Mutagenetix > Incidental Mutations

Incidental Mutation 'R0382:Olfr1052'

30994

Institutional Source

Beutler Lab

Gene Symbol

Olfr1052

Ensembl Gene

ENSMUSG00000047149

Gene Name

olfactory receptor 1052

Synonyms

GA_x6K02T2Q125-47777498-47778436, MOR172-1

MMRRC Submission

038588-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86292455-86299233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86298593 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 259 (Y259C)

Ref Sequence

ENSEMBL: ENSMUSP00000149344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054746] [ENSMUST00000215090] [ENSMUST00000217166]

Predicted Effect

probably damaging
Transcript: ENSMUST00000054746
AA Change: Y259C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058454
Gene: ENSMUSG00000047149
AA Change: Y259C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-51	PFAM
Pfam:7tm_1	41	290	6.9e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215090
AA Change: Y259C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217166
AA Change: Y259C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3019

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

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
Aak1	A	T	6: 86,946,919	Q266L	probably benign	Het
Abca13	T	C	11: 9,636,650		probably benign	Het
Adap2	T	C	11: 80,178,385		probably benign	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Brinp1	T	C	4: 68,762,308	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,829,218	P967T	probably damaging	Het
Ces1b	T	C	8: 93,076,052		probably benign	Het
Ckm	T	C	7: 19,421,384	*382Q	probably null	Het
Clec14a	A	G	12: 58,268,617	V73A	probably damaging	Het
Cmya5	A	T	13: 93,092,748	V1944E	probably benign	Het
Col6a6	T	A	9: 105,755,555	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,343	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672	N161S	probably damaging	Het
Dnah17	T	C	11: 118,128,996	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,901,769	V388A	possibly damaging	Het
Fat3	A	G	9: 15,959,756	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,481,060	*401R	probably null	Het
Fbxo5	G	T	10: 5,801,176	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,570,953		probably benign	Het
Fstl3	T	C	10: 79,777,307	S3P	probably benign	Het
Gpatch1	T	C	7: 35,301,655	D309G	probably damaging	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Klk6	A	G	7: 43,829,245	D192G	probably benign	Het
Lrp6	A	G	6: 134,467,668	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,707,906		probably null	Het
Mov10l1	A	G	15: 88,985,593	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,906,913	R62H	probably damaging	Het
Obscn	T	C	11: 59,040,306	T5835A	probably damaging	Het
Olfr1183	A	T	2: 88,461,725	R147S	possibly damaging	Het
Olfr1354	T	A	10: 78,917,126	Y95*	probably null	Het
Olfr792	T	C	10: 129,541,014	I159T	probably benign	Het
P2rx2	T	A	5: 110,341,179	E289V	probably benign	Het
Patl1	T	A	19: 11,925,232		probably null	Het
Ptprf	A	G	4: 118,223,394		probably benign	Het
Qrfpr	C	T	3: 36,180,969	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,645,443	D540E	probably damaging	Het
Rbm45	T	A	2: 76,370,211	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,125,899		probably benign	Het
Sgsm3	G	A	15: 81,008,314	W280*	probably null	Het
Slc9a9	A	T	9: 94,685,217	H113L	probably benign	Het
Slc9b2	G	T	3: 135,318,422	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 83,029,534		noncoding transcript	Het
Slfn8	T	A	11: 83,004,556	I475F	probably damaging	Het
Stox2	A	G	8: 47,203,284		probably benign	Het
Strbp	A	T	2: 37,600,826	N472K	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tmem39a	A	G	16: 38,591,398		probably benign	Het
Trpc4ap	A	G	2: 155,636,230	L664P	probably damaging	Het
Uap1	T	A	1: 170,161,482	M124L	probably benign	Het
Usp48	A	G	4: 137,621,218	N536S	probably benign	Het
Usp50	T	A	2: 126,777,928	I155F	probably damaging	Het
Utp4	T	C	8: 106,922,935	I672T	probably benign	Het
Vmn1r94	A	T	7: 20,167,653	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,483,099	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,847,597	Y395C	probably damaging	Het
Vps41	C	A	13: 18,827,727	H335N	probably benign	Het

Other mutations in Olfr1052

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02632:Olfr1052	APN	2	86298560	missense	probably damaging	0.99
IGL02988:Olfr1052	UTSW	2	86298479	missense	probably damaging	0.99
R0569:Olfr1052	UTSW	2	86298597	missense	probably damaging	1.00
R1476:Olfr1052	UTSW	2	86298479	missense	probably damaging	0.99
R1510:Olfr1052	UTSW	2	86298371	missense	probably damaging	1.00
R1667:Olfr1052	UTSW	2	86298736	missense	probably null	0.02
R2912:Olfr1052	UTSW	2	86298389	missense	probably damaging	0.96
R2913:Olfr1052	UTSW	2	86298389	missense	probably damaging	0.96
R3937:Olfr1052	UTSW	2	86298016	missense	probably damaging	1.00
R4299:Olfr1052	UTSW	2	86298241	missense	possibly damaging	0.46
R4774:Olfr1052	UTSW	2	86298698	missense	possibly damaging	0.91
R5027:Olfr1052	UTSW	2	86298196	missense	possibly damaging	0.84
R5080:Olfr1052	UTSW	2	86297914	missense	probably benign	0.22
R5254:Olfr1052	UTSW	2	86297921	missense	probably damaging	1.00
R5389:Olfr1052	UTSW	2	86298217	missense	possibly damaging	0.90
R6110:Olfr1052	UTSW	2	86298675	missense	probably damaging	0.99
R6492:Olfr1052	UTSW	2	86298646	missense	probably benign	0.05
R6810:Olfr1052	UTSW	2	86297923	missense	probably benign	0.01
R7095:Olfr1052	UTSW	2	86298677	missense	probably benign	0.08
R7104:Olfr1052	UTSW	2	86298220	missense	probably benign
R7320:Olfr1052	UTSW	2	86297994	frame shift	probably null
R7328:Olfr1052	UTSW	2	86297994	frame shift	probably null
R7363:Olfr1052	UTSW	2	86297994	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGTGACATACCATCGCTGCTGATAC -3'
(R):5'- GAGAAGGACTTCATCTCTATGGCTCTCT -3'

Sequencing Primer
(F):5'- ACCTCCATGAATGAATTTCTGC -3'
(R):5'- ATCTCTATGGCTCTCTTTGCAGC -3'

Posted On

2013-04-24