Incidental Mutation 'IGL03381:Or52a5b'
ID 420675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52a5b
Ensembl Gene ENSMUSG00000058662
Gene Name olfactory receptor family 52 subfamily A member 5B
Synonyms MOR22-2, GA_x6K02T2PBJ9-6494485-6493535, 3'[b]3, Olfr69
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL03381
Quality Score
Status
Chromosome 7
Chromosomal Location 103416484-103420801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103417044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 187 (I187V)
Ref Sequence ENSEMBL: ENSMUSP00000102491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106878]
AlphaFold E9Q7C5
Predicted Effect probably benign
Transcript: ENSMUST00000106878
AA Change: I187V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102491
Gene: ENSMUSG00000058662
AA Change: I187V

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 1.9e-101 PFAM
Pfam:7TM_GPCR_Srx 34 237 1.1e-7 PFAM
Pfam:7TM_GPCR_Srsx 37 260 3.6e-7 PFAM
Pfam:7tm_1 43 295 6.6e-15 PFAM
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik T C 17: 47,200,812 (GRCm39) probably benign Het
Abca16 T C 7: 120,127,041 (GRCm39) F1243S probably benign Het
Adgrv1 A G 13: 81,666,086 (GRCm39) V1990A probably damaging Het
Arhgdib G A 6: 136,909,314 (GRCm39) T69I probably benign Het
Atf2 G A 2: 73,659,012 (GRCm39) A214V probably benign Het
Ccr2 G A 9: 123,906,409 (GRCm39) V230I probably benign Het
Cnksr1 T C 4: 133,959,482 (GRCm39) E384G probably damaging Het
Epha5 T A 5: 84,479,191 (GRCm39) D271V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gpr15 A G 16: 58,538,339 (GRCm39) F250S probably damaging Het
Gzmf A T 14: 56,444,450 (GRCm39) V41E probably benign Het
H2-T10 C T 17: 36,430,246 (GRCm39) D232N probably benign Het
H2-T10 T A 17: 36,430,249 (GRCm39) K231* probably null Het
Hsd3b6 A G 3: 98,715,128 (GRCm39) V88A possibly damaging Het
Kit C T 5: 75,767,788 (GRCm39) T57M probably benign Het
Klhl22 A G 16: 17,610,591 (GRCm39) D614G possibly damaging Het
Matr3 T A 18: 35,712,078 (GRCm39) probably benign Het
Mff A G 1: 82,719,661 (GRCm39) Y213C probably damaging Het
Mrnip A G 11: 50,090,417 (GRCm39) T194A probably benign Het
Msh6 T C 17: 88,292,537 (GRCm39) F431L probably damaging Het
Mttp G A 3: 137,810,704 (GRCm39) R637C probably damaging Het
Nlrc3 A G 16: 3,782,179 (GRCm39) V410A probably benign Het
Or4c120 A G 2: 89,001,523 (GRCm39) I11T possibly damaging Het
Or5b108 T A 19: 13,168,769 (GRCm39) V246D probably damaging Het
Pramel21 T C 4: 143,343,625 (GRCm39) probably benign Het
Psip1 T C 4: 83,404,022 (GRCm39) T2A probably benign Het
Rbm33 T C 5: 28,599,390 (GRCm39) F921L unknown Het
Rhbdl2 T C 4: 123,716,610 (GRCm39) V189A possibly damaging Het
Rpap2 C T 5: 107,768,067 (GRCm39) P302S probably benign Het
Sec23ip T A 7: 128,352,029 (GRCm39) V32D probably damaging Het
Sh3yl1 T C 12: 30,976,836 (GRCm39) I47T possibly damaging Het
Spmip4 T C 6: 50,566,116 (GRCm39) S120G probably damaging Het
Tenm2 A C 11: 35,959,238 (GRCm39) S1104A probably benign Het
Ufd1 A G 16: 18,644,507 (GRCm39) D190G probably damaging Het
Ugt1a7c T C 1: 88,023,512 (GRCm39) F224L probably benign Het
Utp20 G T 10: 88,657,867 (GRCm39) F64L probably damaging Het
Vmn1r198 A G 13: 22,539,006 (GRCm39) Y164C probably benign Het
Wdcp T A 12: 4,901,926 (GRCm39) V594D probably damaging Het
Xirp2 A C 2: 67,344,570 (GRCm39) E2270D probably benign Het
Other mutations in Or52a5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0314:Or52a5b UTSW 7 103,417,388 (GRCm39) missense probably damaging 1.00
R2158:Or52a5b UTSW 7 103,417,168 (GRCm39) nonsense probably null
R4839:Or52a5b UTSW 7 103,416,961 (GRCm39) missense possibly damaging 0.94
R5574:Or52a5b UTSW 7 103,417,323 (GRCm39) missense possibly damaging 0.96
R6025:Or52a5b UTSW 7 103,417,416 (GRCm39) missense probably benign 0.01
R6581:Or52a5b UTSW 7 103,417,428 (GRCm39) missense probably benign 0.01
R6792:Or52a5b UTSW 7 103,417,346 (GRCm39) missense possibly damaging 0.75
R7121:Or52a5b UTSW 7 103,416,940 (GRCm39) nonsense probably null
R7178:Or52a5b UTSW 7 103,417,182 (GRCm39) nonsense probably null
R7378:Or52a5b UTSW 7 103,417,137 (GRCm39) missense probably benign 0.01
R7449:Or52a5b UTSW 7 103,417,026 (GRCm39) missense probably benign
R7573:Or52a5b UTSW 7 103,416,677 (GRCm39) missense probably benign
R9206:Or52a5b UTSW 7 103,417,478 (GRCm39) missense probably benign 0.00
R9208:Or52a5b UTSW 7 103,417,478 (GRCm39) missense probably benign 0.00
R9536:Or52a5b UTSW 7 103,416,779 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02