Incidental Mutation 'IGL03133:Olfr487'
ID410397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr487
Ensembl Gene ENSMUSG00000095929
Gene Nameolfactory receptor 487
SynonymsMOR204-31P, 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
Chromosome7
Chromosomal Location108208868-108214636 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 108212387 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2016-08-02