Mutagenetix > Incidental Mutations

Incidental Mutation 'R0491:Vmn1r200'

42492

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r200

Ensembl Gene

ENSMUSG00000101073

Gene Name

vomeronasal 1 receptor 200

Synonyms

V1rh3

MMRRC Submission

038689-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R0491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22390373-22400052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22395191 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 46 (I46L)

Ref Sequence

ENSEMBL: ENSMUSP00000153883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074324] [ENSMUST00000226157] [ENSMUST00000227326] [ENSMUST00000228726]

Predicted Effect

probably benign
Transcript: ENSMUST00000074324
AA Change: I55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073934
Gene: ENSMUSG00000101073
AA Change: I55L

Domain	Start	End	E-Value	Type
Pfam:V1R	24	307	5.5e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091731
AA Change: I55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000089325
Gene: ENSMUSG00000069291
AA Change: I55L

Domain	Start	End	E-Value	Type
Pfam:TAS2R	2	291	1.3e-8	PFAM
Pfam:V1R	34	297	3.8e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226157
AA Change: I55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226901

Predicted Effect

probably benign
Transcript: ENSMUST00000227326
AA Change: I46L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000228726
AA Change: I55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,182,243	S356T	probably damaging	Het
Abca13	T	C	11: 9,298,235	F2661L	probably benign	Het
Acadsb	A	G	7: 131,430,107	D224G	probably benign	Het
Acsm1	A	G	7: 119,640,697	H288R	probably damaging	Het
Adamts2	A	G	11: 50,776,630	D465G	probably damaging	Het
Akap9	A	T	5: 3,972,851		probably benign	Het
Alms1	A	G	6: 85,702,600	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,719,241	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,179,987		probably benign	Het
Atf6	A	G	1: 170,787,344		probably null	Het
Cacna1s	T	A	1: 136,089,008		probably benign	Het
Clcn1	T	C	6: 42,310,581	F740L	probably benign	Het
Clec12a	T	A	6: 129,364,053	D265E	probably benign	Het
Clic3	T	A	2: 25,457,785		probably benign	Het
Cntnap3	T	G	13: 64,762,045	T749P	probably benign	Het
Col11a2	T	A	17: 34,042,212	D45E	probably null	Het
Crxos	T	A	7: 15,898,535	S89T	probably benign	Het
Cxcr1	G	T	1: 74,192,309	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,371,327	N262K	possibly damaging	Het
Dpy19l2	T	C	9: 24,696,028	R46G	probably benign	Het
Dpysl2	A	T	14: 66,807,962	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,527,423		probably benign	Het
Eppin	T	A	2: 164,589,412	E98V	possibly damaging	Het
Fancm	A	T	12: 65,106,061	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,435,742	I75T	probably damaging	Het
Fmn2	A	G	1: 174,581,959	H586R	unknown	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Haus6	A	C	4: 86,602,846	V185G	possibly damaging	Het
Herc2	T	A	7: 56,122,366	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,166,310	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,276,895		probably benign	Het
Kbtbd2	G	A	6: 56,780,389	R121*	probably null	Het
Lgr4	C	T	2: 110,007,281		probably benign	Het
Lrrc55	T	C	2: 85,191,920	E309G	probably damaging	Het
Mertk	T	C	2: 128,793,107		probably null	Het
Micu3	A	G	8: 40,366,253		probably benign	Het
Mmp11	G	A	10: 75,926,758	A287V	probably benign	Het
Mpzl2	A	G	9: 45,042,741	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,862,015	R2899S	probably benign	Het
Myo1b	A	G	1: 51,755,698	Y1078H	probably benign	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Ncapd3	T	G	9: 27,057,883	V611G	probably damaging	Het
Ntpcr	C	T	8: 125,737,354	R73*	probably null	Het
Olfr1225	A	T	2: 89,170,360	V284E	probably benign	Het
Olfr1475	G	A	19: 13,479,493	A235V	probably damaging	Het
Osbp2	A	G	11: 3,714,709	F88S	probably damaging	Het
Pkn3	A	T	2: 30,089,877	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,394,776	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,439,291	T408A	probably benign	Het
Prss41	T	C	17: 23,842,503	T105A	possibly damaging	Het
Psme1	G	T	14: 55,579,921		probably benign	Het
Ptprq	A	T	10: 107,608,175	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,992,222	D470G	probably damaging	Het
Scarb1	A	G	5: 125,298,731		probably benign	Het
Slc25a54	G	A	3: 109,102,796	A204T	probably damaging	Het
Spink10	T	C	18: 62,659,965	C67R	probably damaging	Het
St5	T	A	7: 109,557,204	Q113L	probably benign	Het
Tmtc1	A	T	6: 148,412,640		probably null	Het
Tprkb	A	G	6: 85,924,464	D28G	probably benign	Het
Ttll13	A	G	7: 80,260,350	H747R	probably benign	Het
Usp24	A	G	4: 106,402,105	S1608G	probably benign	Het
Utp20	A	T	10: 88,760,912	F2115L	probably damaging	Het
Zdhhc8	A	T	16: 18,228,390	M103K	probably damaging	Het
Zfp595	C	T	13: 67,317,305	G298E	probably damaging	Het
Zfp738	T	G	13: 67,670,021	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,465,202	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,618,334	D80Y	probably damaging	Het

Other mutations in Vmn1r200

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Vmn1r200	APN	13	22395723	missense	probably damaging	1.00
IGL01123:Vmn1r200	APN	13	22395401	missense	probably benign	0.01
IGL01943:Vmn1r200	APN	13	22395927	missense	possibly damaging	0.77
IGL02691:Vmn1r200	APN	13	22395258	missense	probably damaging	1.00
R0507:Vmn1r200	UTSW	13	22395548	missense	probably benign	0.00
R0530:Vmn1r200	UTSW	13	22395497	missense	probably damaging	1.00
R1033:Vmn1r200	UTSW	13	22395890	missense	probably damaging	1.00
R1054:Vmn1r200	UTSW	13	22395454	missense	probably damaging	1.00
R1714:Vmn1r200	UTSW	13	22395470	missense	possibly damaging	0.96
R1920:Vmn1r200	UTSW	13	22395493	missense	probably damaging	1.00
R2118:Vmn1r200	UTSW	13	22395183	missense	probably damaging	1.00
R3784:Vmn1r200	UTSW	13	22395855	missense	possibly damaging	0.82
R4827:Vmn1r200	UTSW	13	22395095	missense	probably benign	0.00
R5285:Vmn1r200	UTSW	13	22395287	missense	possibly damaging	0.51
R5299:Vmn1r200	UTSW	13	22395775	nonsense	probably null
R6127:Vmn1r200	UTSW	13	22395203	missense	probably benign	0.07
R7167:Vmn1r200	UTSW	13	22395317	missense	possibly damaging	0.91
R7854:Vmn1r200	UTSW	13	22395839	missense	probably benign	0.08
R7937:Vmn1r200	UTSW	13	22395839	missense	probably benign	0.08
R8061:Vmn1r200	UTSW	13	22395283	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTGTGCCCATGAGTGCTTTG -3'
(R):5'- ATGCAGACTTTGTCCTGAGCCTCC -3'

Sequencing Primer
(F):5'- GCTCCAAAAAATGCTACTGTGC -3'
(R):5'- ATCCAGATGCTCTGGGACTG -3'

Posted On

2013-05-23