Incidental Mutation 'D3080:Olfr523'
ID123
Institutional Source Beutler Lab
Gene Symbol Olfr523
Ensembl Gene ENSMUSG00000051051
Gene Nameolfactory receptor 523
SynonymsMOR104-4, GA_x6K02T2PBJ9-42327937-42328872
Accession Numbers

Genbank: NM_146518; MGI: 3030357

Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #D3080 of strain grasshopper
Quality Score
Status Validated
Chromosome7
Chromosomal Location140173217-140178758 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 140176362 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 81 (V81M)
Ref Sequence ENSEMBL: ENSMUSP00000149562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055890] [ENSMUST00000209314] [ENSMUST00000213953] [ENSMUST00000214272] [ENSMUST00000215785] [ENSMUST00000216023]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055890
AA Change: V87M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052678
Gene: ENSMUSG00000051051
AA Change: V87M

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
Pfam:7tm_4 40 317 1.6e-50 PFAM
Pfam:7tm_1 50 299 1.6e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209314
AA Change: V81M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213953
AA Change: V81M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214272
AA Change: V81M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215785
AA Change: V81M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216023
AA Change: V81M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.2470 question?
Coding Region Coverage
  • 1x: 88.9%
  • 3x: 76.7%
Validation Efficiency 82% (141/173)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C A 5: 87,971,987 P201Q possibly damaging Het
Bdp1 A T 13: 100,023,621 S2417R probably benign Het
Dscaml1 A T 9: 45,684,325 H783L probably benign Het
Fbxl5 A T 5: 43,758,366 M568K probably benign Het
Gab1 T A 8: 80,766,378 D710V probably damaging Homo
Gabrr2 T C 4: 33,084,466 F128S probably damaging Het
Gm8251 C A 1: 44,067,335 Het
Hyou1 T A 9: 44,384,477 V343E probably damaging Het
Nlrp4a A G 7: 26,444,341 T44A probably benign Het
Nsd3 C A 8: 25,713,545 T1362N possibly damaging Homo
Pcm1 T A 8: 41,275,939 N649K probably damaging Homo
Pde4dip T C 3: 97,766,830 K257E probably damaging Het
Pfpl G A 19: 12,428,832 R149Q probably damaging Homo
Pou2f2 G T 7: 25,097,133 probably benign Het
Rptn A G 3: 93,395,828 D156G possibly damaging Het
Sec31a T C 5: 100,363,832 D1107G probably damaging Het
Smyd3 A G 1: 179,086,422 Y239H probably damaging Het
Stoml3 T C 3: 53,497,994 F32S probably benign Het
Tnnc1 C A 14: 31,210,190 D62E probably damaging Homo
Vsig10 C T 5: 117,343,819 A358V probably damaging Het
Other mutations in Olfr523
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Olfr523 APN 7 140176615 missense probably damaging 1.00
IGL01759:Olfr523 APN 7 140176534 missense probably benign 0.00
R0503:Olfr523 UTSW 7 140176441 missense possibly damaging 0.95
R1644:Olfr523 UTSW 7 140176648 missense probably benign 0.12
R1760:Olfr523 UTSW 7 140176275 missense probably damaging 1.00
R1852:Olfr523 UTSW 7 140176561 nonsense probably null
R1960:Olfr523 UTSW 7 140176683 missense probably benign 0.37
R2363:Olfr523 UTSW 7 140176965 missense probably damaging 1.00
R3700:Olfr523 UTSW 7 140176214 missense possibly damaging 0.54
R4626:Olfr523 UTSW 7 140176446 missense probably damaging 1.00
R4678:Olfr523 UTSW 7 140176228 missense probably benign 0.21
R4779:Olfr523 UTSW 7 140176450 missense probably damaging 1.00
R4999:Olfr523 UTSW 7 140177020 missense probably damaging 1.00
R5663:Olfr523 UTSW 7 140176321 missense probably damaging 1.00
R7352:Olfr523 UTSW 7 140176525 missense probably damaging 1.00
R8525:Olfr523 UTSW 7 140176342 missense probably damaging 0.99
Nature of Mutation
DNA sequencing using the SOLiD technique identified a G to A transition at position 259 of the Olfr523 transcript in the single exon. The mutated nucleotide causes a valine to methionine substitution at amino acid 87 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Olfr523 gene encodes a 317 amino acid olfactory that belongs to the G-protein coupled receptor (GPCR) superfamily and contains the characteristic seven transmembrane domains.
 
The V87M change is predicted to be benign by the PolyPhen program.
Posted On2010-03-12