Incidental Mutation 'IGL01522:Olfr547'
ID 89429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr547
Ensembl Gene ENSMUSG00000073979
Gene Name olfactory receptor 547
Synonyms GA_x6K02T2PBJ9-5256044-5256988, MOR31-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL01522
Quality Score
Chromosome 7
Chromosomal Location 102534749-102535684 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102535184 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 146 (I146F)
Ref Sequence ENSEMBL: ENSMUSP00000095831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098229]
AlphaFold E9PXN3
Predicted Effect probably damaging
Transcript: ENSMUST00000098229
AA Change: I146F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095831
Gene: ENSMUSG00000073979
AA Change: I146F

Pfam:7tm_4 33 311 1.1e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 277 6.7e-10 PFAM
Pfam:7tm_1 43 294 1.2e-20 PFAM
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Olfr547
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Olfr547 APN 7 102534933 missense probably benign 0.31
IGL02182:Olfr547 APN 7 102535568 missense probably benign 0.00
IGL02669:Olfr547 APN 7 102535661 missense probably benign
IGL03139:Olfr547 APN 7 102535310 missense possibly damaging 0.95
FR4976:Olfr547 UTSW 7 102535681 makesense probably null
R1246:Olfr547 UTSW 7 102534942 missense probably damaging 1.00
R2884:Olfr547 UTSW 7 102535232 missense probably benign 0.03
R3852:Olfr547 UTSW 7 102535280 missense probably benign 0.01
R4686:Olfr547 UTSW 7 102535149 missense probably damaging 1.00
R4879:Olfr547 UTSW 7 102534755 missense probably benign 0.00
R6169:Olfr547 UTSW 7 102535272 missense probably benign 0.02
R6213:Olfr547 UTSW 7 102534932 missense probably damaging 1.00
R7080:Olfr547 UTSW 7 102534965 missense possibly damaging 0.91
R7966:Olfr547 UTSW 7 102535416 missense probably damaging 1.00
R8510:Olfr547 UTSW 7 102534963 missense probably damaging 1.00
Posted On 2013-12-03