Mutagenetix > Incidental Mutations

Incidental Mutation 'R0490:Olfr1373'

43454

Institutional Source

Beutler Lab

Gene Symbol

Olfr1373

Ensembl Gene

ENSMUSG00000062204

Gene Name

olfactory receptor 1373

Synonyms

MOR256-69_p, GA_x6K02T2QP88-3283154-3284089

MMRRC Submission

038688-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0490 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52144593-52145528 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52144666 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 288 (I288T)

Ref Sequence

ENSEMBL: ENSMUSP00000077384 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000078264
AA Change: I288T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077384
Gene: ENSMUSG00000062204
AA Change: I288T

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

Meta Mutation Damage Score

0.4012

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

100% (60/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,227,342	Y640N	probably damaging	Het
Adamts9	T	A	6: 92,872,866	Q402L	probably benign	Het
Als2cl	A	G	9: 110,895,346	T750A	probably benign	Het
Ank1	C	A	8: 23,107,874		probably benign	Het
Ap4e1	T	A	2: 127,046,186	N404K	probably damaging	Het
Atf7ip	G	T	6: 136,609,192		probably benign	Het
Bean1	A	T	8: 104,215,028	T169S	possibly damaging	Het
Bod1l	G	T	5: 41,821,892	T693N	probably damaging	Het
Ccdc81	A	T	7: 89,887,762	V226D	probably benign	Het
Cd48	A	G	1: 171,704,877	*241W	probably null	Het
Cdon	C	A	9: 35,452,682	S32Y	probably damaging	Het
Cers3	A	G	7: 66,773,690	S128G	possibly damaging	Het
Cntn6	T	C	6: 104,833,918	V641A	possibly damaging	Het
Col6a4	G	A	9: 106,013,770	T1775I	probably damaging	Het
Dnah8	T	C	17: 30,700,419	V1122A	probably benign	Het
Dst	G	T	1: 34,307,368	G5102*	probably null	Het
Dvl3	C	T	16: 20,527,423		probably benign	Het
Epha5	G	T	5: 84,107,974		probably benign	Het
Fscb	G	A	12: 64,472,887	P602S	unknown	Het
Fxn	A	G	19: 24,277,179		probably null	Het
Gipc2	A	G	3: 152,102,654	L254P	possibly damaging	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gng8	A	G	7: 16,894,983	T14A	probably benign	Het
Gsdmc3	C	T	15: 63,860,250	G309D	possibly damaging	Het
Gsr	T	A	8: 33,671,512		probably benign	Het
Gtdc1	A	T	2: 44,635,040	D152E	probably benign	Het
Herc1	A	G	9: 66,484,999	D4063G	probably damaging	Het
Hsdl2	C	T	4: 59,612,814		probably benign	Het
Iqgap3	T	C	3: 88,114,056		probably benign	Het
Kcnj10	A	G	1: 172,369,452	T178A	probably damaging	Het
Lama5	T	A	2: 180,180,169	I2958F	possibly damaging	Het
Lnx1	T	A	5: 74,620,347		probably null	Het
Lpl	A	G	8: 68,896,691	R290G	probably damaging	Het
Mamdc4	C	T	2: 25,563,581	R1196K	probably benign	Het
Mogat2	T	C	7: 99,223,144	S167G	probably benign	Het
Nek8	T	A	11: 78,167,729	I582F	probably benign	Het
Notch4	T	A	17: 34,582,890	D1237E	probably damaging	Het
Olfr1457	A	G	19: 13,094,812	Y279H	probably damaging	Het
Olfr1475	G	A	19: 13,479,493	A235V	probably damaging	Het
Olfr1499	A	G	19: 13,814,855	L245P	probably damaging	Het
Pcdhb8	T	C	18: 37,356,780	S504P	probably damaging	Het
Pigs	T	C	11: 78,335,625	S223P	probably damaging	Het
Prkch	A	G	12: 73,759,676	I566V	probably damaging	Het
Ptpn22	T	C	3: 103,886,179	S549P	probably damaging	Het
Rita1	A	T	5: 120,611,565	F28I	probably damaging	Het
Rpgrip1l	A	T	8: 91,299,845		probably benign	Het
Slc1a1	A	G	19: 28,897,531	K170E	probably benign	Het
Spag17	C	T	3: 99,982,411	R199W	probably damaging	Het
Tas2r116	T	C	6: 132,856,021	V195A	probably benign	Het
Trav7d-3	C	A	14: 52,744,550		probably benign	Het
Trim15	T	C	17: 36,866,355	K138E	probably benign	Het
Ttn	T	A	2: 76,708,830	H34604L	probably benign	Het
Ttn	C	T	2: 76,747,532	R16012K	probably damaging	Het
Zfp948	T	C	17: 21,588,034	V496A	probably benign	Het
Zfy2	A	T	Y: 2,106,620	S671R	possibly damaging	Het
Zswim1	T	A	2: 164,825,283	Y152N	possibly damaging	Het

Other mutations in Olfr1373

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02277:Olfr1373	APN	11	52145362	missense	probably damaging	0.97
IGL02814:Olfr1373	APN	11	52144810	missense	probably damaging	1.00
R1075:Olfr1373	UTSW	11	52144850	missense	possibly damaging	0.94
R4050:Olfr1373	UTSW	11	52145134	missense	probably damaging	1.00
R5666:Olfr1373	UTSW	11	52144698	nonsense	probably null
R6267:Olfr1373	UTSW	11	52144596	missense	probably benign	0.28
R6296:Olfr1373	UTSW	11	52144596	missense	probably benign	0.28
R6720:Olfr1373	UTSW	11	52144693	missense	probably benign	0.18
R6887:Olfr1373	UTSW	11	52145352	missense	probably benign	0.01
V1662:Olfr1373	UTSW	11	52145177	missense	probably damaging	1.00
X0066:Olfr1373	UTSW	11	52145264	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGGAGGTCGAGATAAGTCCAGTGC -3'
(R):5'- AGGCTCCTATGCTCACATTGCCAG -3'

Sequencing Primer
(F):5'- agtaatggaattagcaaaaagtggg -3'
(R):5'- TGCTGAACATCAGGTCAGTGG -3'

Posted On

2013-05-23