Incidental Mutation 'IGL02448:Or52r1b'
ID 293586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52r1b
Ensembl Gene ENSMUSG00000073961
Gene Name olfactory receptor family 52 subfamily R member 1B
Synonyms MOR30-3, Olfr582, GA_x6K02T2PBJ9-5752857-5753801
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02448
Quality Score
Status
Chromosome 7
Chromosomal Location 102690688-102691647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102691604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 306 (I306T)
Ref Sequence ENSEMBL: ENSMUSP00000095813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098212] [ENSMUST00000210119] [ENSMUST00000211036] [ENSMUST00000214021]
AlphaFold Q8VGV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000098212
AA Change: I306T

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095813
Gene: ENSMUSG00000073961
AA Change: I306T

DomainStartEndE-ValueType
Pfam:7tm_4 38 317 2.2e-109 PFAM
Pfam:7TM_GPCR_Srsx 42 179 1.6e-10 PFAM
Pfam:7tm_1 48 299 1.9e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210119
AA Change: I301T

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211036
AA Change: I301T

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214021
AA Change: I301T

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,786,866 (GRCm39) I286F probably damaging Het
Arhgap5 A G 12: 52,609,123 (GRCm39) E1366G probably damaging Het
Blzf1 T A 1: 164,123,350 (GRCm39) I326F possibly damaging Het
Cc2d2a A C 5: 43,840,547 (GRCm39) probably benign Het
Cdc37 T C 9: 21,051,147 (GRCm39) E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 (GRCm39) S279P probably benign Het
Cdh18 T C 15: 23,173,875 (GRCm39) S30P probably benign Het
Cep192 A G 18: 68,002,518 (GRCm39) T2238A probably benign Het
Cpped1 C T 16: 11,623,253 (GRCm39) E289K probably benign Het
Ctsq A T 13: 61,184,044 (GRCm39) Y293N probably damaging Het
Epb41l2 A G 10: 25,369,493 (GRCm39) N20S possibly damaging Het
Gcc2 T A 10: 58,128,393 (GRCm39) C1304* probably null Het
Hsd3b5 C T 3: 98,529,447 (GRCm39) G61E probably damaging Het
Igfals A T 17: 25,099,161 (GRCm39) N84I probably damaging Het
Irs2 A T 8: 11,057,862 (GRCm39) V190D probably benign Het
Kank1 T A 19: 25,388,739 (GRCm39) L804Q probably damaging Het
Kcnj2 G T 11: 110,963,108 (GRCm39) V167L probably benign Het
Kif20a T C 18: 34,761,507 (GRCm39) V300A possibly damaging Het
Kmt2d T C 15: 98,741,991 (GRCm39) probably benign Het
Moxd1 T C 10: 24,158,617 (GRCm39) F424L probably damaging Het
Mpeg1 A C 19: 12,439,973 (GRCm39) D477A probably benign Het
Mtmr10 A T 7: 63,957,898 (GRCm39) Y166F probably damaging Het
Muc5b T G 7: 141,422,226 (GRCm39) I4454S possibly damaging Het
Ntng1 G A 3: 109,841,875 (GRCm39) probably benign Het
Or7e175 T A 9: 20,048,937 (GRCm39) L175* probably null Het
Pex11a A T 7: 79,387,208 (GRCm39) probably null Het
Plcg2 A G 8: 118,333,960 (GRCm39) D911G probably benign Het
Rc3h2 T C 2: 37,279,817 (GRCm39) T471A probably benign Het
Rif1 T A 2: 52,006,708 (GRCm39) L2214Q probably damaging Het
Rtel1 T A 2: 180,977,830 (GRCm39) S120T probably benign Het
Ryr1 A G 7: 28,804,491 (GRCm39) probably benign Het
Sh3yl1 G T 12: 30,989,666 (GRCm39) A129S probably damaging Het
Slc25a10 A G 11: 120,387,879 (GRCm39) T191A probably benign Het
Slc8b1 T C 5: 120,663,856 (GRCm39) S359P probably damaging Het
Srf T C 17: 46,866,349 (GRCm39) T136A possibly damaging Het
Stx1a G T 5: 135,052,473 (GRCm39) probably benign Het
Taf1d T A 9: 15,221,690 (GRCm39) C224* probably null Het
Tnik A G 3: 28,675,226 (GRCm39) S700G probably null Het
Ttn T C 2: 76,773,331 (GRCm39) H2357R probably benign Het
Ttn T C 2: 76,566,458 (GRCm39) E28145G probably damaging Het
Ush1c C A 7: 45,858,561 (GRCm39) V576F possibly damaging Het
Xpc T C 6: 91,492,726 (GRCm39) E19G probably benign Het
Zdhhc25 G A 15: 88,485,045 (GRCm39) V127M probably damaging Het
Other mutations in Or52r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Or52r1b APN 7 102,691,357 (GRCm39) missense probably damaging 1.00
IGL02236:Or52r1b APN 7 102,690,928 (GRCm39) missense possibly damaging 0.78
IGL03056:Or52r1b APN 7 102,690,958 (GRCm39) missense possibly damaging 0.87
IGL03351:Or52r1b APN 7 102,691,337 (GRCm39) missense probably damaging 1.00
IGL03368:Or52r1b APN 7 102,690,972 (GRCm39) missense possibly damaging 0.93
R1762:Or52r1b UTSW 7 102,691,249 (GRCm39) missense probably damaging 1.00
R2027:Or52r1b UTSW 7 102,690,731 (GRCm39) missense probably benign 0.36
R3758:Or52r1b UTSW 7 102,691,177 (GRCm39) missense probably benign 0.09
R4668:Or52r1b UTSW 7 102,691,058 (GRCm39) missense probably benign
R5568:Or52r1b UTSW 7 102,691,517 (GRCm39) missense possibly damaging 0.72
R5573:Or52r1b UTSW 7 102,691,547 (GRCm39) missense probably damaging 1.00
R6005:Or52r1b UTSW 7 102,690,853 (GRCm39) missense probably damaging 0.98
R7112:Or52r1b UTSW 7 102,690,862 (GRCm39) missense probably damaging 0.98
R7223:Or52r1b UTSW 7 102,690,839 (GRCm39) missense possibly damaging 0.65
R7875:Or52r1b UTSW 7 102,691,060 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16