Mutagenetix > Incidental Mutation

Incidental Mutation 'R0412:Or2y1'

36727

Institutional Source

Beutler Lab

Gene Symbol

Or2y1

Ensembl Gene

ENSMUSG00000059729

Gene Name

olfactory receptor family 2 subfamily Y member 1

Synonyms

Olfr1385, Olfr1549-ps1, MOR256-42P, MOR256-42P, GA_x6K02T2QP88-5941817-5940888, MOR256-41P

MMRRC Submission

038614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R0412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49385362-49386291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49385594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 78 (V78E)

Ref Sequence

ENSEMBL: ENSMUSP00000150035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071807] [ENSMUST00000214948]

AlphaFold

Q7TQT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000071807
AA Change: V78E

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

SMART Domains

Protein: ENSMUSP00000071710
Gene: ENSMUSG00000059729
AA Change: V78E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	2.1e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	214	9.5e-6	PFAM
Pfam:7tm_1	41	289	2.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214948
AA Change: V78E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216450

Meta Mutation Damage Score

0.6973

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.2%

Validation Efficiency

94% (67/71)

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
Arap1	C	A	7: 101,039,429 (GRCm39)	A563D	probably damaging	Het
Arhgap28	G	A	17: 68,203,253 (GRCm39)	L67F	probably damaging	Het
Atp7b	G	T	8: 22,485,675 (GRCm39)		probably null	Het
Auts2	A	G	5: 131,475,669 (GRCm39)	F485L	probably benign	Het
Ccdc68	A	G	18: 70,093,510 (GRCm39)	E239G	probably damaging	Het
Cdc42bpg	T	G	19: 6,363,487 (GRCm39)	L449R	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Ddx41	G	T	13: 55,678,421 (GRCm39)	S630Y	probably damaging	Het
Dntt	T	C	19: 41,031,372 (GRCm39)	L274P	probably damaging	Het
Fhl4	G	T	10: 84,934,680 (GRCm39)	H34N	possibly damaging	Het
Filip1	A	T	9: 79,727,571 (GRCm39)	N349K	possibly damaging	Het
Gm9894	C	T	13: 67,913,145 (GRCm39)		noncoding transcript	Het
Gpr179	A	G	11: 97,229,633 (GRCm39)	S841P	probably damaging	Het
Gpr35	G	T	1: 92,910,506 (GRCm39)	V73L	probably benign	Het
Grik5	A	G	7: 24,713,099 (GRCm39)	V809A	possibly damaging	Het
H2-T13	T	A	17: 36,392,413 (GRCm39)		probably benign	Het
Heatr5b	T	C	17: 79,128,283 (GRCm39)	T451A	probably benign	Het
Hmcn2	G	A	2: 31,278,259 (GRCm39)	V1654M	probably damaging	Het
Htra3	G	T	5: 35,828,409 (GRCm39)	A157E	probably damaging	Het
Igf2r	A	T	17: 12,902,835 (GRCm39)	V2405D	probably damaging	Het
Irs3	C	A	5: 137,642,139 (GRCm39)	R433L	probably benign	Het
Kcmf1	G	A	6: 72,825,224 (GRCm39)	Q239*	probably null	Het
Kcnk9	A	G	15: 72,384,905 (GRCm39)		probably benign	Het
Kif28	A	G	1: 179,530,091 (GRCm39)	V622A	probably benign	Het
Klrb1f	A	T	6: 129,031,294 (GRCm39)	I164F	probably benign	Het
Lama2	A	G	10: 27,066,621 (GRCm39)	S1087P	possibly damaging	Het
Mchr1	A	T	15: 81,119,948 (GRCm39)		probably benign	Het
Mcidas	A	G	13: 113,135,677 (GRCm39)	T367A	probably damaging	Het
Mphosph8	A	C	14: 56,911,870 (GRCm39)	K298Q	probably damaging	Het
Mroh2a	G	T	1: 88,162,938 (GRCm39)	Q360H	probably benign	Het
Mst1	A	C	9: 107,960,793 (GRCm39)	D461A	probably benign	Het
Nckap1l	A	T	15: 103,373,079 (GRCm39)	S311C	probably benign	Het
Or4c125	T	A	2: 89,170,422 (GRCm39)	M75L	probably benign	Het
Or5m9b	C	T	2: 85,905,435 (GRCm39)	A117V	probably benign	Het
Or8c11	A	C	9: 38,290,090 (GRCm39)	K298N	probably damaging	Het
Pde3a	T	G	6: 141,444,410 (GRCm39)	C1073G	probably damaging	Het
Pkhd1	T	C	1: 20,188,012 (GRCm39)	D3432G	probably damaging	Het
Ppargc1b	G	T	18: 61,448,932 (GRCm39)	P130Q	probably damaging	Het
Ppp6r1	A	G	7: 4,645,213 (GRCm39)	I228T	probably damaging	Het
Pram1	A	G	17: 33,860,480 (GRCm39)	N349S	probably benign	Het
Ranbp6	C	T	19: 29,789,483 (GRCm39)	V290I	possibly damaging	Het
Rcan3	A	T	4: 135,143,914 (GRCm39)		probably null	Het
Scn8a	G	C	15: 100,906,187 (GRCm39)		probably benign	Het
Slc12a5	C	T	2: 164,835,982 (GRCm39)	T900M	probably benign	Het
Srsf10	A	G	4: 135,585,714 (GRCm39)	Y55C	probably damaging	Het
Syt7	G	T	19: 10,421,444 (GRCm39)	E450*	probably null	Het
Tbrg4	T	C	11: 6,573,832 (GRCm39)	K130R	probably benign	Het
Tgm7	C	A	2: 120,931,546 (GRCm39)	V206F	probably damaging	Het
Tmem131l	T	C	3: 83,938,955 (GRCm39)	D67G	probably damaging	Het
Ttc7	A	G	17: 87,637,472 (GRCm39)	K409R	probably benign	Het
Unc80	A	T	1: 66,590,096 (GRCm39)		probably benign	Het
Vmn1r171	C	T	7: 23,332,080 (GRCm39)	L102F	possibly damaging	Het
Vmn2r59	A	C	7: 41,695,916 (GRCm39)		probably benign	Het
Vsig2	A	G	9: 37,453,986 (GRCm39)	R191G	probably damaging	Het
Wdr86	T	A	5: 24,923,232 (GRCm39)	Q153H	probably benign	Het
Wdr87-ps	C	G	7: 29,229,995 (GRCm39)		noncoding transcript	Het
Xxylt1	T	A	16: 30,826,616 (GRCm39)	N233I	probably damaging	Het
Zfp160	A	T	17: 21,247,139 (GRCm39)	E563V	probably damaging	Het
Zfp345	T	A	2: 150,315,323 (GRCm39)	E71D	probably benign	Het
Zfp541	A	G	7: 15,816,099 (GRCm39)	D862G	possibly damaging	Het
Zfp639	A	C	3: 32,571,259 (GRCm39)	Q47P	possibly damaging	Het

Other mutations in Or2y1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Or2y1	APN	11	49,385,793 (GRCm39)	missense	probably damaging	0.99
IGL02098:Or2y1	APN	11	49,386,224 (GRCm39)	missense	probably damaging	1.00
IGL03206:Or2y1	APN	11	49,385,536 (GRCm39)	missense	probably benign	0.05
IGL03402:Or2y1	APN	11	49,385,873 (GRCm39)	missense	probably benign
R1263:Or2y1	UTSW	11	49,385,848 (GRCm39)	missense	probably benign
R1371:Or2y1	UTSW	11	49,385,650 (GRCm39)	missense	probably damaging	1.00
R1488:Or2y1	UTSW	11	49,385,945 (GRCm39)	missense	probably benign	0.07
R1835:Or2y1	UTSW	11	49,385,497 (GRCm39)	missense	probably damaging	1.00
R1923:Or2y1	UTSW	11	49,386,131 (GRCm39)	missense	probably damaging	0.97
R2290:Or2y1	UTSW	11	49,385,857 (GRCm39)	missense	probably benign
R3738:Or2y1	UTSW	11	49,386,287 (GRCm39)	missense	possibly damaging	0.56
R3739:Or2y1	UTSW	11	49,386,287 (GRCm39)	missense	possibly damaging	0.56
R4034:Or2y1	UTSW	11	49,386,287 (GRCm39)	missense	possibly damaging	0.56
R4193:Or2y1	UTSW	11	49,386,134 (GRCm39)	missense	probably damaging	1.00
R4406:Or2y1	UTSW	11	49,385,744 (GRCm39)	missense	probably benign	0.01
R5239:Or2y1	UTSW	11	49,385,555 (GRCm39)	missense	possibly damaging	0.93
R6713:Or2y1	UTSW	11	49,385,784 (GRCm39)	missense	probably damaging	1.00
R6861:Or2y1	UTSW	11	49,385,632 (GRCm39)	missense	probably benign	0.00
R7916:Or2y1	UTSW	11	49,385,543 (GRCm39)	missense	probably benign
R8712:Or2y1	UTSW	11	49,385,671 (GRCm39)	missense	probably benign
R9509:Or2y1	UTSW	11	49,385,476 (GRCm39)	missense	probably benign
R9624:Or2y1	UTSW	11	49,385,834 (GRCm39)	missense	possibly damaging	0.94
R9793:Or2y1	UTSW	11	49,385,882 (GRCm39)	missense	probably damaging	1.00
R9795:Or2y1	UTSW	11	49,385,882 (GRCm39)	missense	probably damaging	1.00
Z1176:Or2y1	UTSW	11	49,385,894 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAAGGGCCTGGTTCAGGAAATC -3'
(R):5'- TGGACGACACACAGCAGCATAG -3'

Sequencing Primer
(F):5'- GTGGGCACTAAGTTAATACCCTG -3'
(R):5'- ACAGCAGCATAGCGGTC -3'

Posted On

2013-05-09