Incidental Mutation 'IGL02154:Or52e8'
ID 282149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52e8
Ensembl Gene ENSMUSG00000094531
Gene Name olfactory receptor family 52 subfamily E member 8
Synonyms MOR32-12, Olfr671, GA_x6K02T2PBJ9-7604826-7603885
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02154
Quality Score
Status
Chromosome 7
Chromosomal Location 104621683-104625202 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) C to T at 104625188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000077774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078710] [ENSMUST00000210963] [ENSMUST00000217091]
AlphaFold A0A1B0GSN5
Predicted Effect probably null
Transcript: ENSMUST00000078710
AA Change: M1I

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531
AA Change: M1I

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.4e-117 PFAM
Pfam:7TM_GPCR_Srsx 37 308 3.7e-7 PFAM
Pfam:7tm_1 43 293 1.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210963
AA Change: M5I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000217091
AA Change: M5I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armh4 G A 14: 50,010,399 (GRCm39) T436I possibly damaging Het
AW551984 G A 9: 39,500,398 (GRCm39) R787C possibly damaging Het
Cadm1 A T 9: 47,725,201 (GRCm39) I321L probably benign Het
Cfap57 A G 4: 118,470,214 (GRCm39) L222P probably damaging Het
Cox20 A G 1: 178,150,119 (GRCm39) I98V probably benign Het
Dmrta1 A G 4: 89,580,150 (GRCm39) N370S probably benign Het
Dnah17 A G 11: 118,015,087 (GRCm39) F386L probably benign Het
Fam135b T C 15: 71,320,559 (GRCm39) I1323V probably benign Het
Fndc3b A G 3: 27,592,266 (GRCm39) S211P probably damaging Het
Galnt10 T G 11: 57,675,531 (GRCm39) L597V probably damaging Het
Gtf2e2 T C 8: 34,245,989 (GRCm39) probably null Het
Inpp4b T A 8: 82,696,130 (GRCm39) probably benign Het
Irag2 T G 6: 145,083,967 (GRCm39) M44R possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Mdn1 A G 4: 32,740,395 (GRCm39) D3750G probably benign Het
Mme A T 3: 63,250,976 (GRCm39) Q339L probably benign Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Myrf A T 19: 10,193,482 (GRCm39) I558N probably damaging Het
Phb1 A G 11: 95,565,997 (GRCm39) I94V possibly damaging Het
Prg4 T A 1: 150,330,613 (GRCm39) probably benign Het
Sirpb1a T C 3: 15,475,504 (GRCm39) T344A probably damaging Het
Skap2 T C 6: 51,989,308 (GRCm39) probably benign Het
Slc29a1 A G 17: 45,897,089 (GRCm39) I399T probably damaging Het
Sorl1 C T 9: 41,915,330 (GRCm39) V1300I probably benign Het
Tas2r117 T C 6: 132,780,678 (GRCm39) V272A probably benign Het
Tctn2 C A 5: 124,746,624 (GRCm39) noncoding transcript Het
Tmem51 T C 4: 141,759,089 (GRCm39) N220D probably damaging Het
Trak2 T C 1: 58,947,888 (GRCm39) D584G probably damaging Het
Vmn1r78 A G 7: 11,886,472 (GRCm39) I28V probably benign Het
Vmn2r95 A C 17: 18,672,248 (GRCm39) I662L probably benign Het
Vwa8 C A 14: 79,086,733 (GRCm39) R4S possibly damaging Het
Other mutations in Or52e8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Or52e8 APN 7 104,625,193 (GRCm39) splice site probably null
IGL02308:Or52e8 APN 7 104,624,665 (GRCm39) missense possibly damaging 0.84
IGL02794:Or52e8 APN 7 104,624,596 (GRCm39) missense probably benign
R0919:Or52e8 UTSW 7 104,624,519 (GRCm39) nonsense probably null
R1819:Or52e8 UTSW 7 104,624,605 (GRCm39) missense probably benign 0.01
R1972:Or52e8 UTSW 7 104,625,106 (GRCm39) missense possibly damaging 0.63
R2025:Or52e8 UTSW 7 104,624,451 (GRCm39) missense probably benign 0.01
R4910:Or52e8 UTSW 7 104,624,686 (GRCm39) missense possibly damaging 0.88
R5442:Or52e8 UTSW 7 104,624,435 (GRCm39) missense possibly damaging 0.80
R5554:Or52e8 UTSW 7 104,625,189 (GRCm39) start codon destroyed probably null 0.99
R5932:Or52e8 UTSW 7 104,624,862 (GRCm39) missense probably damaging 1.00
R6683:Or52e8 UTSW 7 104,625,175 (GRCm39) missense probably benign
R6962:Or52e8 UTSW 7 104,624,580 (GRCm39) missense probably benign 0.00
R7000:Or52e8 UTSW 7 104,624,338 (GRCm39) missense probably damaging 1.00
R7059:Or52e8 UTSW 7 104,625,224 (GRCm39) splice site probably null
R7276:Or52e8 UTSW 7 104,624,857 (GRCm39) missense possibly damaging 0.62
R7425:Or52e8 UTSW 7 104,624,268 (GRCm39) nonsense probably null
R7688:Or52e8 UTSW 7 104,624,332 (GRCm39) missense possibly damaging 0.60
R8043:Or52e8 UTSW 7 104,625,080 (GRCm39) nonsense probably null
R8074:Or52e8 UTSW 7 104,624,934 (GRCm39) missense probably damaging 1.00
R8432:Or52e8 UTSW 7 104,625,199 (GRCm39) missense probably benign
R8705:Or52e8 UTSW 7 104,624,446 (GRCm39) missense possibly damaging 0.95
R8757:Or52e8 UTSW 7 104,624,325 (GRCm39) missense probably damaging 1.00
R8759:Or52e8 UTSW 7 104,624,325 (GRCm39) missense probably damaging 1.00
R9489:Or52e8 UTSW 7 104,624,856 (GRCm39) missense probably damaging 1.00
R9597:Or52e8 UTSW 7 104,624,413 (GRCm39) missense probably benign 0.19
Posted On 2015-04-16