Incidental Mutation 'IGL03326:Olfr487'
ID416636
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: 0.115) question?
Stock #IGL03326
Quality Score
Status
Chromosome7
Chromosomal Location108208868-108214636 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108211630 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 300 (I300V)
Ref Sequence ENSEMBL: ENSMUSP00000149407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081996] [ENSMUST00000216489]
Predicted Effect probably benign
Transcript: ENSMUST00000081996
AA Change: I300V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: I300V

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 6.1e-50 PFAM
Pfam:7tm_1 44 293 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216489
AA Change: I300V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,127,421 S563P probably damaging Het
Adamtsl1 A T 4: 86,252,748 probably benign Het
Ampd2 T A 3: 108,079,287 Y227F probably benign Het
Cyp2c67 A T 19: 39,643,269 probably null Het
Gk5 G A 9: 96,137,839 probably null Het
Gm20422 T C 8: 69,766,698 T59A possibly damaging Het
Gria1 A T 11: 57,317,773 K831N probably damaging Het
Hspa5 C A 2: 34,776,117 probably benign Het
Igtp A G 11: 58,206,228 D75G probably benign Het
Jmjd8 T C 17: 25,829,165 probably null Het
Kcnh2 A T 5: 24,326,413 F158Y probably damaging Het
Kmt2a A T 9: 44,818,747 C456* probably null Het
Krtap5-2 A T 7: 142,175,363 C193* probably null Het
Mrpl2 T C 17: 46,649,927 V249A possibly damaging Het
Obscn A T 11: 59,032,902 I6433N probably damaging Het
Olfr1137 A C 2: 87,711,695 D70E probably damaging Het
Olfr243 T A 7: 103,716,862 F89L probably benign Het
Plb1 C T 5: 32,331,327 T985I probably benign Het
Polr3b T C 10: 84,667,395 I392T probably benign Het
Ppp1r1c A T 2: 79,808,383 N107I probably benign Het
Ppp1r3a C T 6: 14,719,766 R383Q probably damaging Het
Ptpre T C 7: 135,672,817 I499T probably damaging Het
Rapgef2 A G 3: 79,091,833 I544T probably damaging Het
Rbm20 A T 19: 53,814,000 Q313L possibly damaging Het
Rnf38 A T 4: 44,149,182 I55N probably benign Het
Rtel1 T C 2: 181,355,561 probably benign Het
Scube1 T C 15: 83,607,416 Y959C probably damaging Het
Selenow A G 7: 15,920,126 probably benign Het
Tbx5 T C 5: 119,871,298 Y291H probably damaging Het
Tln2 A T 9: 67,334,257 M1022K possibly damaging Het
Tmtc4 G A 14: 122,945,540 R249W probably damaging Het
Trim34a A G 7: 104,261,380 Q463R probably benign Het
Vps35 C A 8: 85,274,897 E431* probably null Het
Wdpcp T C 11: 21,885,048 C684R probably benign Het
Xirp2 G A 2: 67,482,246 V20I probably benign Het
Other mutations in Olfr487
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Olfr487 APN 7 108211726 missense probably benign 0.06
IGL03133:Olfr487 APN 7 108212387 missense possibly damaging 0.94
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
Posted On2016-08-02