Mutagenetix > Incidental Mutations

Incidental Mutation 'R3236:Olfr1178'

259011

Institutional Source

Beutler Lab

Gene Symbol

Olfr1178

Ensembl Gene

ENSMUSG00000056995

Gene Name

olfactory receptor 1178

Synonyms

GA_x6K02T2Q125-49870417-49871388, MOR225-6P

MMRRC Submission

040618-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88387062-88400799 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88391406 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 53 (I53T)

Ref Sequence

ENSEMBL: ENSMUSP00000150036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075640] [ENSMUST00000214040]

Predicted Effect

probably benign
Transcript: ENSMUST00000075640
AA Change: I53T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000075066
Gene: ENSMUSG00000056995
AA Change: I53T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.5e-49	PFAM
Pfam:7tm_1	39	285	7.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214040
AA Change: I53T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219086

Meta Mutation Damage Score

0.1634

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,368,170	L255F	probably damaging	Het
9130011E15Rik	A	T	19: 45,975,283		probably benign	Het
Aff2	T	A	X: 69,863,937	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,823,087		probably null	Het
Atm	T	A	9: 53,479,748	D1842V	probably benign	Het
Bcar3	C	A	3: 122,524,996	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,447,995	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,807,653	N268K	unknown	Het
Col6a1	G	A	10: 76,711,320	T737M	unknown	Het
Cyp3a25	T	C	5: 146,003,128		probably benign	Het
Dnah17	T	C	11: 118,094,854	T1466A	probably benign	Het
Dnah9	G	A	11: 65,954,989	T3023I	probably benign	Het
Ecm1	G	T	3: 95,734,846	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,831,097		probably null	Het
Fbxo18	T	C	2: 11,769,826	D36G	probably damaging	Het
Fyb	A	C	15: 6,630,116	D434A	probably damaging	Het
Gm5478	A	G	15: 101,644,303	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,425,700	T155K	probably damaging	Het
Hk1	T	C	10: 62,296,019		probably null	Het
Kdm6b	A	G	11: 69,406,366	Y387H	probably damaging	Het
Lipn	A	G	19: 34,068,738	N37S	probably benign	Het
Lrig3	G	A	10: 125,997,187	C310Y	probably damaging	Het
Map6	T	A	7: 99,336,824	V645E	probably damaging	Het
Memo1	A	T	17: 74,202,352	I224K	probably damaging	Het
Morc2a	T	C	11: 3,683,612	I602T	probably benign	Het
N4bp3	A	T	11: 51,645,934	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,944,037	I161F	probably damaging	Het
Notch3	T	C	17: 32,158,461	R214G	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr116	T	C	17: 37,624,236	E133G	possibly damaging	Het
Pdgfra	T	C	5: 75,167,936	V243A	probably damaging	Het
Piwil4	A	G	9: 14,700,248		probably benign	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,445,907	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,291,812	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,408,028	V353I	possibly damaging	Het
Rrh	T	C	3: 129,811,711	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scaf4	T	A	16: 90,260,217	D82V	unknown	Het
Serhl	C	A	15: 83,104,403	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,338,754	V619A	probably damaging	Het
Sf3b3	A	G	8: 110,812,020	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,639,123	I453V	probably damaging	Het
Slf2	A	G	19: 44,942,334	I617V	probably benign	Het
Snrnp200	T	A	2: 127,221,882	D660E	probably damaging	Het
Spata22	T	A	11: 73,345,887	F340I	probably damaging	Het
Speer4e	T	A	5: 14,934,925	E206D	possibly damaging	Het
Stard6	T	A	18: 70,500,486	M188K	probably damaging	Het
Stat6	G	A	10: 127,652,222	V282I	possibly damaging	Het
Supt20	T	C	3: 54,709,080	S253P	possibly damaging	Het
Szt2	A	C	4: 118,383,034		probably null	Het
Thsd4	C	A	9: 60,394,387	K208N	probably benign	Het
Thsd7b	C	T	1: 130,218,118	Q1588*	probably null	Het
Tmem167	C	T	13: 90,104,380	R52C	probably benign	Het
Ttn	T	C	2: 76,899,409		probably benign	Het
Usp39	G	A	6: 72,338,389		probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,779,025	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,304	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,613,375	D1597G	probably damaging	Het

Other mutations in Olfr1178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Olfr1178	APN	2	88391901	missense	possibly damaging	0.79
IGL02261:Olfr1178	APN	2	88391381	missense	probably benign	0.05
IGL03023:Olfr1178	APN	2	88391343	missense	probably damaging	1.00
IGL03053:Olfr1178	APN	2	88391594	missense	probably damaging	1.00
IGL03168:Olfr1178	APN	2	88391594	missense	probably damaging	1.00
R0432:Olfr1178	UTSW	2	88392033	missense	probably damaging	0.98
R1738:Olfr1178	UTSW	2	88391327	missense	probably benign	0.01
R2051:Olfr1178	UTSW	2	88391538	missense	possibly damaging	0.49
R2136:Olfr1178	UTSW	2	88391319	missense	probably benign	0.24
R4407:Olfr1178	UTSW	2	88392083	missense	probably benign	0.37
R4930:Olfr1178	UTSW	2	88391940	missense	probably benign	0.12
R4959:Olfr1178	UTSW	2	88391330	missense	probably benign	0.37
R4973:Olfr1178	UTSW	2	88391330	missense	probably benign	0.37
R5178:Olfr1178	UTSW	2	88391475	missense	possibly damaging	0.50
R5411:Olfr1178	UTSW	2	88391261	missense	probably benign	0.01
R6282:Olfr1178	UTSW	2	88391533	nonsense	probably null
R7289:Olfr1178	UTSW	2	88391706	missense	probably damaging	0.99
R7493:Olfr1178	UTSW	2	88391880	missense	possibly damaging	0.94
R7591:Olfr1178	UTSW	2	88391876	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GATTTCAGATAGACACAGACACTG -3'
(R):5'- ATGGCCACATAGCGGTCATAAG -3'

Sequencing Primer
(F):5'- CACTGTGGATCATGGACTATAGGAC -3'
(R):5'- CGGTCATAAGCCATTCCTGTAAGG -3'

Posted On

2015-01-23