Incidental Mutation 'N/A - 293:Or2a7'
ID 24
Institutional Source Beutler Lab
Gene Symbol Or2a7
Ensembl Gene ENSMUSG00000043605
Gene Name olfactory receptor family 2 subfamily A member 7
Synonyms MOR261-6, GA_x6K02T2P3E9-4384160-4383228, Olfr13
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # N/A - 293 of strain aoba
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 43150922-43151854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43151493 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Threonine to Isoleucine at position 191 (T191I)
Ref Sequence ENSEMBL: ENSMUSP00000149893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059512] [ENSMUST00000205175] [ENSMUST00000216179]
AlphaFold P34984
Predicted Effect probably benign
Transcript: ENSMUST00000059512
AA Change: T191I

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053813
Gene: ENSMUSG00000043605
AA Change: T191I

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 4.8e-60 PFAM
Pfam:7TM_GPCR_Srsx 34 218 1.3e-6 PFAM
Pfam:7tm_1 40 289 6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205175
SMART Domains Protein: ENSMUSP00000145490
Gene: ENSMUSG00000071481

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 7.5e-60 PFAM
Pfam:7tm_1 40 289 3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216179
AA Change: T191I

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 88.4%
  • 3x: 74.0%
Validation Efficiency 85% (165/193)
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Exoc1l T C 5: 76,664,339 (GRCm39) S143P probably benign Homo
Gm7634 T A 1: 16,124,084 (GRCm39) noncoding transcript Homo
Kras T A 6: 145,177,940 (GRCm39) M111L probably benign Homo
Lrig1 T C 6: 94,586,068 (GRCm39) T707A probably benign Homo
Mycbp2 A G 14: 103,461,898 (GRCm39) probably benign Homo
Smarcad1 T A 6: 65,051,898 (GRCm39) F344I probably benign Homo
Sprr4 G A 3: 92,407,650 (GRCm39) Q51* probably null Homo
Zeb1 A T 18: 5,767,076 (GRCm39) H529L possibly damaging Homo
Other mutations in Or2a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0279:Or2a7 UTSW 6 43,151,692 (GRCm39) missense probably benign 0.03
R0594:Or2a7 UTSW 6 43,151,541 (GRCm39) missense possibly damaging 0.64
R0669:Or2a7 UTSW 6 43,150,938 (GRCm39) missense probably benign 0.36
R1339:Or2a7 UTSW 6 43,151,544 (GRCm39) missense probably benign 0.39
R1371:Or2a7 UTSW 6 43,151,234 (GRCm39) missense probably benign 0.01
R1669:Or2a7 UTSW 6 43,151,755 (GRCm39) missense probably damaging 1.00
R1832:Or2a7 UTSW 6 43,151,834 (GRCm39) missense probably benign
R2136:Or2a7 UTSW 6 43,151,435 (GRCm39) missense probably benign
R4358:Or2a7 UTSW 6 43,151,160 (GRCm39) missense probably damaging 0.97
R4755:Or2a7 UTSW 6 43,150,977 (GRCm39) missense probably benign 0.00
R4933:Or2a7 UTSW 6 43,151,255 (GRCm39) missense probably benign 0.22
R5504:Or2a7 UTSW 6 43,151,572 (GRCm39) nonsense probably null
R5677:Or2a7 UTSW 6 43,151,265 (GRCm39) missense probably benign 0.35
R5917:Or2a7 UTSW 6 43,151,646 (GRCm39) missense probably damaging 1.00
R6287:Or2a7 UTSW 6 43,151,369 (GRCm39) missense probably benign 0.00
R6480:Or2a7 UTSW 6 43,151,000 (GRCm39) missense probably benign 0.05
R7020:Or2a7 UTSW 6 43,151,096 (GRCm39) missense possibly damaging 0.91
R7240:Or2a7 UTSW 6 43,151,435 (GRCm39) missense probably benign
R8925:Or2a7 UTSW 6 43,151,669 (GRCm39) missense probably benign 0.44
R8927:Or2a7 UTSW 6 43,151,669 (GRCm39) missense probably benign 0.44
R9652:Or2a7 UTSW 6 43,150,991 (GRCm39) missense probably benign
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 572 of the Olfr13 transcript. The mutated nucleotide causes a threonine to isoleucine substitution at amino acid 191 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
Olfr13 encodes the 310 amino acid olfactory receptor 13. Olfactory receptors are G-protein coupled receptors (GPCRs). Like other GPCRs, OLFR13 contains seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus. A conserved disulfide bond is located between amino acids 96 and 178 (Uniprot P34984).
 
The T191I change is located in the third extracellular domain between transmembrane domains 4 and 5.  The mutation is predicted to be benign by the PolyPhen program.
Posted On 2009-11-11