Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Or2y8'

314119

Institutional Source

Beutler Lab

Gene Symbol

Or2y8

Ensembl Gene

ENSMUSG00000062204

Gene Name

olfactory receptor family 2 subfamily Y member 8

Synonyms

GA_x6K02T2QP88-3283154-3284089, Olfr1373, MOR256-69_p

MMRRC Submission

040968-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4050 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

52035420-52036355 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 52035961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 132 (Y132S)

Ref Sequence

ENSEMBL: ENSMUSP00000077384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078264]

AlphaFold

Q7TQT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000078264
AA Change: Y132S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077384
Gene: ENSMUSG00000062204
AA Change: Y132S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	4.7e-46	PFAM
Pfam:7tm_1	41	289	1.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181262

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,029,449 (GRCm39)	D473G	probably damaging	Het
Abca1	T	A	4: 53,044,144 (GRCm39)	Q1826L	probably damaging	Het
Apob	G	A	12: 8,065,390 (GRCm39)	V4087I	probably benign	Het
Atp10b	G	A	11: 43,150,363 (GRCm39)	A1354T	probably benign	Het
Baz1a	A	G	12: 54,976,404 (GRCm39)	V424A	probably benign	Het
Cdc20b	G	A	13: 113,200,819 (GRCm39)	D180N	probably benign	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Ddb1	A	G	19: 10,605,171 (GRCm39)	D1053G	probably benign	Het
Ddx39a	T	A	8: 84,448,863 (GRCm39)	M246K	probably benign	Het
Dip2a	G	A	10: 76,114,441 (GRCm39)	T1013M	probably damaging	Het
Edar	G	T	10: 58,445,769 (GRCm39)	T265N	possibly damaging	Het
Fcgbpl1	T	C	7: 27,852,410 (GRCm39)	V1311A	possibly damaging	Het
Gbp8	T	A	5: 105,179,104 (GRCm39)	I132F	probably damaging	Het
Gga1	A	G	15: 78,775,691 (GRCm39)	D382G	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm10518	C	A	1: 179,631,378 (GRCm39)		probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
H2-Eb1	T	A	17: 34,533,342 (GRCm39)	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,646,599 (GRCm39)	S95G	probably damaging	Het
Hnf1a	T	A	5: 115,108,633 (GRCm39)	N91Y	probably damaging	Het
Ints10	C	T	8: 69,280,003 (GRCm39)	S710F	probably damaging	Het
Kazn	C	T	4: 141,834,215 (GRCm39)	E614K	unknown	Het
Kif26a	T	A	12: 112,146,350 (GRCm39)	M1812K	probably benign	Het
Lmo7	A	T	14: 102,139,713 (GRCm39)	K488*	probably null	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Met	A	G	6: 17,533,983 (GRCm39)	T645A	probably benign	Het
Mpp4	T	C	1: 59,185,903 (GRCm39)		probably null	Het
Mycl	A	T	4: 122,890,632 (GRCm39)		probably null	Het
Ncbp1	G	A	4: 46,147,483 (GRCm39)	R110H	probably damaging	Het
Nfasc	G	T	1: 132,538,043 (GRCm39)		probably benign	Het
Nup35	A	G	2: 80,486,320 (GRCm39)	I212V	probably benign	Het
Or4p20	A	G	2: 88,253,967 (GRCm39)	M134T	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcgf5	G	A	19: 36,420,311 (GRCm39)	S181N	probably damaging	Het
Plk2	C	T	13: 110,536,400 (GRCm39)	T617I	probably damaging	Het
Polq	A	T	16: 36,913,182 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Pramel24	T	C	4: 143,453,692 (GRCm39)	S267P	probably benign	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Prune1	T	C	3: 95,169,542 (GRCm39)	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,004,840 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall3	G	A	18: 81,014,697 (GRCm39)	A1005V	probably benign	Het
Samd15	T	G	12: 87,247,406 (GRCm39)	N30K	probably benign	Het
Scn8a	A	T	15: 100,911,294 (GRCm39)	K905*	probably null	Het
Scrib	G	A	15: 75,923,322 (GRCm39)	R1245W	possibly damaging	Het
Skint4	C	T	4: 111,981,811 (GRCm39)	S260L	probably benign	Het
Slc29a2	A	T	19: 5,079,481 (GRCm39)	M339L	possibly damaging	Het
Slx9	T	C	10: 77,350,164 (GRCm39)	R75G	possibly damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Synpo2	T	C	3: 122,907,927 (GRCm39)	D463G	possibly damaging	Het
Taf4	C	A	2: 179,573,805 (GRCm39)	G688C	probably damaging	Het
Tasor2	A	G	13: 3,623,507 (GRCm39)	S2148P	probably benign	Het
Tpte	T	A	8: 22,856,000 (GRCm39)	V600E	probably damaging	Het
Ttn	A	G	2: 76,651,510 (GRCm39)	V10953A	probably benign	Het
Vav2	T	C	2: 27,178,691 (GRCm39)	Y333C	probably benign	Het
Vav2	A	G	2: 27,181,415 (GRCm39)	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,327,000 (GRCm39)	M1R	probably null	Het
Zfp26	G	A	9: 20,353,525 (GRCm39)	P88L	probably benign	Het
Zfp324	T	C	7: 12,704,794 (GRCm39)	F328L	probably damaging	Het

Other mutations in Or2y8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02277:Or2y8	APN	11	52,036,189 (GRCm39)	missense	probably damaging	0.97
IGL02814:Or2y8	APN	11	52,035,637 (GRCm39)	missense	probably damaging	1.00
R0490:Or2y8	UTSW	11	52,035,493 (GRCm39)	missense	probably damaging	1.00
R1075:Or2y8	UTSW	11	52,035,677 (GRCm39)	missense	possibly damaging	0.94
R5666:Or2y8	UTSW	11	52,035,525 (GRCm39)	nonsense	probably null
R6267:Or2y8	UTSW	11	52,035,423 (GRCm39)	missense	probably benign	0.28
R6296:Or2y8	UTSW	11	52,035,423 (GRCm39)	missense	probably benign	0.28
R6720:Or2y8	UTSW	11	52,035,520 (GRCm39)	missense	probably benign	0.18
R6887:Or2y8	UTSW	11	52,036,179 (GRCm39)	missense	probably benign	0.01
R8797:Or2y8	UTSW	11	52,036,340 (GRCm39)	missense	probably benign	0.05
V1662:Or2y8	UTSW	11	52,036,004 (GRCm39)	missense	probably damaging	1.00
X0066:Or2y8	UTSW	11	52,036,091 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGGCCATCTTCAGGAGAACAG -3'
(R):5'- GCCTGCACACACTCATGTAC -3'

Sequencing Primer
(F):5'- CATCTTCAGGAGAACAGGTAGCTC -3'
(R):5'- TGGACCTCTGCTACACCG -3'

Posted On

2015-04-30