Mutagenetix > Incidental Mutations

Incidental Mutation 'R4564:Vmn1r78'

343240

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r78

Ensembl Gene

ENSMUSG00000061602

Gene Name

vomeronasal 1 receptor 78

Synonyms

V1rg7

MMRRC Submission

041789-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12150257-12159959 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12152558 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 32 (Y32F)

Ref Sequence

ENSEMBL: ENSMUSP00000154797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078039] [ENSMUST00000228244] [ENSMUST00000228664]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078039
AA Change: Y32F

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

SMART Domains

Protein: ENSMUSP00000077186
Gene: ENSMUSG00000061602
AA Change: Y32F

Domain	Start	End	E-Value	Type
Pfam:TAS2R	3	304	5.7e-8	PFAM
Pfam:V1R	12	301	1.5e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209489

Predicted Effect

probably damaging
Transcript: ENSMUST00000228244
AA Change: Y32F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228664
AA Change: Y32F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad3a	C	T	4: 155,747,309		probably null	Het
Bach2	T	G	4: 32,563,338	S602A	probably damaging	Het
Ccl19	G	T	4: 42,756,295	S12R	probably damaging	Het
Cfap54	T	C	10: 92,839,540		probably benign	Het
Cndp1	T	A	18: 84,622,286	I265F	probably damaging	Het
Cnot3	G	A	7: 3,653,258	R181H	probably damaging	Het
Dicer1	T	A	12: 104,704,751	K1011*	probably null	Het
Dip2b	G	A	15: 100,157,258	W99*	probably null	Het
Fam129c	T	C	8: 71,605,060		probably benign	Het
Fpr-rs6	A	T	17: 20,182,906	Y64*	probably null	Het
Fubp1	C	A	3: 152,222,936	Y480*	probably null	Het
Gfra1	T	C	19: 58,239,250		probably null	Het
Gm10770	T	C	2: 150,178,911	T229A	probably benign	Het
Gm826	A	C	2: 160,311,993		probably benign	Het
Gpd2	G	A	2: 57,307,083	V217I	possibly damaging	Het
Hectd4	T	C	5: 121,350,431	I3595T	probably benign	Het
Lmln	A	G	16: 33,109,856	E561G	probably benign	Het
Lrrc71	T	A	3: 87,745,408		probably benign	Het
Man2a2	T	A	7: 80,368,838	Y91F	probably benign	Het
Map4k4	A	G	1: 39,988,975	T319A	probably damaging	Het
Mcm6	G	T	1: 128,343,459	H474Q	probably damaging	Het
Mn1	C	G	5: 111,420,667	N834K	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Npas2	A	G	1: 39,287,566	D44G	probably damaging	Het
Npc1	C	T	18: 12,191,732	G1235R	probably damaging	Het
Olfml2a	C	T	2: 38,960,294	T674I	probably benign	Het
Olfr1311	A	G	2: 112,021,767	L29P	possibly damaging	Het
Plxnb1	C	T	9: 109,113,420	A1779V	probably benign	Het
Ppil3	T	A	1: 58,431,322	D123V	probably damaging	Het
Prr23a3	A	G	9: 98,865,137	E48G	probably damaging	Het
Prr5l	T	C	2: 101,746,749	E110G	probably damaging	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
R3hdm1	C	T	1: 128,221,659	T839M	probably benign	Het
Rasgrf2	G	A	13: 91,885,654	Q544*	probably null	Het
Riok3	C	A	18: 12,148,879	R302S	probably damaging	Het
Rnf145	A	G	11: 44,548,808	K144E	probably benign	Het
Sin3b	A	C	8: 72,753,581	T904P	probably damaging	Het
Skint4	C	T	4: 112,119,869	T152M	probably damaging	Het
Slc22a2	A	G	17: 12,610,056	I350V	probably benign	Het
Slc6a11	G	T	6: 114,131,362	G29V	probably benign	Het
Speg	A	C	1: 75,391,834	H676P	probably damaging	Het
St6gal2	T	A	17: 55,482,647	H227Q	probably damaging	Het
Strn3	A	G	12: 51,633,621	S399P	probably benign	Het
Tbc1d1	A	G	5: 64,173,484	E2G	probably damaging	Het
Tecpr2	T	A	12: 110,954,785	M1264K	probably benign	Het
Tmem8	A	G	17: 26,117,863	R252G	possibly damaging	Het
Trpm6	T	C	19: 18,832,597	L1119P	possibly damaging	Het
Upf2	A	C	2: 6,027,312	T890P	unknown	Het
Upk1b	T	A	16: 38,780,107	K170N	probably benign	Het
Vps11	A	G	9: 44,361,597	F12S	probably damaging	Het
Zfp318	T	A	17: 46,412,815	C1915S	possibly damaging	Het
Zfp346	A	C	13: 55,113,707	R103S	probably damaging	Het

Other mutations in Vmn1r78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Vmn1r78	APN	7	12153238	missense	probably benign	0.10
IGL02019:Vmn1r78	APN	7	12152707	missense	probably damaging	0.99
IGL02143:Vmn1r78	APN	7	12152480	missense	probably benign
IGL02154:Vmn1r78	APN	7	12152545	missense	probably benign	0.22
IGL02290:Vmn1r78	APN	7	12153155	missense	probably damaging	1.00
IGL03012:Vmn1r78	APN	7	12153364	missense	probably benign	0.32
IGL03256:Vmn1r78	APN	7	12152798	missense	probably damaging	1.00
IGL03373:Vmn1r78	APN	7	12153343	missense	possibly damaging	0.86
IGL03384:Vmn1r78	APN	7	12153209	missense	possibly damaging	0.94
R0016:Vmn1r78	UTSW	7	12153352	missense	probably benign	0.02
R1445:Vmn1r78	UTSW	7	12152581	missense	possibly damaging	0.64
R1748:Vmn1r78	UTSW	7	12153323	missense	probably damaging	1.00
R2017:Vmn1r78	UTSW	7	12153343	missense	possibly damaging	0.86
R2032:Vmn1r78	UTSW	7	12153283	missense	probably benign	0.00
R2198:Vmn1r78	UTSW	7	12152560	missense	probably benign	0.06
R4330:Vmn1r78	UTSW	7	12152459	splice site	probably null
R4769:Vmn1r78	UTSW	7	12152798	missense	probably damaging	1.00
R4801:Vmn1r78	UTSW	7	12152964	nonsense	probably null
R4802:Vmn1r78	UTSW	7	12152964	nonsense	probably null
R4860:Vmn1r78	UTSW	7	12152756	missense	probably damaging	1.00
R4860:Vmn1r78	UTSW	7	12152756	missense	probably damaging	1.00
R5648:Vmn1r78	UTSW	7	12152766	missense	possibly damaging	0.92
R6561:Vmn1r78	UTSW	7	12152899	missense	probably damaging	1.00
R6869:Vmn1r78	UTSW	7	12152749	missense	probably benign	0.01
R6945:Vmn1r78	UTSW	7	12152905	missense	probably benign	0.01
R7793:Vmn1r78	UTSW	7	12153314	missense	probably benign	0.01
R7954:Vmn1r78	UTSW	7	12153300	nonsense	probably null
Z1088:Vmn1r78	UTSW	7	12152714	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTGTCCATTCATGATTAGGACC -3'
(R):5'- GCAACTCAGTAGGCACATAGC -3'

Sequencing Primer
(F):5'- AAAGACTGTCCTGGAACTGTCTCTG -3'
(R):5'- GGACATCCCCCTCATTATTCGG -3'

Posted On

2015-09-24