Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02270:Olfr2'

287103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr2

Ensembl Gene

ENSMUSG00000070417

Gene Name

olfactory receptor 2

Synonyms

MOR103-15, I7, I54, Olfr41, GA_x6K02T2PBJ9-9381439-9380456

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

IGL02270

Quality Score

Status

Chromosome

Chromosomal Location

106995399-107006072 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107001423 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 146 (C146S)

Ref Sequence

ENSEMBL: ENSMUSP00000150093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094109] [ENSMUST00000207280] [ENSMUST00000208147] [ENSMUST00000211432] [ENSMUST00000214105] [ENSMUST00000216375]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094109
AA Change: C146S

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

SMART Domains

Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: C146S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	313	9.2e-53	PFAM
Pfam:7tm_1	42	295	3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207280
AA Change: C146S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208147
AA Change: C146S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211432
AA Change: C146S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214105
AA Change: C146S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216375
AA Change: C146S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217764

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,559,195		probably null	Het
Bmi1	T	A	2: 18,684,458	S318T	probably benign	Het
Cntnap5c	G	A	17: 58,034,853	V180I	probably benign	Het
Cyp2b10	A	G	7: 25,913,937	E186G	probably damaging	Het
Ddx25	G	T	9: 35,554,412		probably benign	Het
Dis3	A	G	14: 99,078,354	F901L	probably benign	Het
Dnah7a	T	A	1: 53,472,893	N3003I	possibly damaging	Het
Ebf2	A	G	14: 67,238,953	D124G	probably damaging	Het
Efcab5	A	T	11: 77,104,313	I1144N	probably damaging	Het
Exoc4	G	A	6: 33,580,026	V489I	possibly damaging	Het
Garem1	A	G	18: 21,148,450	V283A	probably damaging	Het
Gfra2	G	A	14: 70,925,907	R210H	possibly damaging	Het
Gli3	T	C	13: 15,726,786		probably benign	Het
Gm7247	A	T	14: 51,521,884	M107L	probably benign	Het
Map2k5	A	T	9: 63,322,197		probably null	Het
Mki67	C	T	7: 135,698,632	D1558N	probably damaging	Het
Mylk4	A	G	13: 32,729,066		probably benign	Het
Olfr1	A	G	11: 73,395,365	V219A	probably benign	Het
Olfr112	G	T	17: 37,563,580	H244N	possibly damaging	Het
Olfr669	A	G	7: 104,939,369	N281S	possibly damaging	Het
Plcd1	T	C	9: 119,084,641	T50A	probably damaging	Het
Rasgrp3	A	G	17: 75,516,373	R480G	probably benign	Het
Ripor3	T	C	2: 167,993,496	E185G	probably damaging	Het
S1pr3	T	C	13: 51,419,056	I91T	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc28a3	T	C	13: 58,580,584	T104A	probably benign	Het
Slc6a11	A	G	6: 114,238,396	D419G	probably damaging	Het
St3gal2	A	G	8: 110,957,766	I19V	probably benign	Het
Sycp1	C	A	3: 102,895,943	C517F	probably benign	Het
Trav15-1-dv6-1	G	A	14: 53,559,998	E35K	possibly damaging	Het
Vmn1r121	T	C	7: 21,098,476	E13G	probably damaging	Het
Vmn1r199	T	A	13: 22,383,006	S114T	probably damaging	Het
Vmn2r-ps159	T	C	4: 156,334,655		noncoding transcript	Het

Other mutations in Olfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02620:Olfr2	APN	7	107001618	nonsense	probably null
IGL02942:Olfr2	APN	7	107001354	missense	possibly damaging	0.88
R1171:Olfr2	UTSW	7	107001584	missense	probably benign
R1956:Olfr2	UTSW	7	107001135	missense	probably damaging	1.00
R2128:Olfr2	UTSW	7	107001248	missense	probably damaging	1.00
R2342:Olfr2	UTSW	7	107000909	missense	probably benign
R2351:Olfr2	UTSW	7	107001676	nonsense	probably null
R3752:Olfr2	UTSW	7	107001475	nonsense	probably null
R4197:Olfr2	UTSW	7	107001038	missense	probably damaging	0.97
R4237:Olfr2	UTSW	7	107001329	missense	probably damaging	1.00
R4787:Olfr2	UTSW	7	107001086	missense	probably benign	0.00
R4795:Olfr2	UTSW	7	107001335	missense	probably damaging	1.00
R4796:Olfr2	UTSW	7	107001335	missense	probably damaging	1.00
R5268:Olfr2	UTSW	7	107000904	missense	probably benign	0.00
R5412:Olfr2	UTSW	7	107001635	missense	probably damaging	0.99
R5474:Olfr2	UTSW	7	107001089	missense	probably damaging	0.98
R5542:Olfr2	UTSW	7	107001079	missense	probably damaging	1.00
R5792:Olfr2	UTSW	7	107001443	missense	possibly damaging	0.61
R6149:Olfr2	UTSW	7	107001600	missense	probably benign
R7552:Olfr2	UTSW	7	107001327	missense	probably benign

Posted On

2015-04-16