Mutagenetix > Incidental Mutation

Incidental Mutation 'R3915:Vmn1r76'

309592

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r76

Ensembl Gene

ENSMUSG00000115267

Gene Name

vomeronasal 1 receptor 76

Synonyms

V1rg4

MMRRC Submission

040913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R3915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11664238-11665212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11664496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 239 (S239R)

Ref Sequence

ENSEMBL: ENSMUSP00000055518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058772] [ENSMUST00000226300] [ENSMUST00000226947]

AlphaFold

F8VQ63

Predicted Effect

probably benign
Transcript: ENSMUST00000058772
AA Change: S239R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055518
Gene: ENSMUSG00000115267
AA Change: S239R

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:V1R	54	317	5.4e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226300
AA Change: S204R

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000226947
AA Change: S204R

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	G	A	5: 3,627,248 (GRCm39)	V75I	possibly damaging	Het
AA986860	A	G	1: 130,670,344 (GRCm39)	K189E	probably benign	Het
Abcf1	C	T	17: 36,270,402 (GRCm39)	R596H	possibly damaging	Het
Abtb3	C	A	10: 85,468,134 (GRCm39)	H810N	probably damaging	Het
Axl	T	C	7: 25,460,169 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,886,603 (GRCm39)	K644E	probably benign	Het
Btnl7-ps	T	A	17: 34,760,489 (GRCm39)		noncoding transcript	Het
Car8	A	T	4: 8,184,576 (GRCm39)		probably benign	Het
Ccdc62	C	T	5: 124,092,778 (GRCm39)	R588C	probably damaging	Het
Clasp2	T	G	9: 113,737,805 (GRCm39)	S374A	probably damaging	Het
Ctnnb1	A	G	9: 120,784,717 (GRCm39)	H503R	probably benign	Het
Cwf19l2	A	G	9: 3,456,776 (GRCm39)	H703R	probably damaging	Het
Efcab7	A	T	4: 99,735,375 (GRCm39)	Q133L	probably damaging	Het
Ehmt2	T	C	17: 35,122,443 (GRCm39)	S280P	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,420 (GRCm39)	T294S	probably benign	Het
Eomes	A	G	9: 118,310,341 (GRCm39)	M351V	probably benign	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Fam222b	C	G	11: 78,045,756 (GRCm39)	P439R	probably benign	Het
Gbp11	T	A	5: 105,478,978 (GRCm39)	K153N	probably damaging	Het
Golim4	T	C	3: 75,810,634 (GRCm39)	T174A	probably damaging	Het
Grid1	A	G	14: 35,242,684 (GRCm39)	Y679C	probably damaging	Het
Gvin-ps5	A	G	7: 105,929,445 (GRCm39)	S151P	probably benign	Het
Ikzf3	T	C	11: 98,381,412 (GRCm39)	D56G	probably damaging	Het
Kcnj16	A	G	11: 110,916,382 (GRCm39)	D348G	probably benign	Het
Kidins220	T	C	12: 25,103,957 (GRCm39)	L1319P	possibly damaging	Het
Lrp1b	T	A	2: 41,339,248 (GRCm39)	D751V	probably damaging	Het
Macc1	T	C	12: 119,410,551 (GRCm39)	C440R	probably benign	Het
Mbd2	T	C	18: 70,755,680 (GRCm39)	V382A	probably benign	Het
Or13a17	T	A	7: 140,270,888 (GRCm39)	D23E	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or6c68	G	A	10: 129,158,178 (GRCm39)	A229T	probably benign	Het
Pgs1	T	G	11: 117,910,472 (GRCm39)	S528A	probably benign	Het
Pitpnm3	T	C	11: 72,003,110 (GRCm39)	T67A	probably damaging	Het
Pnliprp2	T	G	19: 58,748,794 (GRCm39)	V33G	probably damaging	Het
Ptn	T	C	6: 36,720,282 (GRCm39)	N90S	probably damaging	Het
Ptprt	A	T	2: 161,397,475 (GRCm39)		probably benign	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Rasgrp1	G	A	2: 117,119,122 (GRCm39)	S505F	probably damaging	Het
Sesn1	G	A	10: 41,770,886 (GRCm39)	R139H	probably benign	Het
Slc17a7	T	A	7: 44,818,144 (GRCm39)	L23Q	probably damaging	Het
Slc30a10	G	T	1: 185,187,333 (GRCm39)	E25*	probably null	Het
Smco1	A	G	16: 32,092,583 (GRCm39)	I85V	probably benign	Het
Zc3h7a	A	T	16: 10,974,074 (GRCm39)	V237D	possibly damaging	Het

Other mutations in Vmn1r76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Vmn1r76	APN	7	11,664,309 (GRCm39)	missense	possibly damaging	0.50
IGL01353:Vmn1r76	APN	7	11,664,737 (GRCm39)	missense	probably damaging	0.98
IGL02105:Vmn1r76	APN	7	11,664,417 (GRCm39)	missense	possibly damaging	0.46
R0032:Vmn1r76	UTSW	7	11,665,194 (GRCm39)	missense	probably benign
R0879:Vmn1r76	UTSW	7	11,664,662 (GRCm39)	missense	probably benign	0.00
R1201:Vmn1r76	UTSW	7	11,664,252 (GRCm39)	missense	probably benign	0.38
R1966:Vmn1r76	UTSW	7	11,664,441 (GRCm39)	missense	probably damaging	1.00
R3030:Vmn1r76	UTSW	7	11,664,402 (GRCm39)	missense	probably damaging	1.00
R4295:Vmn1r76	UTSW	7	11,665,057 (GRCm39)	missense	probably benign	0.44
R5053:Vmn1r76	UTSW	7	11,664,241 (GRCm39)	splice site	probably null
R5450:Vmn1r76	UTSW	7	11,664,611 (GRCm39)	missense	probably damaging	1.00
R5568:Vmn1r76	UTSW	7	11,665,062 (GRCm39)	missense	probably benign	0.02
R6382:Vmn1r76	UTSW	7	11,664,426 (GRCm39)	missense	probably damaging	1.00
R7137:Vmn1r76	UTSW	7	11,664,612 (GRCm39)	missense	possibly damaging	0.94
R7704:Vmn1r76	UTSW	7	11,664,344 (GRCm39)	missense	probably benign	0.25
R8018:Vmn1r76	UTSW	7	11,664,810 (GRCm39)	missense	probably damaging	0.99
R8540:Vmn1r76	UTSW	7	11,664,897 (GRCm39)	missense	probably damaging	1.00
R9321:Vmn1r76	UTSW	7	11,665,094 (GRCm39)	missense	possibly damaging	0.78
R9393:Vmn1r76	UTSW	7	11,664,765 (GRCm39)	missense	probably benign	0.00
Z1176:Vmn1r76	UTSW	7	11,664,495 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- GGCCCTAGACTTCATGTTGCTG -3'
(R):5'- GTGTCAGGCCCTAGTTACAAC -3'

Sequencing Primer
(F):5'- GCCCTAGACTTCATGTTGCTGATAAG -3'
(R):5'- TGCAACTGCACTGTACTT -3'

Posted On

2015-04-17