Incidental Mutation 'IGL03368:Or52r1b'
ID 420157
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 # IGL03368
Quality Score
Status
Chromosome 7
Chromosomal Location 102690688-102691647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102690972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 95 (H95Q)
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: H95Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095813
Gene: ENSMUSG00000073961
AA Change: H95Q

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: H90Q

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211036
AA Change: H90Q

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214021
AA Change: H90Q

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
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
A530053G22Rik T C 6: 60,380,530 (GRCm39) noncoding transcript Het
Abca5 A G 11: 110,204,348 (GRCm39) probably benign Het
Agxt2 T A 15: 10,388,256 (GRCm39) C278* probably null Het
Ankar A G 1: 72,714,972 (GRCm39) L384P probably damaging Het
Ankrd55 T C 13: 112,455,090 (GRCm39) probably benign Het
Ap5m1 A G 14: 49,318,593 (GRCm39) probably benign Het
Arhgap18 C T 10: 26,648,689 (GRCm39) S37F possibly damaging Het
Btnl10 G A 11: 58,810,212 (GRCm39) V118I possibly damaging Het
Chst11 C A 10: 82,927,980 (GRCm39) P66T probably benign Het
Cited2 C A 10: 17,599,944 (GRCm39) P84Q possibly damaging Het
Cplane1 T C 15: 8,251,857 (GRCm39) V1914A probably benign Het
Dpy19l4 T A 4: 11,290,253 (GRCm39) I302F possibly damaging Het
Ece2 A G 16: 20,462,908 (GRCm39) E640G possibly damaging Het
Fam184b T C 5: 45,689,166 (GRCm39) D890G possibly damaging Het
Fam227b A T 2: 125,960,983 (GRCm39) D215E probably damaging Het
Foxp2 A G 6: 15,394,717 (GRCm39) K139R probably damaging Het
Gle1 T C 2: 29,833,805 (GRCm39) C401R probably damaging Het
Gp2 A T 7: 119,052,097 (GRCm39) C206S probably damaging Het
Hdgfl2 G T 17: 56,386,746 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,539,623 (GRCm39) N2956S probably damaging Het
Ifi209 A G 1: 173,470,057 (GRCm39) Q215R possibly damaging Het
Il20rb C T 9: 100,341,174 (GRCm39) probably benign Het
Katnip T C 7: 125,468,030 (GRCm39) probably benign Het
Kif26b A C 1: 178,743,773 (GRCm39) S1290R probably damaging Het
Mical1 A G 10: 41,355,625 (GRCm39) I156M probably damaging Het
Nbas C T 12: 13,378,452 (GRCm39) A613V probably benign Het
Nbea C T 3: 55,987,351 (GRCm39) V380M probably damaging Het
Nutf2 T C 8: 106,602,232 (GRCm39) F14S probably damaging Het
Or4c35 A T 2: 89,808,133 (GRCm39) I4L probably benign Het
Parp1 A G 1: 180,408,187 (GRCm39) E236G probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Ptcd2 T A 13: 99,466,577 (GRCm39) probably benign Het
Pygl T C 12: 70,237,926 (GRCm39) Q704R probably benign Het
Scaper A T 9: 55,563,311 (GRCm39) S492T possibly damaging Het
Sephs1 G A 2: 4,894,080 (GRCm39) D94N possibly damaging Het
Slc22a29 A C 19: 8,184,626 (GRCm39) probably null Het
Slc22a8 G T 19: 8,586,483 (GRCm39) probably benign Het
Slfn5 A G 11: 82,847,211 (GRCm39) D32G possibly damaging Het
Sphkap T A 1: 83,253,397 (GRCm39) T1451S probably benign Het
Srp54a A C 12: 55,138,051 (GRCm39) E63A probably null Het
Stap1 T A 5: 86,238,827 (GRCm39) I165N probably damaging Het
Terf2 T C 8: 107,797,181 (GRCm39) E494G probably damaging Het
Trak1 C A 9: 121,196,188 (GRCm39) L7I possibly damaging Het
Twnk T C 19: 44,998,931 (GRCm39) V557A probably damaging Het
U2af2 T A 7: 5,070,263 (GRCm39) probably benign Het
Ube2j1 T A 4: 33,038,317 (GRCm39) I75N probably damaging Het
Ubr5 A G 15: 37,998,560 (GRCm39) V1643A probably damaging Het
Vsx2 A G 12: 84,617,074 (GRCm39) T120A probably benign 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
IGL03351:Or52r1b APN 7 102,691,337 (GRCm39) missense probably damaging 1.00
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