Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Olfr1287'

272959

Institutional Source

Beutler Lab

Gene Symbol

Olfr1287

Ensembl Gene

ENSMUSG00000095586

Gene Name

olfactory receptor 1287

Synonyms

MOR248-15, GA_x6K02T2Q125-72500603-72501520

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111449142-111450059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111449565 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 142 (I142F)

Ref Sequence

ENSEMBL: ENSMUSP00000074850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075390]

AlphaFold

Q7TQY1

Predicted Effect

probably benign
Transcript: ENSMUST00000075390
AA Change: I142F

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074850
Gene: ENSMUSG00000095586
AA Change: I142F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	6.7e-48	PFAM
Pfam:7tm_1	41	287	9.5e-20	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	probably damaging	Het

Other mutations in Olfr1287

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Olfr1287	APN	2	111449889	missense	probably benign	0.13
IGL01748:Olfr1287	APN	2	111449530	missense	probably damaging	1.00
IGL02264:Olfr1287	APN	2	111449862	missense	probably benign	0.05
IGL02371:Olfr1287	APN	2	111450009	missense	probably damaging	1.00
IGL02385:Olfr1287	APN	2	111449350	missense	probably damaging	1.00
IGL02704:Olfr1287	APN	2	111449147	missense	probably benign	0.00
R0368:Olfr1287	UTSW	2	111449788	missense	probably benign	0.07
R1520:Olfr1287	UTSW	2	111449274	missense	probably benign	0.00
R2036:Olfr1287	UTSW	2	111449626	missense	possibly damaging	0.80
R2890:Olfr1287	UTSW	2	111449289	missense	probably benign	0.12
R3757:Olfr1287	UTSW	2	111449257	missense	possibly damaging	0.95
R3958:Olfr1287	UTSW	2	111449885	missense	possibly damaging	0.50
R4077:Olfr1287	UTSW	2	111449503	missense	probably damaging	0.99
R4763:Olfr1287	UTSW	2	111449678	nonsense	probably null
R4955:Olfr1287	UTSW	2	111449605	missense	probably damaging	1.00
R4975:Olfr1287	UTSW	2	111449683	missense	probably benign	0.16
R5046:Olfr1287	UTSW	2	111449589	missense	probably benign	0.01
R5512:Olfr1287	UTSW	2	111449754	missense	probably benign	0.00
R5708:Olfr1287	UTSW	2	111450009	missense	probably damaging	1.00
R5771:Olfr1287	UTSW	2	111450061	splice site	probably null
R5780:Olfr1287	UTSW	2	111449833	missense	probably benign	0.03
R6981:Olfr1287	UTSW	2	111449352	missense	probably benign	0.00
R7073:Olfr1287	UTSW	2	111449286	missense	probably benign	0.22
R7633:Olfr1287	UTSW	2	111449622	missense	probably benign
R7963:Olfr1287	UTSW	2	111449626	missense	possibly damaging	0.80
R8121:Olfr1287	UTSW	2	111449160	missense	probably benign	0.20
R8889:Olfr1287	UTSW	2	111449622	missense	probably benign
R8892:Olfr1287	UTSW	2	111449622	missense	probably benign
R9036:Olfr1287	UTSW	2	111449998	missense	probably damaging	1.00
RF037:Olfr1287	UTSW	2	111449551	missense	not run
RF039:Olfr1287	UTSW	2	111449551	missense	not run
Z1088:Olfr1287	UTSW	2	111449457	missense	probably benign	0.02
Z1176:Olfr1287	UTSW	2	111449784	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGCAACCTCTTTGTTGTGATATTG -3'
(R):5'- GTTGCCAAAACACCACTGTC -3'

Sequencing Primer
(F):5'- ACCTCTTTGTTGTGATATTGATCATC -3'
(R):5'- AACACCACTGTCAGCATTTATTAG -3'

Posted On

2015-03-25