Incidental Mutation 'IGL02811:Or52ab2'
ID 360565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52ab2
Ensembl Gene ENSMUSG00000073952
Gene Name olfactory receptor family 52 subfamily AB member 2
Synonyms Olfr597, MOR23-2, GA_x6K02T2PBJ9-6029614-6030561
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02811
Quality Score
Status
Chromosome 7
Chromosomal Location 102969620-102970567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102970140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 174 (I174T)
Ref Sequence ENSEMBL: ENSMUSP00000150238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098203] [ENSMUST00000214765] [ENSMUST00000216456]
AlphaFold L7N224
Predicted Effect probably benign
Transcript: ENSMUST00000098203
AA Change: I174T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095804
Gene: ENSMUSG00000073952
AA Change: I174T

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 2.2e-89 PFAM
Pfam:7TM_GPCR_Srsx 41 312 5.7e-7 PFAM
Pfam:7tm_1 47 297 3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214765
Predicted Effect probably benign
Transcript: ENSMUST00000216456
AA Change: I174T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 C T 13: 4,562,682 (GRCm39) R90H possibly damaging Het
BC048679 A T 7: 81,144,937 (GRCm39) probably benign Het
Chd6 T C 2: 160,832,221 (GRCm39) R984G probably damaging Het
Cobl A G 11: 12,203,285 (GRCm39) I1139T possibly damaging Het
Coq3 A G 4: 21,900,273 (GRCm39) R167G probably damaging Het
Crim1 A G 17: 78,658,130 (GRCm39) K670E possibly damaging Het
Crtac1 T C 19: 42,322,350 (GRCm39) E130G probably damaging Het
Dcbld1 A G 10: 52,196,069 (GRCm39) T426A probably benign Het
Dimt1 T C 13: 107,084,175 (GRCm39) probably benign Het
Dnal1 G A 12: 84,178,166 (GRCm39) probably null Het
Fes T C 7: 80,029,589 (GRCm39) Y631C probably damaging Het
Hemk1 A T 9: 107,208,750 (GRCm39) V149E probably benign Het
Itga6 T C 2: 71,657,076 (GRCm39) V397A probably damaging Het
Kmt2c A T 5: 25,520,026 (GRCm39) L2028* probably null Het
Krt33b C A 11: 99,920,395 (GRCm39) C86F probably benign Het
Lmx1a A G 1: 167,618,943 (GRCm39) I101V probably benign Het
Mlh1 A G 9: 111,100,582 (GRCm39) V4A probably benign Het
Mroh2b A G 15: 4,944,718 (GRCm39) I440V possibly damaging Het
Mrpl35 A G 6: 71,795,804 (GRCm39) Y28H probably benign Het
Oas3 C A 5: 120,902,387 (GRCm39) E636D unknown Het
Olfm4 T A 14: 80,259,113 (GRCm39) S454T probably damaging Het
Or4l15 T A 14: 50,197,590 (GRCm39) probably benign Het
Otoa G T 7: 120,717,878 (GRCm39) G365V possibly damaging Het
Pdgfrl G T 8: 41,430,005 (GRCm39) R124L probably damaging Het
Rcbtb2 T A 14: 73,411,851 (GRCm39) V380E probably damaging Het
Rufy2 A G 10: 62,836,106 (GRCm39) D345G probably damaging Het
Shq1 A T 6: 100,607,945 (GRCm39) I322N probably damaging Het
Skint4 C A 4: 111,944,200 (GRCm39) T4K possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tbc1d5 A G 17: 51,107,149 (GRCm39) I469T probably damaging Het
Thoc3 T C 13: 54,607,988 (GRCm39) R319G probably benign Het
Tmem63a A G 1: 180,793,348 (GRCm39) I507M probably damaging Het
Usp40 A T 1: 87,923,458 (GRCm39) I271N probably damaging Het
Vps13d T C 4: 144,858,335 (GRCm39) D2157G possibly damaging Het
Vwa8 T A 14: 79,231,899 (GRCm39) V586D probably benign Het
Other mutations in Or52ab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01864:Or52ab2 APN 7 102,970,541 (GRCm39) missense probably benign 0.27
IGL01872:Or52ab2 APN 7 102,970,179 (GRCm39) missense probably benign 0.17
IGL02797:Or52ab2 APN 7 102,970,058 (GRCm39) missense probably benign
PIT4131001:Or52ab2 UTSW 7 102,970,076 (GRCm39) nonsense probably null
R1800:Or52ab2 UTSW 7 102,969,621 (GRCm39) start codon destroyed probably null 0.98
R4921:Or52ab2 UTSW 7 102,969,750 (GRCm39) missense probably damaging 1.00
R6288:Or52ab2 UTSW 7 102,970,286 (GRCm39) missense probably damaging 0.97
R6993:Or52ab2 UTSW 7 102,969,998 (GRCm39) unclassified probably benign
R7043:Or52ab2 UTSW 7 102,970,292 (GRCm39) unclassified probably benign
R7322:Or52ab2 UTSW 7 102,970,494 (GRCm39) missense
R7472:Or52ab2 UTSW 7 102,969,656 (GRCm39) missense
R7704:Or52ab2 UTSW 7 102,969,978 (GRCm39) missense
R8393:Or52ab2 UTSW 7 102,969,668 (GRCm39) missense
R8418:Or52ab2 UTSW 7 102,970,278 (GRCm39) missense
R8830:Or52ab2 UTSW 7 102,970,212 (GRCm39) missense
R8867:Or52ab2 UTSW 7 102,970,449 (GRCm39) missense
Posted On 2015-12-18