Incidental Mutation 'D3080:Or6f2'
ID 123
Institutional Source Beutler Lab
Gene Symbol Or6f2
Ensembl Gene ENSMUSG00000051051
Gene Name olfactory receptor family 6 subfamily F member 2
Synonyms Olfr523, GA_x6K02T2PBJ9-42327937-42328872, MOR104-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # D3080 of strain grasshopper
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 139756017-139756970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139756275 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8VFE7
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: 88,119,846 (GRCm39) P201Q possibly damaging Het
Bdp1 A T 13: 100,160,129 (GRCm39) S2417R probably benign Het
Ccdc168 C A 1: 44,106,495 (GRCm39) Het
Dscaml1 A T 9: 45,595,623 (GRCm39) H783L probably benign Het
Fbxl5 A T 5: 43,915,708 (GRCm39) M568K probably benign Het
Gab1 T A 8: 81,493,007 (GRCm39) D710V probably damaging Homo
Gabrr2 T C 4: 33,084,466 (GRCm39) F128S probably damaging Het
Hyou1 T A 9: 44,295,774 (GRCm39) V343E probably damaging Het
Nlrp4a A G 7: 26,143,766 (GRCm39) T44A probably benign Het
Nsd3 C A 8: 26,203,572 (GRCm39) T1362N possibly damaging Homo
Pcm1 T A 8: 41,728,976 (GRCm39) N649K probably damaging Homo
Pde4dip T C 3: 97,674,146 (GRCm39) K257E probably damaging Het
Pfpl G A 19: 12,406,196 (GRCm39) R149Q probably damaging Homo
Pou2f2 G T 7: 24,796,558 (GRCm39) probably benign Het
Rptn A G 3: 93,303,135 (GRCm39) D156G possibly damaging Het
Sec31a T C 5: 100,511,691 (GRCm39) D1107G probably damaging Het
Smyd3 A G 1: 178,913,987 (GRCm39) Y239H probably damaging Het
Stoml3 T C 3: 53,405,415 (GRCm39) F32S probably benign Het
Tnnc1 C A 14: 30,932,147 (GRCm39) D62E probably damaging Homo
Vsig10 C T 5: 117,481,884 (GRCm39) A358V probably damaging Het
Other mutations in Or6f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Or6f2 APN 7 139,756,528 (GRCm39) missense probably damaging 1.00
IGL01759:Or6f2 APN 7 139,756,447 (GRCm39) missense probably benign 0.00
R0503:Or6f2 UTSW 7 139,756,354 (GRCm39) missense possibly damaging 0.95
R1644:Or6f2 UTSW 7 139,756,561 (GRCm39) missense probably benign 0.12
R1760:Or6f2 UTSW 7 139,756,188 (GRCm39) missense probably damaging 1.00
R1852:Or6f2 UTSW 7 139,756,474 (GRCm39) nonsense probably null
R1960:Or6f2 UTSW 7 139,756,596 (GRCm39) missense probably benign 0.37
R2363:Or6f2 UTSW 7 139,756,878 (GRCm39) missense probably damaging 1.00
R3700:Or6f2 UTSW 7 139,756,127 (GRCm39) missense possibly damaging 0.54
R4626:Or6f2 UTSW 7 139,756,359 (GRCm39) missense probably damaging 1.00
R4678:Or6f2 UTSW 7 139,756,141 (GRCm39) missense probably benign 0.21
R4779:Or6f2 UTSW 7 139,756,363 (GRCm39) missense probably damaging 1.00
R4999:Or6f2 UTSW 7 139,756,933 (GRCm39) missense probably damaging 1.00
R5663:Or6f2 UTSW 7 139,756,234 (GRCm39) missense probably damaging 1.00
R7352:Or6f2 UTSW 7 139,756,438 (GRCm39) missense probably damaging 1.00
R8525:Or6f2 UTSW 7 139,756,255 (GRCm39) missense probably damaging 0.99
R8976:Or6f2 UTSW 7 139,756,885 (GRCm39) missense probably damaging 0.96
R9034:Or6f2 UTSW 7 139,756,884 (GRCm39) missense probably benign 0.08
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 On 2010-03-12