Incidental Mutation 'IGL03351:Or52r1b'
ID 419692
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 # IGL03351
Quality Score
Status
Chromosome 7
Chromosomal Location 102690688-102691647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102691337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 212 (D212G)
Ref Sequence ENSEMBL: ENSMUSP00000149453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098212] [ENSMUST00000210119] [ENSMUST00000211036] [ENSMUST00000214021]
AlphaFold Q8VGV9
Predicted Effect probably damaging
Transcript: ENSMUST00000098212
AA Change: D217G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095813
Gene: ENSMUSG00000073961
AA Change: D217G

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 probably damaging
Transcript: ENSMUST00000210119
AA Change: D212G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211036
AA Change: D212G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214021
AA Change: D212G

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,561,427 (GRCm39) D251E probably benign Het
5730460C07Rik C T 3: 153,495,595 (GRCm39) noncoding transcript Het
Coch G A 12: 51,649,989 (GRCm39) R326Q probably benign Het
Cpa3 A G 3: 20,270,126 (GRCm39) V366A probably benign Het
Csf1r C T 18: 61,250,180 (GRCm39) Q382* probably null Het
Csta1 C A 16: 35,951,411 (GRCm39) G4* probably null Het
Cts7 T C 13: 61,504,417 (GRCm39) R49G probably damaging Het
Dlg5 A G 14: 24,220,522 (GRCm39) V575A probably benign Het
Ero1a G T 14: 45,531,990 (GRCm39) N227K probably benign Het
Faap24 G T 7: 35,094,734 (GRCm39) C58* probably null Het
Hfm1 G A 5: 107,059,441 (GRCm39) Q194* probably null Het
Hs3st5 T A 10: 36,709,319 (GRCm39) Y285N probably damaging Het
Hyal6 G A 6: 24,743,428 (GRCm39) G375R probably damaging Het
Itgb5 T C 16: 33,730,922 (GRCm39) S93P probably benign Het
Kcnj6 A T 16: 94,633,442 (GRCm39) M205K probably damaging Het
Kdm6a C T X: 18,113,343 (GRCm39) Q92* probably null Het
Klhl38 A G 15: 58,186,726 (GRCm39) M1T probably null Het
Krtap7-1 T C 16: 89,304,884 (GRCm39) probably benign Het
L1cam T C X: 72,906,634 (GRCm39) T270A probably damaging Het
Lmod2 A G 6: 24,598,015 (GRCm39) N45S probably benign Het
Magea13 G A X: 57,964,297 (GRCm39) V19I probably benign Het
Mmp2 A G 8: 93,565,970 (GRCm39) I424V probably benign Het
Myh8 A G 11: 67,194,739 (GRCm39) Q1650R possibly damaging Het
Naalad2 T A 9: 18,275,483 (GRCm39) E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 (GRCm39) T74A probably benign Het
Npr2 G T 4: 43,640,652 (GRCm39) M368I probably benign Het
Nup58 T C 14: 60,466,224 (GRCm39) T445A probably benign Het
Or14a256 A G 7: 86,264,885 (GRCm39) Y323H possibly damaging Het
Pkp3 A G 7: 140,662,606 (GRCm39) T73A probably benign Het
Pole A G 5: 110,449,864 (GRCm39) probably benign Het
Ppp2r3d C T 9: 101,088,391 (GRCm39) G644D probably benign Het
Pramel23 G A 4: 143,423,658 (GRCm39) T377I possibly damaging Het
Ptprb T C 10: 116,175,487 (GRCm39) Y1161H probably benign Het
Ptprs T A 17: 56,744,943 (GRCm39) K264N probably damaging Het
Rasal2 T C 1: 157,020,311 (GRCm39) probably benign Het
Serpina6 A T 12: 103,613,172 (GRCm39) I376N probably damaging Het
Setx T G 2: 29,051,811 (GRCm39) I2062M probably benign Het
Slc9c1 A G 16: 45,363,531 (GRCm39) D99G probably benign Het
Spata31h1 T C 10: 82,119,401 (GRCm39) probably benign Het
Taok1 A G 11: 77,451,154 (GRCm39) Y309H probably damaging Het
Trappc10 T C 10: 78,024,595 (GRCm39) D1178G probably damaging Het
Trav5-1 G A 14: 52,860,302 (GRCm39) E36K probably damaging Het
Vmn1r237 T C 17: 21,535,099 (GRCm39) V274A probably benign Het
Vmn1r29 A T 6: 58,284,735 (GRCm39) S152C probably damaging Het
Washc5 C A 15: 59,235,199 (GRCm39) probably benign Het
Zfp369 T G 13: 65,443,967 (GRCm39) L370R possibly damaging Het
Zfp750 T C 11: 121,404,173 (GRCm39) Y234C 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
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
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 2016-08-02