Mutagenetix > Incidental Mutations

Incidental Mutation 'B5639:Olfr181'

543

Institutional Source

Beutler Lab

Gene Symbol

Olfr181

Ensembl Gene

ENSMUSG00000090951

Gene Name

olfactory receptor 181

Synonyms

MOR184-4, GA_x54KRFPKG5P-55145984-55145034

Accession Numbers

Genbank: NM_146999

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

B5639 of strain 3d

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58924707-58928755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58926526 bp

Zygosity

Homozygous

Amino Acid Change

Isoleucine to Lysine at position 15 (I15K)

Ref Sequence

ENSEMBL: ENSMUSP00000145877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075361] [ENSMUST00000205668] [ENSMUST00000205742] [ENSMUST00000205986] [ENSMUST00000206168]

Predicted Effect

probably benign
Transcript: ENSMUST00000075361
AA Change: I15K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074825
Gene: ENSMUSG00000090951
AA Change: I15K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	5.7e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	308	6.1e-6	PFAM
Pfam:7tm_1	41	308	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205668
AA Change: I15K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000205742
AA Change: I15K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000205986
AA Change: I15K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000206168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214942

Meta Mutation Damage Score

0.1346

Coding Region Coverage

1x: 89.7%
3x: 78.3%

Het Detection Efficiency

55.9%

Validation Efficiency

83% (206/248)

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

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnmt1	G	A	9: 20,907,968		probably benign	Het
Eno1	A	G	4: 150,245,112		probably benign	Het
Ercc8	G	A	13: 108,160,723	G56R	probably damaging	Homo
Gm8773	C	T	5: 5,574,060		probably benign	Homo
Idh1	A	G	1: 65,165,098		probably null	Homo
Incenp	G	A	19: 9,893,818	T149I	unknown	Het
Olfr1155	G	A	2: 87,943,598	S10F	probably benign	Het
Pdk2	T	C	11: 95,032,498	D100G	possibly damaging	Homo
Prss56	T	C	1: 87,187,170	L465P	probably benign	Homo
Slc10a3	G	A	X: 74,369,539	P416L	probably damaging	Homo
Syne2	C	A	12: 75,929,790	T1243K	probably benign	Het
Vwf	T	C	6: 125,642,984	Y1542H	probably damaging	Homo
Zc3h13	G	A	14: 75,316,039	R302Q	probably damaging	Het
Zfhx4	G	T	3: 5,403,175	G2798W	probably damaging	Homo
Zfp667	A	G	7: 6,290,545	T15A	probably damaging	Het

Other mutations in Olfr181

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Olfr181	APN	16	58926566	missense	probably benign
IGL02477:Olfr181	APN	16	58925763	missense	probably benign	0.07
IGL02545:Olfr181	APN	16	58926470	missense	possibly damaging	0.88
IGL02690:Olfr181	APN	16	58925851	missense	possibly damaging	0.78
IGL02718:Olfr181	APN	16	58926096	missense	possibly damaging	0.57
IGL02945:Olfr181	APN	16	58926340	missense	probably damaging	1.00
IGL03349:Olfr181	APN	16	58925960	missense	probably benign	0.00
R0550:Olfr181	UTSW	16	58926385	missense	probably damaging	1.00
R0659:Olfr181	UTSW	16	58926409	missense	possibly damaging	0.94
R1433:Olfr181	UTSW	16	58925686	missense	probably benign
R1957:Olfr181	UTSW	16	58926167	missense	probably benign
R2155:Olfr181	UTSW	16	58926123	missense	probably benign	0.01
R2404:Olfr181	UTSW	16	58925635	missense	probably benign	0.01
R2568:Olfr181	UTSW	16	58925923	missense	probably benign	0.27
R4022:Olfr181	UTSW	16	58926120	missense	possibly damaging	0.94
R4592:Olfr181	UTSW	16	58926092	missense	probably benign	0.00
R4673:Olfr181	UTSW	16	58925690	missense	possibly damaging	0.61
R4880:Olfr181	UTSW	16	58926100	missense	probably damaging	0.98
R5109:Olfr181	UTSW	16	58926059	missense	probably benign	0.10
R5231:Olfr181	UTSW	16	58925714	missense	possibly damaging	0.94
R5291:Olfr181	UTSW	16	58926401	missense	possibly damaging	0.96
R5477:Olfr181	UTSW	16	58926030	missense	possibly damaging	0.61
R5524:Olfr181	UTSW	16	58925809	missense	probably benign	0.00
R5809:Olfr181	UTSW	16	58926497	missense	probably benign
R5830:Olfr181	UTSW	16	58926094	missense	possibly damaging	0.64
R6119:Olfr181	UTSW	16	58926532	missense	possibly damaging	0.94
R6217:Olfr181	UTSW	16	58926514	missense	probably benign	0.03
R6861:Olfr181	UTSW	16	58926504	missense	probably benign
R6939:Olfr181	UTSW	16	58926285	nonsense	probably null
R7376:Olfr181	UTSW	16	58925758	missense	possibly damaging	0.82
R7650:Olfr181	UTSW	16	58926053	nonsense	probably null

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 422 of the Olfr181 transcript, in exon 2 of 2 total exons. The mutation causes an isoleucine to lysine change at amino acid 15 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).

Protein Function and Prediction

The 317 amino acid olfactory receptor 181 (Olfr181) is a potential odorant receptor belonging to the seven transmembrane G-protein coupled receptor family (Uniprot Q8VGQ7). Its N and C termini are positioned extracellularly and intracellularly, respectively.

The mutation lies in the extracellular N-terminal segment of the protein, and is predicted to be benign by the PolyPhen-2 program.

Posted On

2010-11-23