Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Olfr487'

410397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr487

Ensembl Gene

ENSMUSG00000095929

Gene Name

olfactory receptor 487

Synonyms

MOR204-31P, MOR204-29P, GA_x6K02T2PBJ9-10541702-10540758, Olfr1538-ps1, MOR204-31P

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

108208868-108214636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108212387 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 47 (S47R)

Ref Sequence

ENSEMBL: ENSMUSP00000149407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081996] [ENSMUST00000216489]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081996
AA Change: S47R

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: S47R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	6.1e-50	PFAM
Pfam:7tm_1	44	293	1e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216489
AA Change: S47R

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Ano5	C	T	7: 51,576,512	R505*	probably null	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Ces2h	T	A	8: 105,016,779	D188E	probably damaging	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dcc	A	G	18: 71,262,955		probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Eno1	A	G	4: 150,245,344		probably benign	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Kank2	T	C	9: 21,795,641	E27G	probably null	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,072,768	I763V	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Piwil1	C	A	5: 128,742,029	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Stx7	A	T	10: 24,185,038	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	probably benign	Het

Other mutations in Olfr487

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Olfr487	APN	7	108211726	missense	probably benign	0.06
IGL03326:Olfr487	APN	7	108211630	missense	probably benign	0.03
R0141:Olfr487	UTSW	7	108212003	missense	possibly damaging	0.59
R0344:Olfr487	UTSW	7	108211742	nonsense	probably null
R0595:Olfr487	UTSW	7	108211661	missense	probably damaging	1.00
R1427:Olfr487	UTSW	7	108212094	missense	probably benign	0.07
R2023:Olfr487	UTSW	7	108211842	missense	probably damaging	1.00
R2065:Olfr487	UTSW	7	108212340	missense	probably damaging	0.98
R2068:Olfr487	UTSW	7	108212340	missense	probably damaging	0.98
R3410:Olfr487	UTSW	7	108212283	missense	possibly damaging	0.95
R4024:Olfr487	UTSW	7	108211742	nonsense	probably null
R4619:Olfr487	UTSW	7	108212094	missense	possibly damaging	0.78
R4738:Olfr487	UTSW	7	108211994	missense	probably damaging	0.99
R5004:Olfr487	UTSW	7	108212116	nonsense	probably null
R5684:Olfr487	UTSW	7	108212072	nonsense	probably null
R6782:Olfr487	UTSW	7	108212463	missense	probably benign	0.03
R6889:Olfr487	UTSW	7	108211918	missense	probably benign	0.00
R7010:Olfr487	UTSW	7	108212142	missense	probably damaging	0.98
R7076:Olfr487	UTSW	7	108211998	missense	probably damaging	1.00
R8162:Olfr487	UTSW	7	108211788	missense	probably damaging	1.00
R8190:Olfr487	UTSW	7	108211807	missense	possibly damaging	0.80
Z1177:Olfr487	UTSW	7	108211969	missense	probably benign

Posted On

2016-08-02