Mutagenetix > Incidental Mutation

Incidental Mutation 'R2122:Vmn1r180'

229577

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r180

Ensembl Gene

ENSMUSG00000092473

Gene Name

vomeronasal 1 receptor 180

Synonyms

LOC232962, V1rd16

MMRRC Submission

040126-MU

Accession Numbers

Essential gene?

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

Stock #

R2122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23950632-23955691 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23953141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 243 (L243Q)

Ref Sequence

ENSEMBL: ENSMUSP00000134362 (fasta)

Gene Model

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

AlphaFold

B9EK86

Predicted Effect

probably damaging
Transcript: ENSMUST00000173816
AA Change: L243Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134362
Gene: ENSMUSG00000092473
AA Change: L243Q

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,519,961	G975V	probably damaging	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Actl10	G	A	2: 154,552,233	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Arhgef7	A	T	8: 11,728,256	N2I	possibly damaging	Het
Blvra	T	G	2: 127,086,897	S102A	probably damaging	Het
Btn1a1	A	G	13: 23,461,521	L226P	probably damaging	Het
C2cd4d	G	T	3: 94,363,618	E64*	probably null	Het
Ccna2	A	G	3: 36,568,726	V209A	probably damaging	Het
Cd55	T	A	1: 130,459,617	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,774,543	P46L	probably benign	Het
Cldn11	A	G	3: 31,163,151	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 104,293,023	R12G	possibly damaging	Het
Cog2	T	C	8: 124,528,985	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,654,957	F184V	unknown	Het
Col4a4	T	A	1: 82,456,871	D1406V	unknown	Het
Col6a1	T	C	10: 76,721,498	T207A	probably benign	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dcdc2a	T	G	13: 25,119,285	S266R	possibly damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,455,793	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,897,792	Y44*	probably null	Het
Ep400	A	T	5: 110,708,850		probably benign	Het
Exoc6b	A	G	6: 84,621,482	M779T	probably benign	Het
F13a1	T	A	13: 37,025,679	Y104F	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,389	D186G	probably benign	Het
Gm5773	G	A	3: 93,773,317	G99R	possibly damaging	Het
Grk1	A	T	8: 13,405,221	Y35F	probably benign	Het
Heatr1	T	C	13: 12,403,264	V359A	probably benign	Het
Hfm1	A	G	5: 106,896,255	S567P	probably damaging	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Kctd5	T	C	17: 24,055,966	T212A	probably benign	Het
Krtap5-5	A	T	7: 142,229,503	C137S	unknown	Het
Lrp2	T	C	2: 69,483,707	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Map1a	T	A	2: 121,299,446	Y248N	probably damaging	Het
Mdc1	C	T	17: 35,847,943	A405V	probably benign	Het
Mfsd4b1	T	C	10: 40,002,651	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Myh11	T	C	16: 14,218,004	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,412,405	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791	K254R	probably damaging	Het
Obsl1	C	T	1: 75,493,883	R1043H	probably benign	Het
Olfr17	A	T	7: 107,098,109	I215F	probably damaging	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Phldb2	T	A	16: 45,762,941	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,875	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Pum1	C	A	4: 130,669,270	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reg3a	T	C	6: 78,381,136	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,713,718	S800G	probably damaging	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
Rnf31	A	G	14: 55,596,197	D554G	probably damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sacs	A	T	14: 61,212,316	Q3937L	probably damaging	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,199,819	I34S	possibly damaging	Het
Slc25a30	A	G	14: 75,770,218	S116P	possibly damaging	Het
Speer4c	T	A	5: 15,714,117	D29V	possibly damaging	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Susd3	A	G	13: 49,231,150	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,895,949	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tfpt	C	T	7: 3,628,931	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Tnfsf9	A	T	17: 57,107,316		probably null	Het
Ube3c	T	C	5: 29,619,606	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,201,013	S126Y	possibly damaging	Het
Vmn2r15	A	C	5: 109,286,456	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,815,394	D560G	possibly damaging	Het
Wdr11	G	A	7: 129,631,766	C1028Y	probably damaging	Het
Zfp318	A	G	17: 46,413,371	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,519,483	Y789*	probably null	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
IGL03277:Vmn1r180	APN	7	23953285	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GTTCCACTTCTGGATTCAGTGTAG -3'
(R):5'- TCTGGCTTTTAACAGTTGAAGAGC -3'

Sequencing Primer
(F):5'- CACTTCTGGATTCAGTGTAGGCATTG -3'
(R):5'- CATAGAACAAGGATTCTTAGGGTCTC -3'

Posted On

2014-09-17