Incidental Mutation 'IGL02797:Or52ab2'
ID 359974
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 # IGL02797
Quality Score
Status
Chromosome 7
Chromosomal Location 102969620-102970567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102970058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 147 (I147L)
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: I147L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095804
Gene: ENSMUSG00000073952
AA Change: I147L

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: I147L

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,214 (GRCm39) M924T probably benign Het
Afg2a A G 3: 37,512,465 (GRCm39) probably benign Het
B3gat2 A G 1: 23,854,360 (GRCm39) Y218C probably damaging Het
Bcs1l T C 1: 74,629,620 (GRCm39) probably null Het
Cd109 T A 9: 78,568,995 (GRCm39) I358N probably damaging Het
Cd276 T C 9: 58,444,719 (GRCm39) D84G possibly damaging Het
Chsy1 T C 7: 65,821,412 (GRCm39) F549S probably damaging Het
Clca3a2 T C 3: 144,787,024 (GRCm39) N549S probably benign Het
Cma1 A G 14: 56,181,271 (GRCm39) S32P possibly damaging Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Ctps1 A T 4: 120,420,021 (GRCm39) I131K probably benign Het
Cyp2w1 T C 5: 139,342,628 (GRCm39) L441P probably damaging Het
Dnajc21 A G 15: 10,461,441 (GRCm39) Y170H probably damaging Het
Eif3a A T 19: 60,761,164 (GRCm39) L648Q probably damaging Het
Eif3l T A 15: 78,959,477 (GRCm39) D6E probably benign Het
Fam228a A T 12: 4,781,484 (GRCm39) L125Q probably damaging Het
Foxa2 A G 2: 147,886,045 (GRCm39) C263R possibly damaging Het
Gm17455 A G 10: 60,239,107 (GRCm39) E124G possibly damaging Het
Gpc6 T G 14: 117,163,394 (GRCm39) L16R probably damaging Het
Hdac9 A G 12: 34,443,273 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,679 (GRCm39) N400S probably benign Het
Herc4 G A 10: 63,152,586 (GRCm39) probably null Het
Il12b A G 11: 44,301,180 (GRCm39) probably null Het
Lama4 A G 10: 38,932,920 (GRCm39) R599G probably null Het
Lrp1b T A 2: 41,561,069 (GRCm39) E286V Het
Mink1 C T 11: 70,501,176 (GRCm39) P784S probably damaging Het
Musk T C 4: 58,366,921 (GRCm39) F513S probably benign Het
Nfasc T A 1: 132,538,186 (GRCm39) D474V probably damaging Het
Nhsl3 C T 4: 129,117,104 (GRCm39) R565H probably damaging Het
Nos2 T G 11: 78,831,170 (GRCm39) F420V probably damaging Het
Pcdhb14 A G 18: 37,582,904 (GRCm39) Y670C probably damaging Het
Polr1b A G 2: 128,944,899 (GRCm39) E65G probably damaging Het
Ppp1r10 T G 17: 36,238,904 (GRCm39) probably null Het
Prag1 C T 8: 36,606,655 (GRCm39) R799C probably damaging Het
Prb1c T A 6: 132,340,008 (GRCm39) probably null Het
Ptch1 T C 13: 63,681,421 (GRCm39) N485S probably benign Het
Rgsl1 T C 1: 153,683,454 (GRCm39) T19A probably damaging Het
Sgpl1 A C 10: 60,937,507 (GRCm39) S507A probably benign Het
Sgpp2 A G 1: 78,393,819 (GRCm39) D274G probably benign Het
Skap1 A G 11: 96,603,843 (GRCm39) D211G possibly damaging Het
Smc3 A G 19: 53,627,189 (GRCm39) T830A probably benign Het
Smpd2 G A 10: 41,364,074 (GRCm39) T215I possibly damaging Het
Sntg2 T G 12: 30,276,891 (GRCm39) Y387S possibly damaging Het
Sorl1 T G 9: 41,948,355 (GRCm39) D810A probably damaging Het
Spop T A 11: 95,372,909 (GRCm39) I217N probably damaging Het
Stac2 T C 11: 97,934,345 (GRCm39) R120G possibly damaging Het
Stau1 A T 2: 166,791,266 (GRCm39) *496R probably null Het
Tmeff2 C T 1: 50,967,206 (GRCm39) R34C probably damaging Het
Treml2 C T 17: 48,609,739 (GRCm39) A57V possibly damaging Het
Vmn2r15 T C 5: 109,445,250 (GRCm39) D58G probably benign Het
Vmn2r7 T C 3: 64,598,666 (GRCm39) I721M possibly damaging Het
Vmn2r70 C A 7: 85,208,295 (GRCm39) M727I probably benign Het
Vwa8 T A 14: 79,162,702 (GRCm39) C161S 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
IGL02811:Or52ab2 APN 7 102,970,140 (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