Mutagenetix > Incidental Mutation

Incidental Mutation 'G4846:Or6c88'

528

Institutional Source

Beutler Lab

Gene Symbol

Or6c88

Ensembl Gene

ENSMUSG00000044293

Gene Name

olfactory receptor family 6 subfamily C member 88

Synonyms

MOR114-11, Olfr794, GA_x6K02T2PULF-11248702-11249664

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

G4846 (G3) of strain Worker

Quality Score

Status

Validated

Chromosome

Chromosomal Location

129406526-129407488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129407039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 172 (I172F)

Ref Sequence

ENSEMBL: ENSMUSP00000145301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059957] [ENSMUST00000204820]

AlphaFold

Q8VF26

Predicted Effect

probably damaging
Transcript: ENSMUST00000059957
AA Change: I172F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049790
Gene: ENSMUSG00000044293
AA Change: I172F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.8e-49	PFAM
Pfam:7tm_1	39	288	2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204820
AA Change: I172F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145301
Gene: ENSMUSG00000044293
AA Change: I172F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.8e-49	PFAM
Pfam:7tm_1	39	288	2e-22	PFAM

Meta Mutation Damage Score

0.3545

Coding Region Coverage

1x: 77.7%
3x: 53.3%

Het Detection Efficiency

29.1%

Validation Efficiency

90% (104/115)

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,184,683 (GRCm39)	I24V	probably benign	Het
Col4a2	T	C	8: 11,458,872 (GRCm39)		probably benign	Homo
Cyp3a13	C	T	5: 137,897,085 (GRCm39)	E410K	possibly damaging	Het
Gm20518	A	T	16: 17,654,509 (GRCm39)		probably benign	Homo
Nbea	T	A	3: 55,994,918 (GRCm39)	D166V	probably damaging	Het
Or5au1	T	A	14: 52,273,434 (GRCm39)	M45L	probably benign	Het
Plxna4	T	A	6: 32,169,207 (GRCm39)	D1330V	probably damaging	Het
Ppl	A	G	16: 4,905,070 (GRCm39)	S1742P	probably damaging	Homo
Samd4	T	A	14: 47,253,776 (GRCm39)	I80N	probably damaging	Het
Spinkl	T	A	18: 44,302,173 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 86,071,018 (GRCm39)	I1297N	probably damaging	Het

Other mutations in Or6c88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01867:Or6c88	APN	10	129,406,696 (GRCm39)	missense	possibly damaging	0.95
IGL02157:Or6c88	APN	10	129,407,019 (GRCm39)	missense	probably damaging	1.00
IGL02804:Or6c88	APN	10	129,407,306 (GRCm39)	missense	possibly damaging	0.60
IGL02833:Or6c88	APN	10	129,406,619 (GRCm39)	missense	probably benign	0.26
IGL02930:Or6c88	APN	10	129,407,184 (GRCm39)	missense	probably damaging	1.00
IGL03038:Or6c88	APN	10	129,406,790 (GRCm39)	missense	probably benign	0.07
R1539:Or6c88	UTSW	10	129,406,640 (GRCm39)	missense	probably damaging	0.99
R1737:Or6c88	UTSW	10	129,406,697 (GRCm39)	missense	probably damaging	1.00
R1845:Or6c88	UTSW	10	129,407,217 (GRCm39)	missense	probably damaging	1.00
R2198:Or6c88	UTSW	10	129,406,915 (GRCm39)	nonsense	probably null
R3086:Or6c88	UTSW	10	129,407,276 (GRCm39)	missense	probably damaging	1.00
R4960:Or6c88	UTSW	10	129,406,895 (GRCm39)	missense	probably damaging	1.00
R5938:Or6c88	UTSW	10	129,407,396 (GRCm39)	missense	probably damaging	1.00
R6326:Or6c88	UTSW	10	129,406,571 (GRCm39)	missense	possibly damaging	0.74
R6598:Or6c88	UTSW	10	129,407,238 (GRCm39)	missense	probably damaging	1.00
R7034:Or6c88	UTSW	10	129,406,941 (GRCm39)	missense	possibly damaging	0.91
R7066:Or6c88	UTSW	10	129,407,373 (GRCm39)	missense	probably damaging	1.00
R7226:Or6c88	UTSW	10	129,406,584 (GRCm39)	missense	probably benign	0.01
R7324:Or6c88	UTSW	10	129,406,718 (GRCm39)	missense	probably damaging	1.00
R7408:Or6c88	UTSW	10	129,406,493 (GRCm39)	start gained	probably benign
R7779:Or6c88	UTSW	10	129,407,180 (GRCm39)	missense	probably damaging	1.00
R8733:Or6c88	UTSW	10	129,406,579 (GRCm39)	missense	possibly damaging	0.90
R8891:Or6c88	UTSW	10	129,407,046 (GRCm39)	missense	probably damaging	0.99
R8931:Or6c88	UTSW	10	129,406,550 (GRCm39)	missense	probably benign	0.09
R9310:Or6c88	UTSW	10	129,406,687 (GRCm39)	missense	probably benign	0.00
R9681:Or6c88	UTSW	10	129,406,664 (GRCm39)	missense	probably damaging	1.00
Z1176:Or6c88	UTSW	10	129,407,105 (GRCm39)	nonsense	probably null

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to T transversion at position 514 of the Olfr794 transcript. The mutated nucleotide causes an isoleucine to phenylalanine substitution at amino acid 172 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Olfr794 gene encodes the 320 amino acid olfactory receptor 794. Olfactory receptors are G-protein coupled receptors (GPCRs) and usually contain seven transmembrane domains.

The I172F change is predicted to be probably damaging by the PolyPhen program.

Posted On

2010-11-02