Incidental Mutation 'IGL02236:Or52r1b'
ID 285870
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 # IGL02236
Quality Score
Status
Chromosome 7
Chromosomal Location 102690688-102691647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 102690928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 76 (S76A)
Ref Sequence ENSEMBL: ENSMUSP00000149453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098212] [ENSMUST00000210119] [ENSMUST00000211036] [ENSMUST00000214021]
AlphaFold Q8VGV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000098212
AA Change: S81A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095813
Gene: ENSMUSG00000073961
AA Change: S81A

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: S76A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211036
AA Change: S76A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214021
AA Change: S76A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,246,138 (GRCm39) L529P probably damaging Het
Bdp1 A T 13: 100,197,399 (GRCm39) D995E probably benign Het
Cd22 T C 7: 30,566,893 (GRCm39) N607S possibly damaging Het
Ddx10 T A 9: 53,146,682 (GRCm39) D180V probably damaging Het
Dennd4c T C 4: 86,725,672 (GRCm39) Y709H possibly damaging Het
Dhrs3 A C 4: 144,620,133 (GRCm39) I17L probably benign Het
Dnah8 A T 17: 30,868,747 (GRCm39) K394* probably null Het
Flnc T A 6: 29,454,375 (GRCm39) I1896N probably damaging Het
Glipr1l2 A G 10: 111,928,534 (GRCm39) Y143C probably damaging Het
Lmo7 T C 14: 102,163,524 (GRCm39) probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mast3 A G 8: 71,241,888 (GRCm39) S98P probably benign Het
Myf5 A G 10: 107,320,051 (GRCm39) S200P possibly damaging Het
Pramel12 G A 4: 143,143,512 (GRCm39) V93I probably benign Het
Recql5 A C 11: 115,784,856 (GRCm39) S824A probably benign Het
Reg2 A G 6: 78,383,188 (GRCm39) E45G probably damaging Het
Rergl T C 6: 139,471,918 (GRCm39) D77G probably benign Het
Rnf224 T C 2: 25,126,260 (GRCm39) D31G probably damaging Het
Sema4c C T 1: 36,592,166 (GRCm39) S227N probably damaging Het
Sgsm2 C T 11: 74,750,698 (GRCm39) G439D probably damaging Het
Smap2 T A 4: 120,832,587 (GRCm39) M185L probably benign Het
Spty2d1 A G 7: 46,647,360 (GRCm39) V523A probably benign Het
Stk17b C A 1: 53,803,247 (GRCm39) R184L probably damaging Het
Syt13 A G 2: 92,771,210 (GRCm39) D99G probably damaging Het
Trav14-1 T A 14: 53,791,763 (GRCm39) S38T possibly damaging Het
Ttn T C 2: 76,700,812 (GRCm39) probably benign Het
Usp17la G A 7: 104,510,353 (GRCm39) W319* probably null Het
Vmn2r73 T C 7: 85,521,902 (GRCm39) T146A probably benign Het
Vwa3b C T 1: 37,193,132 (GRCm39) probably benign Het
Zfp13 A T 17: 23,799,739 (GRCm39) probably benign Het
Zscan18 A C 7: 12,503,251 (GRCm39) D769E probably benign Het
Other mutations in Or52r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Or52r1b APN 7 102,691,357 (GRCm39) missense probably damaging 1.00
IGL02448:Or52r1b APN 7 102,691,604 (GRCm39) missense possibly damaging 0.84
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