Mutagenetix > Incidental Mutation

Incidental Mutation 'R0097:Vmn1r228'

41177

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r228

Ensembl Gene

ENSMUSG00000060245

Gene Name

vomeronasal 1 receptor 228

Synonyms

V1re3

MMRRC Submission

038383-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20776363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 298 (M298V)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072410]

AlphaFold

Q8R2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000072410
AA Change: M298V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: M298V

Domain	Start	End	E-Value	Type
Pfam:TAS2R	32	317	2.6e-11	PFAM
Pfam:7tm_1	53	316	2.6e-9	PFAM
Pfam:V1R	63	321	1.3e-26	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,412,480	I353K	probably benign	Het
5830473C10Rik	T	A	5: 90,584,936	S535R	probably benign	Het
Arfgap2	T	A	2: 91,274,815	V422E	probably benign	Het
Baz1b	T	C	5: 135,198,259	S105P	probably benign	Het
Bbs10	T	C	10: 111,298,844	V41A	probably damaging	Het
Cacna1s	T	A	1: 136,100,622	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,146,052	A180V	probably benign	Het
Cldnd1	A	G	16: 58,729,715	N87S	possibly damaging	Het
Cyp2c54	T	A	19: 40,047,658		probably benign	Het
Cyp2c54	G	T	19: 40,047,659		probably benign	Het
Dab2ip	G	A	2: 35,718,916	V629M	possibly damaging	Het
Ddx41	A	T	13: 55,535,878		probably benign	Het
Dmrta1	A	T	4: 89,688,872	R188S	probably benign	Het
Eml3	T	A	19: 8,936,651	F465L	probably benign	Het
Gm13128	T	C	4: 144,331,287	S155P	probably benign	Het
Gm9938	T	A	19: 23,724,464		probably benign	Het
Gpr87	G	A	3: 59,179,085	T333I	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Llgl2	T	A	11: 115,844,497	Y59*	probably null	Het
Lzic	A	G	4: 149,488,076	E41G	probably damaging	Het
Mprip	T	A	11: 59,758,491	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,348,376	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,155,762	M3121K	probably damaging	Het
Myocd	T	A	11: 65,179,014	M667L	possibly damaging	Het
Narfl	T	C	17: 25,777,002	S67P	possibly damaging	Het
Ncam2	A	G	16: 81,517,537	D467G	probably damaging	Het
Neb	T	C	2: 52,204,894	N4882S	probably damaging	Het
Neu2	A	G	1: 87,597,466	D391G	probably benign	Het
Nol4	C	A	18: 22,719,141	A456S	probably benign	Het
Olfr1025-ps1	T	C	2: 85,918,840	V305A	probably benign	Het
Padi6	C	T	4: 140,730,957	V513M	probably benign	Het
Pign	G	A	1: 105,587,976		probably benign	Het
Plpp2	T	C	10: 79,530,537	E91G	possibly damaging	Het
Pnp	T	A	14: 50,951,416	V222D	probably damaging	Het
Pnp2	C	T	14: 50,963,501	R148C	probably benign	Het
Prss38	A	G	11: 59,375,608	L8S	possibly damaging	Het
Rab5b	A	T	10: 128,682,940	F108I	probably damaging	Het
Rbbp5	T	A	1: 132,490,489	H15Q	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Rsl1	A	C	13: 67,181,902	Q138P	probably damaging	Het
Ryr3	T	C	2: 112,800,055	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,771,456	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,403,978	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,032,860	I237F	probably damaging	Het
Svs3b	T	C	2: 164,256,239	E54G	probably damaging	Het
T	A	T	17: 8,439,901		probably benign	Het
Tenm4	A	T	7: 96,892,926	D1882V	probably damaging	Het
Tgfbr1	T	A	4: 47,403,451	L283*	probably null	Het
Tppp3	C	T	8: 105,467,922	A149T	probably benign	Het
Ubp1	T	C	9: 113,973,507		probably benign	Het
Ushbp1	C	T	8: 71,390,713	C314Y	probably damaging	Het
Vav2	A	T	2: 27,299,362		probably benign	Het
Zmpste24	A	T	4: 121,095,543		probably benign	Het

Other mutations in Vmn1r228

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Vmn1r228	APN	17	20776512	missense	probably benign	0.07
IGL03275:Vmn1r228	APN	17	20776842	missense	probably damaging	1.00
PIT4498001:Vmn1r228	UTSW	17	20776510	missense	probably benign	0.00
R0097:Vmn1r228	UTSW	17	20776363	missense	probably benign	0.05
R0270:Vmn1r228	UTSW	17	20776596	missense	possibly damaging	0.60
R0279:Vmn1r228	UTSW	17	20776375	missense	probably benign	0.02
R1544:Vmn1r228	UTSW	17	20777023	missense	probably benign	0.00
R1695:Vmn1r228	UTSW	17	20776298	missense	possibly damaging	0.49
R2086:Vmn1r228	UTSW	17	20777193	missense	possibly damaging	0.71
R2275:Vmn1r228	UTSW	17	20776545	missense	probably damaging	1.00
R2965:Vmn1r228	UTSW	17	20776347	missense	probably damaging	0.99
R4425:Vmn1r228	UTSW	17	20776599	missense	probably damaging	1.00
R4447:Vmn1r228	UTSW	17	20777107	missense	probably damaging	0.96
R5031:Vmn1r228	UTSW	17	20776681	nonsense	probably null
R6345:Vmn1r228	UTSW	17	20776882	missense	probably damaging	1.00
R7064:Vmn1r228	UTSW	17	20777023	missense	probably benign	0.00
R7880:Vmn1r228	UTSW	17	20776410	missense	probably damaging	1.00
R8000:Vmn1r228	UTSW	17	20776965	missense	possibly damaging	0.88
R8290:Vmn1r228	UTSW	17	20776462	missense	probably benign	0.09
R9022:Vmn1r228	UTSW	17	20776516	missense	probably damaging	1.00
R9027:Vmn1r228	UTSW	17	20777160	missense	probably benign	0.01
R9291:Vmn1r228	UTSW	17	20776761	missense	probably benign
R9492:Vmn1r228	UTSW	17	20776600	missense	probably damaging	1.00
R9618:Vmn1r228	UTSW	17	20776783	missense	probably benign	0.00
X0018:Vmn1r228	UTSW	17	20776701	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CCTCACGGTAGGAAGAGAGAACTCA -3'
(R):5'- AGTTTCCAGCACCTTCATGATTGTCA -3'

Sequencing Primer
(F):5'- gcacagtttattgagctaaaaacc -3'
(R):5'- CATACTTTACAGACACAAGAAAAGGG -3'

Posted On

2013-05-23