Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Olfr320'

153765

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr320

Ensembl Gene

ENSMUSG00000107711

Gene Name

olfactory receptor 320

Synonyms

GA_x6K02T2NKPP-730312-729392, GA_x6K02T2NKPP-733777-732813, MOR285-4, MOR285-5, Olfr320, Olfr321-ps1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

58681099-58686233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58684269 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 132 (Y132C)

Ref Sequence

ENSEMBL: ENSMUSP00000150051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000204718] [ENSMUST00000214662]

Predicted Effect

probably damaging
Transcript: ENSMUST00000082307
AA Change: Y132C

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

SMART Domains

Protein: ENSMUSP00000080924
Gene: ENSMUSG00000061344
AA Change: Y132C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	8.4e-45	PFAM
Pfam:7tm_1	41	290	1.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122047

Predicted Effect

probably damaging
Transcript: ENSMUST00000204718
AA Change: Y132C

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

SMART Domains

Protein: ENSMUSP00000145531
Gene: ENSMUSG00000107711
AA Change: Y132C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	8.4e-45	PFAM
Pfam:7tm_1	41	290	1.1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214662
AA Change: Y132C

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Olfr320

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02293:Olfr320	APN	11	58684170	missense	probably benign	0.01
IGL03001:Olfr320	APN	11	58683876	start codon destroyed	probably null	1.00
IGL03039:Olfr320	APN	11	58684011	missense	probably damaging	0.98
R0064:Olfr320	UTSW	11	58684475	missense	probably benign	0.00
R1506:Olfr320	UTSW	11	58684188	missense	probably benign	0.13
R4255:Olfr320	UTSW	11	58683965	missense	probably damaging	1.00
R4345:Olfr320	UTSW	11	58683945	missense	possibly damaging	0.63
R4646:Olfr320	UTSW	11	58684730	missense	probably damaging	0.99
R4951:Olfr320	UTSW	11	58684763	missense	probably damaging	0.98
R5591:Olfr320	UTSW	11	58684125	missense	probably benign	0.36
R6244:Olfr320	UTSW	11	58684004	missense	possibly damaging	0.53
R6325:Olfr320	UTSW	11	58684528	nonsense	probably null
R7894:Olfr320	UTSW	11	58684674	missense	possibly damaging	0.94

Posted On

2014-02-04