Mutagenetix > Incidental Mutations

Incidental Mutation 'R6598:Vmn1r88'

525043

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r88

Ensembl Gene

ENSMUSG00000095902

Gene Name

vomeronasal 1 receptor, 88

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13177719-13178669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13178223 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 169 (Y169H)

Ref Sequence

ENSEMBL: ENSMUSP00000128946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171783]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122190

Predicted Effect

probably damaging
Transcript: ENSMUST00000171783
AA Change: Y169H

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

SMART Domains

Protein: ENSMUSP00000128946
Gene: ENSMUSG00000095902
AA Change: Y169H

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	306	2e-14	PFAM
Pfam:V1R	35	301	1.4e-30	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 55,770,045	S943T	probably benign	Het
Adgrv1	T	G	13: 81,506,179	E2911A	probably damaging	Het
Ankrd28	A	G	14: 31,708,939	F819S	probably damaging	Het
Cald1	G	A	6: 34,746,640		probably null	Het
Casc4	A	T	2: 121,933,485	E247D	probably damaging	Het
Casc4	G	A	2: 121,933,486	E383K	probably damaging	Het
Clca2	G	T	3: 145,086,485	Y338*	probably null	Het
Cmya5	C	T	13: 93,089,808	G2924D	probably benign	Het
Col6a4	A	T	9: 106,000,412	L2122Q	probably damaging	Het
Dapk1	T	C	13: 60,761,347	F1258S	probably benign	Het
Ddx39	T	C	8: 83,722,927	V387A	probably benign	Het
Dscam	A	G	16: 96,819,784	C575R	probably damaging	Het
Dyrk4	C	T	6: 126,876,326	V632M	probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ermp1	A	G	19: 29,632,502	S111P	possibly damaging	Het
Fbxo40	A	T	16: 36,969,014	L578Q	probably damaging	Het
Frem1	A	T	4: 83,013,828	F212Y	probably damaging	Het
Icos	T	G	1: 60,994,697	I162S	possibly damaging	Het
Kcnj8	G	T	6: 142,570,233	N49K	probably damaging	Het
Ldhb	A	T	6: 142,490,600	M281K	possibly damaging	Het
Med17	T	C	9: 15,271,700	K350E	probably benign	Het
Mpo	A	T	11: 87,799,972	N412I	probably benign	Het
Mrps24	A	T	11: 5,704,713	D80E	probably benign	Het
Myo5c	A	G	9: 75,246,234	D134G	probably damaging	Het
Ndufs1	T	C	1: 63,164,950	Q140R	probably null	Het
Nsd1	T	C	13: 55,293,702	V1662A	possibly damaging	Het
Olfr1115	C	T	2: 87,252,756	T273I	probably damaging	Het
Olfr470	G	A	7: 107,845,263	L157F	probably benign	Het
Olfr794	C	A	10: 129,571,369	T238N	probably damaging	Het
Polq	G	A	16: 37,061,631	A1386T	probably benign	Het
Ppil1	C	A	17: 29,261,878	V24F	probably benign	Het
Prim1	G	T	10: 128,020,180	V165L	possibly damaging	Het
Slc12a2	G	A	18: 57,898,073	V317I	probably benign	Het
Tbpl1	A	G	10: 22,707,849	V103A	probably damaging	Het
Tmprss11c	C	T	5: 86,289,233	E10K	probably benign	Het
Unc80	T	G	1: 66,468,540		probably null	Het
Uqcrc1	G	T	9: 108,947,622	V30F	possibly damaging	Het
Zan	A	T	5: 137,406,364		probably benign	Het
Zc3h13	A	G	14: 75,332,183	D1490G	probably damaging	Het
Zer1	T	A	2: 30,113,274	S44C	probably damaging	Het
Zfp106	T	A	2: 120,535,060	K289*	probably null	Het
Zfp618	A	G	4: 63,089,399	Y155C	probably damaging	Het
Zfp979	A	G	4: 147,613,766	L162P	probably damaging	Het

Other mutations in Vmn1r88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01828:Vmn1r88	APN	7	13177735	missense	probably damaging	1.00
IGL01879:Vmn1r88	APN	7	13178302	missense	probably benign	0.12
IGL02028:Vmn1r88	APN	7	13177792	missense	probably benign
IGL02586:Vmn1r88	APN	7	13177808	nonsense	probably null
IGL03176:Vmn1r88	APN	7	13177852	missense	probably damaging	1.00
PIT4466001:Vmn1r88	UTSW	7	13178476	missense	possibly damaging	0.83
R1163:Vmn1r88	UTSW	7	13178133	missense	probably benign
R1478:Vmn1r88	UTSW	7	13177951	missense	probably damaging	1.00
R2376:Vmn1r88	UTSW	7	13177858	missense	probably damaging	0.99
R3624:Vmn1r88	UTSW	7	13177863	missense	probably benign	0.08
R4543:Vmn1r88	UTSW	7	13177980	missense	possibly damaging	0.52
R4593:Vmn1r88	UTSW	7	13177842	missense	probably damaging	0.96
R4721:Vmn1r88	UTSW	7	13178524	nonsense	probably null
R5927:Vmn1r88	UTSW	7	13178513	missense	probably benign	0.12
R6411:Vmn1r88	UTSW	7	13178043	missense	probably damaging	1.00
R6535:Vmn1r88	UTSW	7	13178185	missense	probably benign	0.03
R6857:Vmn1r88	UTSW	7	13178331	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TCTGTTCTAAGCACATCCCAAG -3'
(R):5'- CTTTGCGCTCAGGAGATGAC -3'

Sequencing Primer
(F):5'- TGTTCTAAGCACATCCCAAGTCATC -3'
(R):5'- CTGGGAGGAAAGGTTTGGGC -3'

Posted On

2018-06-22