Mutagenetix > Incidental Mutation

Incidental Mutation 'R5865:Vmn1r193'

454140

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r193

Ensembl Gene

ENSMUSG00000046932

Gene Name

vomeronasal 1 receptor 193

Synonyms

V1ri9

MMRRC Submission

044074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22403031-22403990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22403395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 199 (L199P)

Ref Sequence

ENSEMBL: ENSMUSP00000154019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057516] [ENSMUST00000227457] [ENSMUST00000227562] [ENSMUST00000228303]

AlphaFold

Q8R258

Predicted Effect

probably damaging
Transcript: ENSMUST00000057516
AA Change: L199P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058480
Gene: ENSMUSG00000046932
AA Change: L199P

Domain	Start	End	E-Value	Type
Pfam:TAS2R	23	317	4.4e-8	PFAM
Pfam:V1R	52	315	5.1e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227457
AA Change: L199P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227562
AA Change: L199P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228303
AA Change: L199P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.7%
20x: 88.7%

Validation Efficiency

91% (59/65)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	A	3: 32,766,277 (GRCm39)	V48M	possibly damaging	Het
Adamts2	T	G	11: 50,694,781 (GRCm39)	Y1189*	probably null	Het
Bpifb9a	T	C	2: 154,108,756 (GRCm39)	I419T	probably benign	Het
Ccbe1	A	T	18: 66,216,222 (GRCm39)	I167N	possibly damaging	Het
Ccdc187	T	C	2: 26,183,380 (GRCm39)	T207A	probably benign	Het
Cd300lf	G	A	11: 115,017,126 (GRCm39)	L66F	probably damaging	Het
Cenpk	A	G	13: 104,372,702 (GRCm39)	*92W	probably null	Het
Col12a1	A	T	9: 79,511,760 (GRCm39)	S2950R	probably benign	Het
Dnah3	T	C	7: 119,574,331 (GRCm39)	T2154A	probably benign	Het
Ebna1bp2	A	T	4: 118,478,332 (GRCm39)		probably benign	Het
Elac2	G	T	11: 64,888,783 (GRCm39)	C532F	probably benign	Het
Fam171a1	T	A	2: 3,226,374 (GRCm39)	D377E	probably benign	Het
Haus6	A	G	4: 86,504,594 (GRCm39)	C466R	possibly damaging	Het
Il4ra	T	C	7: 125,174,348 (GRCm39)	S297P	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Kank4	T	C	4: 98,659,630 (GRCm39)	Y816C	possibly damaging	Het
Kcnc4	A	T	3: 107,365,515 (GRCm39)		probably null	Het
Kif21b	C	T	1: 136,078,875 (GRCm39)	R408*	probably null	Het
Lrrc31	A	G	3: 30,733,289 (GRCm39)	V475A	probably benign	Het
Map2k1	C	T	9: 64,098,548 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,592 (GRCm39)	N271K	possibly damaging	Het
Ms4a14	A	G	19: 11,281,581 (GRCm39)	S326P	possibly damaging	Het
Muc6	T	A	7: 141,236,769 (GRCm39)	I358F	probably damaging	Het
Myo5c	A	G	9: 75,204,770 (GRCm39)	D1541G	probably damaging	Het
Myof	T	C	19: 37,899,382 (GRCm39)	S1793G	probably damaging	Het
Nfkb1	T	A	3: 135,309,541 (GRCm39)	T518S	probably damaging	Het
Nphs1	T	A	7: 30,173,810 (GRCm39)	I989N	probably damaging	Het
Or5m12	T	C	2: 85,734,865 (GRCm39)	T178A	probably benign	Het
Pcdha5	T	C	18: 37,094,474 (GRCm39)	F328L	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Peg10	A	G	6: 4,754,375 (GRCm39)	N52S	probably damaging	Het
Phf10	A	C	17: 15,175,272 (GRCm39)		probably benign	Het
Pip4p1	A	G	14: 51,166,332 (GRCm39)		probably benign	Het
Psme4	T	C	11: 30,741,993 (GRCm39)	I152T	possibly damaging	Het
Ptpn18	T	A	1: 34,510,644 (GRCm39)		probably benign	Het
Rufy4	A	T	1: 74,185,914 (GRCm39)	Y527F	probably damaging	Het
Snx32	T	C	19: 5,546,382 (GRCm39)	M293V	probably benign	Het
Sorl1	A	T	9: 41,894,330 (GRCm39)	L1827M	possibly damaging	Het
Sstr5	T	A	17: 25,710,218 (GRCm39)	D337V	probably benign	Het
Tcaf3	A	G	6: 42,573,631 (GRCm39)	F194L	probably benign	Het
Tcerg1	T	A	18: 42,669,413 (GRCm39)	W459R	probably damaging	Het
Tet2	T	A	3: 133,192,860 (GRCm39)	I525L	probably benign	Het
Trim43b	C	T	9: 88,967,659 (GRCm39)	V325I	probably benign	Het
Txndc11	A	T	16: 10,940,552 (GRCm39)	I180K	probably damaging	Het
Vmn2r110	A	G	17: 20,804,557 (GRCm39)	M121T	probably benign	Het
Zfhx4	G	C	3: 5,467,719 (GRCm39)	A2626P	probably damaging	Het
Zfp445	C	T	9: 122,682,552 (GRCm39)	S463N	probably benign	Het
Zwilch	T	A	9: 64,080,190 (GRCm39)		probably null	Het

Other mutations in Vmn1r193

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01642:Vmn1r193	APN	13	22,403,794 (GRCm39)	missense	probably damaging	1.00
IGL01862:Vmn1r193	APN	13	22,403,984 (GRCm39)	missense	probably benign	0.00
IGL01939:Vmn1r193	APN	13	22,403,893 (GRCm39)	nonsense	probably null
IGL03394:Vmn1r193	APN	13	22,403,939 (GRCm39)	missense	probably benign	0.02
R0158:Vmn1r193	UTSW	13	22,403,798 (GRCm39)	missense	probably damaging	1.00
R1830:Vmn1r193	UTSW	13	22,403,561 (GRCm39)	missense	probably benign
R2035:Vmn1r193	UTSW	13	22,403,732 (GRCm39)	missense	probably benign	0.37
R4651:Vmn1r193	UTSW	13	22,403,695 (GRCm39)	missense	probably damaging	1.00
R4652:Vmn1r193	UTSW	13	22,403,695 (GRCm39)	missense	probably damaging	1.00
R5298:Vmn1r193	UTSW	13	22,403,725 (GRCm39)	missense	probably damaging	1.00
R6208:Vmn1r193	UTSW	13	22,403,138 (GRCm39)	missense	possibly damaging	0.57
R6958:Vmn1r193	UTSW	13	22,404,144 (GRCm39)	start gained	probably benign
R8095:Vmn1r193	UTSW	13	22,403,231 (GRCm39)	missense	possibly damaging	0.89
R8128:Vmn1r193	UTSW	13	22,403,113 (GRCm39)	missense	probably damaging	1.00
R8211:Vmn1r193	UTSW	13	22,403,286 (GRCm39)	nonsense	probably null
R8308:Vmn1r193	UTSW	13	22,403,146 (GRCm39)	missense	probably benign	0.00
R8889:Vmn1r193	UTSW	13	22,403,839 (GRCm39)	missense	probably benign	0.05
R8949:Vmn1r193	UTSW	13	22,403,920 (GRCm39)	missense	possibly damaging	0.89
R9138:Vmn1r193	UTSW	13	22,403,844 (GRCm39)	missense	probably damaging	0.99
R9364:Vmn1r193	UTSW	13	22,403,989 (GRCm39)	start codon destroyed	probably null	0.02
R9554:Vmn1r193	UTSW	13	22,403,989 (GRCm39)	start codon destroyed	probably null	0.02
V1662:Vmn1r193	UTSW	13	22,403,245 (GRCm39)	missense	possibly damaging	0.94
Z1177:Vmn1r193	UTSW	13	22,403,626 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTGGAACCTGTGTATAAGG -3'
(R):5'- ACCACATGGCATGTTCTTGTC -3'

Sequencing Primer
(F):5'- TCATGAGAGTGAGAACCCTCTGTG -3'
(R):5'- ACATGGCATGTTCTTGTCTTTCTC -3'

Posted On

2017-02-10