1.00
R9679:Vmn1r57	UTSW	7	5,224,230 (GRCm39)	missense	probably benign	0.09
R9681:Vmn1r57	UTSW	7	5,224,069 (GRCm39)	missense	probably damaging	0.99
X0064:Vmn1r57	UTSW	7	5,223,760 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02