Mutagenetix > Incidental Mutations

Incidental Mutation 'R1452:Olfr1047'

161049

Institutional Source

Beutler Lab

Gene Symbol

Olfr1047

Ensembl Gene

ENSMUSG00000075196

Gene Name

olfactory receptor 1047

Synonyms

MOR188-3, GA_x6K02T2Q125-47703682-47702723

MMRRC Submission

039507-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86226567-86231401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86228455 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 172 (N172I)

Ref Sequence

ENSEMBL: ENSMUSP00000150247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099901] [ENSMUST00000216056]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099901
AA Change: N172I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097485
Gene: ENSMUSG00000075196
AA Change: N172I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5e-51	PFAM
Pfam:7tm_1	41	290	4.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216056
AA Change: N172I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.1250

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,152,939	Y415C	probably damaging	Het
2810474O19Rik	A	T	6: 149,326,632	K392I	probably damaging	Het
A2m	A	G	6: 121,678,056	I1446M	probably benign	Het
Acaca	T	A	11: 84,295,059		probably benign	Het
Adgre4	A	T	17: 55,784,996	E85D	probably benign	Het
Akt3	A	T	1: 177,131,067	Y26N	possibly damaging	Het
Arl15	T	C	13: 113,967,783	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,098,137		probably benign	Het
Atrip	T	A	9: 109,072,659	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,282,239		probably benign	Het
Cd53	C	T	3: 106,768,959	G31S	probably damaging	Het
Cdk14	T	C	5: 4,888,927	S404G	possibly damaging	Het
Cers3	A	T	7: 66,783,404	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,504,153	L448M	probably damaging	Het
Cox15	G	T	19: 43,746,905	T141K	probably damaging	Het
Csnk2a2	C	T	8: 95,457,375		probably benign	Het
Cyp2b10	A	T	7: 25,925,388		probably benign	Het
Cyp2c55	A	G	19: 39,011,090	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,526,691	Y693C	possibly damaging	Het
Des	T	C	1: 75,363,477	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,249,863		probably benign	Het
Eif3m	T	A	2: 105,006,777	Q199L	probably damaging	Het
Emsy	G	T	7: 98,600,674	T802K	probably damaging	Het
Endov	A	G	11: 119,491,825	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,549,166	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,318,402	I363V	probably benign	Het
Gm8674	C	T	13: 49,900,517		noncoding transcript	Het
Gm9733	G	T	3: 15,332,152	T24K	unknown	Het
Il6st	T	A	13: 112,481,464	N137K	possibly damaging	Het
Inf2	A	G	12: 112,601,344	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,559	I376N	probably benign	Het
Kansl3	A	G	1: 36,354,793		probably benign	Het
Kbtbd2	A	T	6: 56,781,924	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,453,327	Y140*	probably null	Het
Macf1	T	A	4: 123,493,998	I924L	probably benign	Het
Mcoln2	A	T	3: 146,181,814	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,381,520	L621Q	probably damaging	Het
Mut	A	G	17: 40,937,468		probably benign	Het
Ncor1	T	C	11: 62,334,631	H1038R	probably damaging	Het
Neb	A	G	2: 52,271,297		probably null	Het
Ngrn	A	G	7: 80,264,772	T224A	probably benign	Het
Nin	G	A	12: 70,017,650	R2019*	probably null	Het
Nphp4	C	G	4: 152,547,018	Q792E	probably damaging	Het
Olfr1166	C	T	2: 88,124,311	V225I	probably benign	Het
Olfr140	C	T	2: 90,051,671	V218I	possibly damaging	Het
Olfr373	C	T	8: 72,100,176	Q139*	probably null	Het
Olfr70	C	T	4: 43,696,823	V117M	probably benign	Het
Pde4dip	C	A	3: 97,724,102	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067		probably benign	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,469,536		probably benign	Het
Prim2	T	A	1: 33,630,404	E163D	probably benign	Het
Prrc2b	A	T	2: 32,194,985	D296V	probably damaging	Het
Pter	A	G	2: 12,978,621		probably benign	Het
Robo2	C	A	16: 73,961,910	V662L	probably damaging	Het
Slco1b2	A	T	6: 141,672,200	I424F	probably benign	Het
Snx29	A	T	16: 11,631,471	H260L	probably damaging	Het
Stil	A	G	4: 115,039,195	N959S	probably benign	Het
Taar8c	A	T	10: 24,101,610	D101E	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,147	M573I	probably damaging	Het
Tsr1	A	T	11: 74,899,599	D171V	probably benign	Het
Ube4b	T	C	4: 149,371,169	T348A	probably damaging	Het
Vmn1r85	A	T	7: 13,084,881	I112N	probably damaging	Het
Vps36	A	G	8: 22,218,210		probably null	Het
Wdfy3	G	A	5: 101,937,738	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,876,800	D14E	probably null	Het
Ylpm1	T	C	12: 85,030,383	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,955,075	F378L	probably benign	Het

Other mutations in Olfr1047

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Olfr1047	APN	2	86228629	missense	possibly damaging	0.78
IGL01470:Olfr1047	APN	2	86228284	missense	probably benign	0.26
IGL02179:Olfr1047	APN	2	86228247	nonsense	probably null
IGL02703:Olfr1047	APN	2	86228979	utr 5 prime	probably benign
R0370:Olfr1047	UTSW	2	86228713	missense	probably damaging	0.99
R1655:Olfr1047	UTSW	2	86228080	missense	possibly damaging	0.95
R1866:Olfr1047	UTSW	2	86228728	missense	probably damaging	0.99
R1970:Olfr1047	UTSW	2	86228252	missense	probably damaging	1.00
R2385:Olfr1047	UTSW	2	86228473	nonsense	probably null
R3411:Olfr1047	UTSW	2	86228642	missense	probably benign	0.08
R3730:Olfr1047	UTSW	2	86228851	missense	probably benign	0.00
R4655:Olfr1047	UTSW	2	86228693	missense	probably benign	0.26
R6168:Olfr1047	UTSW	2	86228594	missense	probably damaging	0.99
R6190:Olfr1047	UTSW	2	86228234	missense	possibly damaging	0.67
R6492:Olfr1047	UTSW	2	86228387	missense	possibly damaging	0.91
R7419:Olfr1047	UTSW	2	86228213	missense	probably damaging	1.00
R8074:Olfr1047	UTSW	2	86228129	missense	possibly damaging	0.55
R8220:Olfr1047	UTSW	2	86228965	missense	probably benign	0.00
R8506:Olfr1047	UTSW	2	86228578	missense	possibly damaging	0.84
Z1088:Olfr1047	UTSW	2	86228222	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTGGAATTAGGCTGCACATAC -3'
(R):5'- TGATCATCCTCACCACAGTGGACTC -3'

Sequencing Primer
(F):5'- CAATGACTACTGTCAGGTGGGAC -3'
(R):5'- ACATCTGGCGATTACAGATCTTGG -3'

Posted On

2014-03-14