Mutagenetix > Incidental Mutation

Incidental Mutation 'D605:Or5b118'

571

Institutional Source

Beutler Lab

Gene Symbol

Or5b118

Ensembl Gene

ENSMUSG00000096273

Gene Name

olfactory receptor family 5 subfamily B member 118

Synonyms

Olfr1474, MOR202-26P, GA_x6K02T2RE5P-3803583-3804527, MOR202-42

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

D605 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

13448336-13449280 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 13448521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 62 (C62*)

Ref Sequence

ENSEMBL: ENSMUSP00000151810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096202] [ENSMUST00000207529] [ENSMUST00000220113]

AlphaFold

Q7TQQ8

Predicted Effect

probably null
Transcript: ENSMUST00000096202
AA Change: C62*

SMART Domains

Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: C62*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.6e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1e-7	PFAM
Pfam:7tm_1	39	288	8.7e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000207529
AA Change: C20*

Predicted Effect

probably null
Transcript: ENSMUST00000220113
AA Change: C62*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 75.6%
3x: 45.1%

Het Detection Efficiency

20.0%

Validation Efficiency

89% (63/71)

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

none

Other mutations in this stock

Total: 4 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C2cd5	C	T	6: 142,975,386 (GRCm39)	V787I	probably benign	Het
Kat2b	A	G	17: 53,936,358 (GRCm39)	R99G	probably damaging	Het
Ly75	A	G	2: 60,182,696 (GRCm39)		probably null	Het
Sfmbt2	C	T	2: 10,584,136 (GRCm39)	T864I	probably benign	Het

Other mutations in Or5b118

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03256:Or5b118	APN	19	13,448,631 (GRCm39)	missense	probably damaging	0.99
R0173:Or5b118	UTSW	19	13,449,065 (GRCm39)	missense	probably benign	0.02
R1102:Or5b118	UTSW	19	13,448,771 (GRCm39)	missense	probably damaging	0.97
R1515:Or5b118	UTSW	19	13,449,044 (GRCm39)	missense	probably damaging	0.97
R1780:Or5b118	UTSW	19	13,448,726 (GRCm39)	missense	probably benign	0.14
R2061:Or5b118	UTSW	19	13,448,605 (GRCm39)	missense	probably damaging	0.98
R4016:Or5b118	UTSW	19	13,448,561 (GRCm39)	missense	possibly damaging	0.95
R4485:Or5b118	UTSW	19	13,448,919 (GRCm39)	missense	probably benign	0.08
R5119:Or5b118	UTSW	19	13,448,910 (GRCm39)	missense	probably benign	0.00
R5150:Or5b118	UTSW	19	13,448,794 (GRCm39)	missense	probably benign	0.01
R5156:Or5b118	UTSW	19	13,449,037 (GRCm39)	missense	probably damaging	1.00
R5699:Or5b118	UTSW	19	13,448,336 (GRCm39)	start codon destroyed	probably null	0.78
R5800:Or5b118	UTSW	19	13,449,260 (GRCm39)	missense	probably benign	0.06
R5840:Or5b118	UTSW	19	13,449,242 (GRCm39)	missense	probably benign	0.01
R5953:Or5b118	UTSW	19	13,448,732 (GRCm39)	missense	possibly damaging	0.92
R5997:Or5b118	UTSW	19	13,448,870 (GRCm39)	missense	probably benign	0.12
R6233:Or5b118	UTSW	19	13,449,104 (GRCm39)	missense	probably damaging	1.00
R6488:Or5b118	UTSW	19	13,448,981 (GRCm39)	missense	probably damaging	1.00
R6847:Or5b118	UTSW	19	13,448,402 (GRCm39)	missense	probably benign	0.03
R6964:Or5b118	UTSW	19	13,448,725 (GRCm39)	nonsense	probably null
R7214:Or5b118	UTSW	19	13,448,337 (GRCm39)	start codon destroyed	probably null	1.00
R8001:Or5b118	UTSW	19	13,448,786 (GRCm39)	missense	probably benign	0.03
R8035:Or5b118	UTSW	19	13,449,263 (GRCm39)	missense	probably benign
R8129:Or5b118	UTSW	19	13,448,508 (GRCm39)	missense	probably damaging	1.00
R9018:Or5b118	UTSW	19	13,448,721 (GRCm39)	missense	possibly damaging	0.60
R9061:Or5b118	UTSW	19	13,448,523 (GRCm39)	missense	probably damaging	0.98
R9065:Or5b118	UTSW	19	13,448,670 (GRCm39)	missense	probably damaging	0.97
R9373:Or5b118	UTSW	19	13,449,216 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 186 of the Olfr1474 transcript, in exon 1 of 1 exon (NM_001011842). The mutation converts the codon for cysteine 62 to a premature stop codon (NP_001011842). The mutation has been confirmed by DNA sequencing using the Sanger method (see trace file).

Protein Function and Prediction

The 314 amino acid olfactory receptor 1474 is a potential odorant receptor belonging to the seven transmembrane G-protein coupled receptor family (Uniprot Q7TQQ8).

The mutation causes truncation of 252 amino acids from Olfr1474. This allele is likely to be null.

Posted On

2010-11-24