Incidental Mutation 'IGL00934:Or2f1'
ID 27637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2f1
Ensembl Gene ENSMUSG00000095831
Gene Name olfactory receptor family 2 subfamily F member 1
Synonyms MOR257-8P, Olfr453, GA_x6K02T2P3E9-4815856-4814903
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL00934
Quality Score
Status
Chromosome 6
Chromosomal Location 42720973-42721926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42721625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 218 (Y218F)
Ref Sequence ENSEMBL: ENSMUSP00000150467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053647] [ENSMUST00000213997]
AlphaFold Q7TRV7
Predicted Effect probably damaging
Transcript: ENSMUST00000053647
AA Change: Y218F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052043
Gene: ENSMUSG00000095831
AA Change: Y218F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-54 PFAM
Pfam:7tm_1 41 290 1.8e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203812
Predicted Effect probably damaging
Transcript: ENSMUST00000213997
AA Change: Y218F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A T 3: 59,659,474 (GRCm39) Y309F probably benign Het
Acrv1 T A 9: 36,605,688 (GRCm39) H78Q possibly damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Ccr1 A G 9: 123,763,777 (GRCm39) L251P probably damaging Het
Dgkb G A 12: 38,477,455 (GRCm39) A622T probably damaging Het
Fat4 C A 3: 38,944,822 (GRCm39) D1238E probably damaging Het
Gfpt2 G T 11: 49,699,950 (GRCm39) V102F probably benign Het
Kif2a A C 13: 107,105,301 (GRCm39) probably benign Het
Klk1b9 T C 7: 43,627,878 (GRCm39) W59R probably damaging Het
Lonp1 T C 17: 56,921,683 (GRCm39) T875A probably benign Het
Mical2 A G 7: 111,948,610 (GRCm39) Y802C probably damaging Het
Neurl1b C A 17: 26,651,152 (GRCm39) D141E probably damaging Het
Or51b17 G T 7: 103,542,071 (GRCm39) Y290* probably null Het
Pcdhga3 A G 18: 37,808,486 (GRCm39) E313G possibly damaging Het
Usp32 A T 11: 84,897,902 (GRCm39) D1146E probably damaging Het
Other mutations in Or2f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Or2f1 APN 6 42,721,486 (GRCm39) missense probably benign 0.00
IGL02703:Or2f1 APN 6 42,721,010 (GRCm39) missense possibly damaging 0.90
IGL03018:Or2f1 APN 6 42,721,748 (GRCm39) missense probably damaging 1.00
R1163:Or2f1 UTSW 6 42,721,057 (GRCm39) missense probably benign 0.00
R1728:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R1729:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R1730:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R1739:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R1784:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R2014:Or2f1 UTSW 6 42,721,784 (GRCm39) missense probably damaging 0.99
R2015:Or2f1 UTSW 6 42,721,784 (GRCm39) missense probably damaging 0.99
R2130:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R2132:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R2133:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R3937:Or2f1 UTSW 6 42,721,010 (GRCm39) missense probably damaging 0.98
R4862:Or2f1 UTSW 6 42,721,489 (GRCm39) missense possibly damaging 0.65
R4959:Or2f1 UTSW 6 42,721,621 (GRCm39) missense probably damaging 1.00
R4973:Or2f1 UTSW 6 42,721,621 (GRCm39) missense probably damaging 1.00
R5155:Or2f1 UTSW 6 42,721,748 (GRCm39) missense probably damaging 1.00
R6581:Or2f1 UTSW 6 42,721,013 (GRCm39) missense probably damaging 1.00
R7028:Or2f1 UTSW 6 42,721,337 (GRCm39) missense probably benign 0.08
R7348:Or2f1 UTSW 6 42,721,790 (GRCm39) missense possibly damaging 0.95
R7490:Or2f1 UTSW 6 42,721,739 (GRCm39) missense probably damaging 1.00
R7522:Or2f1 UTSW 6 42,721,568 (GRCm39) missense probably damaging 0.98
R8373:Or2f1 UTSW 6 42,721,280 (GRCm39) missense probably damaging 0.99
R9224:Or2f1 UTSW 6 42,721,904 (GRCm39) missense probably benign 0.30
Posted On 2013-04-17