Incidental Mutation 'IGL01097:Or2f2'
ID 51304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2f2
Ensembl Gene ENSMUSG00000094192
Gene Name olfactory receptor family 2 subfamily F member 2
Synonyms MOR257-5P, GA_x6K02T2P3E9-4769843-4768890, Olfr452
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL01097
Quality Score
Status
Chromosome 6
Chromosomal Location 42766975-42767928 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 42767077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 35 (Y35D)
Ref Sequence ENSEMBL: ENSMUSP00000151882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075468] [ENSMUST00000214465] [ENSMUST00000215719] [ENSMUST00000217701]
AlphaFold Q7TRV8
Predicted Effect probably damaging
Transcript: ENSMUST00000075468
AA Change: Y35D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074914
Gene: ENSMUSG00000094192
AA Change: Y35D

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.8e-52 PFAM
Pfam:7tm_1 41 290 2.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214465
AA Change: Y35D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215719
AA Change: Y35D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217701
AA Change: Y35D

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,486,505 (GRCm39) A75V probably damaging Het
Bud23 G A 5: 135,089,935 (GRCm39) A86V probably damaging Het
Dnajc5 T C 2: 181,189,149 (GRCm39) Y42H probably benign Het
Fchsd1 T C 18: 38,100,810 (GRCm39) probably null Het
Fnbp4 C A 2: 90,606,694 (GRCm39) A835D possibly damaging Het
Gm57859 T C 11: 113,583,296 (GRCm39) I541T probably benign Het
Grin2d A T 7: 45,502,716 (GRCm39) N718K probably damaging Het
Gsdma3 A G 11: 98,528,398 (GRCm39) K357E probably damaging Het
Impg2 T A 16: 56,081,010 (GRCm39) probably null Het
Lrrtm2 A T 18: 35,345,994 (GRCm39) I436N probably damaging Het
Mterf2 T A 10: 84,955,677 (GRCm39) I316L probably damaging Het
Nav2 G A 7: 49,220,942 (GRCm39) A1710T probably damaging Het
Nrros A G 16: 31,963,003 (GRCm39) V338A possibly damaging Het
Or52a20 G T 7: 103,366,328 (GRCm39) V176F probably benign Het
Pappa2 T C 1: 158,684,718 (GRCm39) Y807C probably damaging Het
Slc44a4 T C 17: 35,140,545 (GRCm39) L246P probably damaging Het
Stat6 T C 10: 127,490,801 (GRCm39) S407P probably damaging Het
Ttpal T C 2: 163,449,240 (GRCm39) Y32H probably damaging Het
Zfp523 A G 17: 28,420,023 (GRCm39) K223E possibly damaging Het
Other mutations in Or2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02134:Or2f2 APN 6 42,767,398 (GRCm39) missense probably benign
IGL02900:Or2f2 APN 6 42,767,808 (GRCm39) nonsense probably null
IGL03115:Or2f2 APN 6 42,767,599 (GRCm39) missense probably benign 0.07
R0441:Or2f2 UTSW 6 42,767,108 (GRCm39) missense probably damaging 0.99
R0504:Or2f2 UTSW 6 42,767,530 (GRCm39) nonsense probably null
R1191:Or2f2 UTSW 6 42,767,451 (GRCm39) missense probably benign 0.00
R1912:Or2f2 UTSW 6 42,767,411 (GRCm39) missense probably benign 0.01
R4579:Or2f2 UTSW 6 42,767,458 (GRCm39) missense probably benign 0.04
R4911:Or2f2 UTSW 6 42,767,138 (GRCm39) missense probably damaging 1.00
R7003:Or2f2 UTSW 6 42,767,399 (GRCm39) missense probably benign 0.18
R7949:Or2f2 UTSW 6 42,767,588 (GRCm39) missense possibly damaging 0.79
R8420:Or2f2 UTSW 6 42,767,644 (GRCm39) missense possibly damaging 0.73
R9061:Or2f2 UTSW 6 42,767,141 (GRCm39) missense probably damaging 1.00
R9508:Or2f2 UTSW 6 42,767,928 (GRCm39) makesense probably null
X0028:Or2f2 UTSW 6 42,767,453 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21