Incidental Mutation 'IGL01061:Or52b1'
ID 51417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52b1
Ensembl Gene ENSMUSG00000050266
Gene Name olfactory receptor family 52 subfamily B member 1
Synonyms Olfr690, GA_x6K02T2PBJ9-7959171-7958224, MOR31-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01061
Quality Score
Status
Chromosome 7
Chromosomal Location 104978424-104979485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104978589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 270 (I270T)
Ref Sequence ENSEMBL: ENSMUSP00000150831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061920] [ENSMUST00000211006] [ENSMUST00000216230]
AlphaFold Q8VH18
Predicted Effect possibly damaging
Transcript: ENSMUST00000061920
AA Change: I270T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: I270T

DomainStartEndE-ValueType
transmembrane domain 2 19 N/A INTRINSIC
Pfam:7tm_4 33 312 2e-110 PFAM
Pfam:7TM_GPCR_Srsx 37 264 1.4e-9 PFAM
Pfam:7tm_1 43 294 1.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209868
Predicted Effect possibly damaging
Transcript: ENSMUST00000211006
AA Change: I270T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216230
AA Change: I270T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
B3gnt2 T A 11: 22,786,042 (GRCm39) E382V probably damaging Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Cpb1 T A 3: 20,320,680 (GRCm39) I92L probably benign Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fam83a A T 15: 57,849,771 (GRCm39) Y105F possibly damaging Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mcm3 A T 1: 20,884,720 (GRCm39) I261N possibly damaging Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prelid3b T C 2: 174,307,614 (GRCm39) probably null Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab22a T A 2: 173,530,003 (GRCm39) D60E probably damaging Het
Rab32 A G 10: 10,433,618 (GRCm39) L72P probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in Or52b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Or52b1 APN 7 104,978,605 (GRCm39) missense probably benign 0.01
IGL01546:Or52b1 APN 7 104,978,899 (GRCm39) missense probably damaging 1.00
IGL02936:Or52b1 APN 7 104,979,212 (GRCm39) nonsense probably null
R0206:Or52b1 UTSW 7 104,979,090 (GRCm39) missense possibly damaging 0.76
R0206:Or52b1 UTSW 7 104,979,090 (GRCm39) missense possibly damaging 0.76
R1425:Or52b1 UTSW 7 104,978,922 (GRCm39) missense probably damaging 1.00
R1911:Or52b1 UTSW 7 104,978,590 (GRCm39) missense probably benign 0.11
R2126:Or52b1 UTSW 7 104,978,459 (GRCm39) nonsense probably null
R2511:Or52b1 UTSW 7 104,978,817 (GRCm39) missense probably damaging 1.00
R2919:Or52b1 UTSW 7 104,979,067 (GRCm39) missense probably damaging 1.00
R3755:Or52b1 UTSW 7 104,979,358 (GRCm39) missense probably damaging 1.00
R4152:Or52b1 UTSW 7 104,978,592 (GRCm39) missense probably damaging 1.00
R4153:Or52b1 UTSW 7 104,978,592 (GRCm39) missense probably damaging 1.00
R4154:Or52b1 UTSW 7 104,978,592 (GRCm39) missense probably damaging 1.00
R4247:Or52b1 UTSW 7 104,979,355 (GRCm39) missense probably benign
R5015:Or52b1 UTSW 7 104,978,811 (GRCm39) missense possibly damaging 0.61
R5143:Or52b1 UTSW 7 104,978,731 (GRCm39) missense probably damaging 1.00
R5642:Or52b1 UTSW 7 104,978,772 (GRCm39) missense probably damaging 1.00
R6747:Or52b1 UTSW 7 104,979,234 (GRCm39) missense probably benign 0.00
R6961:Or52b1 UTSW 7 104,978,913 (GRCm39) missense probably damaging 1.00
R7074:Or52b1 UTSW 7 104,978,475 (GRCm39) missense probably benign 0.44
R8066:Or52b1 UTSW 7 104,978,761 (GRCm39) missense possibly damaging 0.87
R9273:Or52b1 UTSW 7 104,978,646 (GRCm39) missense probably damaging 1.00
R9314:Or52b1 UTSW 7 104,979,081 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21