Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03277:Vmn1r180'

415442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r180

Ensembl Gene

ENSMUSG00000092473

Gene Name

vomeronasal 1 receptor 180

Synonyms

LOC232962, V1rd16

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL03277

Quality Score

Status

Chromosome

Chromosomal Location

23950632-23955691 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23953285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 291 (I291N)

Ref Sequence

ENSEMBL: ENSMUSP00000134362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173816]

AlphaFold

B9EK86

Predicted Effect

probably damaging
Transcript: ENSMUST00000173816
AA Change: I291N

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

SMART Domains

Protein: ENSMUSP00000134362
Gene: ENSMUSG00000092473
AA Change: I291N

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	298	2.9e-15	PFAM
Pfam:7tm_1	31	286	6.7e-9	PFAM
Pfam:V1R	41	297	1.4e-17	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amt	A	G	9: 108,301,219	T342A	probably benign	Het
B3glct	T	C	5: 149,726,834	L134P	probably damaging	Het
Bms1	A	T	6: 118,405,122	M485K	probably benign	Het
Chd6	T	C	2: 160,983,061	N1226S	probably null	Het
Cpne2	T	C	8: 94,548,372	Y3H	probably benign	Het
Dmxl2	A	G	9: 54,404,220	V1739A	probably damaging	Het
Dnah7a	T	A	1: 53,630,322	T543S	probably benign	Het
Dock11	T	G	X: 36,013,950	V1000G	probably benign	Het
Ednrb	T	A	14: 103,843,299	N60Y	probably benign	Het
Eif3d	A	G	15: 77,959,649	M499T	possibly damaging	Het
Elmod1	G	A	9: 53,925,988	L178F	probably damaging	Het
Fam214a	G	A	9: 75,009,232	R371Q	probably damaging	Het
Hrh4	T	C	18: 13,015,883	S101P	probably damaging	Het
Ift172	A	G	5: 31,267,298	V684A	possibly damaging	Het
Mtx2	A	G	2: 74,868,404	T124A	probably damaging	Het
Nat3	T	A	8: 67,547,689	H73Q	probably benign	Het
Ndst2	A	G	14: 20,730,166	L2P	possibly damaging	Het
Nipsnap3a	G	T	4: 52,997,219	A162S	probably benign	Het
Olfr1030	T	C	2: 85,984,173	I111T	probably damaging	Het
Olfr47	T	G	6: 43,235,942	C111W	probably damaging	Het
Peg3	T	C	7: 6,711,674	D183G	probably damaging	Het
Prlr	A	G	15: 10,328,801	E454G	probably benign	Het
Prom1	G	A	5: 44,032,971	Q364*	probably null	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Sema5b	A	G	16: 35,651,312	D425G	probably damaging	Het
Slc16a7	A	T	10: 125,230,691	C360S	probably benign	Het
Slc38a7	T	A	8: 95,848,476	I59F	probably damaging	Het
Slc5a6	A	G	5: 31,038,028	C449R	possibly damaging	Het
Slc9b1	T	C	3: 135,390,508	Y357H	possibly damaging	Het
Snx17	A	T	5: 31,195,740		probably benign	Het
Stk32b	A	C	5: 37,628,976	M48R	probably damaging	Het
Tspan9	A	G	6: 127,967,075		probably null	Het
Tst	A	T	15: 78,405,321	N171K	probably damaging	Het
Vmn2r32	T	A	7: 7,474,252	D380V	probably benign	Het
Wdfy4	T	C	14: 33,068,904	T2189A	probably benign	Het
Zbtb20	A	G	16: 43,618,437	N640S	possibly damaging	Het
Zfp142	A	G	1: 74,571,034	S1098P	probably damaging	Het

Other mutations in Vmn1r180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Vmn1r180	APN	7	23952523	missense	probably benign	0.36
IGL01309:Vmn1r180	APN	7	23952999	missense	probably damaging	1.00
IGL01793:Vmn1r180	APN	7	23953243	missense	probably benign	0.00
IGL02653:Vmn1r180	APN	7	23953075	missense	probably damaging	1.00
IGL03352:Vmn1r180	APN	7	23952652	nonsense	probably null
R1298:Vmn1r180	UTSW	7	23953147	missense	possibly damaging	0.84
R1701:Vmn1r180	UTSW	7	23952970	missense	possibly damaging	0.84
R1702:Vmn1r180	UTSW	7	23952969	missense	possibly damaging	0.52
R2122:Vmn1r180	UTSW	7	23953141	missense	probably damaging	1.00
R4241:Vmn1r180	UTSW	7	23952873	missense	probably damaging	1.00
R5683:Vmn1r180	UTSW	7	23953210	missense	possibly damaging	0.58
R7241:Vmn1r180	UTSW	7	23952466	missense	probably damaging	0.96
R7522:Vmn1r180	UTSW	7	23953260	missense	probably damaging	1.00
R8749:Vmn1r180	UTSW	7	23952990	missense	probably damaging	1.00
R8991:Vmn1r180	UTSW	7	23952651	missense	probably benign	0.06
R9442:Vmn1r180	UTSW	7	23952195	start gained	probably benign

Posted On

2016-08-02