Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01833:Vmn1r48'

154829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r48

Ensembl Gene

ENSMUSG00000057592

Gene Name

vomeronasal 1 receptor 48

Synonyms

V1ra3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL01833

Quality Score

Status

Chromosome

Chromosomal Location

90012915-90013823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90013265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 187 (T187S)

Ref Sequence

ENSEMBL: ENSMUSP00000073121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073415]

AlphaFold

Q9EQ52

Predicted Effect

probably damaging
Transcript: ENSMUST00000073415
AA Change: T187S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073121
Gene: ENSMUSG00000057592
AA Change: T187S

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	5.5e-131	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,062 (GRCm39)	N190S	probably benign	Het
Adamts18	T	A	8: 114,469,728 (GRCm39)	Y658F	probably benign	Het
Camsap3	T	A	8: 3,658,508 (GRCm39)	L1151Q	probably damaging	Het
Casp14	T	A	10: 78,551,237 (GRCm39)	Y16F	probably damaging	Het
Clip2	A	T	5: 134,526,938 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,134,785 (GRCm39)		probably benign	Het
Cyb5r4	G	A	9: 86,941,505 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,827,874 (GRCm39)	N2329K	unknown	Het
Fam163a	T	A	1: 155,955,742 (GRCm39)	I17F	probably damaging	Het
Galnt1	T	A	18: 24,400,617 (GRCm39)	I241N	probably damaging	Het
Galnt14	T	G	17: 73,811,899 (GRCm39)	I441L	probably benign	Het
Gpr45	T	C	1: 43,071,402 (GRCm39)	L15P	probably benign	Het
Hivep1	A	T	13: 42,308,464 (GRCm39)	K235*	probably null	Het
Kcnip2	T	C	19: 45,782,746 (GRCm39)		probably null	Het
Kpna3	T	C	14: 61,607,894 (GRCm39)	N437S	possibly damaging	Het
Lmtk2	A	T	5: 144,112,753 (GRCm39)	R1158*	probably null	Het
Lpo	A	G	11: 87,698,159 (GRCm39)	V612A	possibly damaging	Het
Myh15	T	C	16: 48,934,421 (GRCm39)	C663R	probably damaging	Het
Nacad	G	A	11: 6,555,700 (GRCm39)	R17C	unknown	Het
Or7a35	A	T	10: 78,853,770 (GRCm39)	M205L	probably benign	Het
Pcsk2	A	G	2: 143,529,500 (GRCm39)	Q99R	possibly damaging	Het
Pkd1l2	T	C	8: 117,787,264 (GRCm39)	N593S	probably benign	Het
Plce1	G	A	19: 38,709,425 (GRCm39)	S1093N	probably damaging	Het
Prxl2b	G	T	4: 154,981,059 (GRCm39)		probably benign	Het
Rhpn2	T	A	7: 35,075,596 (GRCm39)	Y258N	probably benign	Het
Serpinb9d	T	C	13: 33,384,688 (GRCm39)	Y222H	probably damaging	Het
Shprh	T	C	10: 11,066,806 (GRCm39)	L1401P	probably damaging	Het
Slc5a7	A	G	17: 54,588,861 (GRCm39)	L262P	probably damaging	Het
Stat2	T	G	10: 128,117,045 (GRCm39)	F293V	probably benign	Het
Stpg4	T	A	17: 87,702,585 (GRCm39)		probably null	Het
Styk1	G	T	6: 131,279,329 (GRCm39)		probably benign	Het
Sult2a2	T	A	7: 13,468,721 (GRCm39)	D62E	probably damaging	Het
Sytl2	G	A	7: 90,045,745 (GRCm39)	V632M	probably damaging	Het
Themis	C	T	10: 28,658,307 (GRCm39)	Q445*	probably null	Het
Tmem225	A	T	9: 40,059,725 (GRCm39)	E35V	probably damaging	Het
Xpnpep1	A	G	19: 52,988,824 (GRCm39)	Y463H	probably damaging	Het

Other mutations in Vmn1r48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01749:Vmn1r48	APN	6	90,012,934 (GRCm39)	missense	possibly damaging	0.82
R0052:Vmn1r48	UTSW	6	90,013,246 (GRCm39)	missense	possibly damaging	0.59
R3160:Vmn1r48	UTSW	6	90,013,360 (GRCm39)	missense	probably benign
R3162:Vmn1r48	UTSW	6	90,013,360 (GRCm39)	missense	probably benign
R5262:Vmn1r48	UTSW	6	90,013,016 (GRCm39)	missense	probably benign	0.03
R5352:Vmn1r48	UTSW	6	90,013,129 (GRCm39)	missense	probably benign	0.03
R6901:Vmn1r48	UTSW	6	90,013,550 (GRCm39)	missense	possibly damaging	0.46
R7607:Vmn1r48	UTSW	6	90,012,962 (GRCm39)	missense	probably benign	0.01
R7877:Vmn1r48	UTSW	6	90,013,431 (GRCm39)	missense	probably benign	0.01
R8157:Vmn1r48	UTSW	6	90,012,994 (GRCm39)	missense	probably damaging	0.98
RF001:Vmn1r48	UTSW	6	90,013,186 (GRCm39)	missense	probably benign	0.01
Z1177:Vmn1r48	UTSW	6	90,013,256 (GRCm39)	missense	probably benign	0.22

Posted On

2014-02-04