Incidental Mutation 'IGL02547:Or52ad1'
ID 297867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52ad1
Ensembl Gene ENSMUSG00000045540
Gene Name olfactory receptor family 52 subfamily AD member 1
Synonyms Olfr600, MOR39-1, GA_x6K02T2PBJ9-6056235-6055291
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL02547
Quality Score
Chromosome 7
Chromosomal Location 102995189-102996133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102995451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 228 (F228S)
Ref Sequence ENSEMBL: ENSMUSP00000148967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056222] [ENSMUST00000215042]
AlphaFold E9PUN7
Predicted Effect probably damaging
Transcript: ENSMUST00000056222
AA Change: F228S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: F228S

Pfam:7tm_4 33 312 1.1e-97 PFAM
Pfam:7TM_GPCR_Srsx 37 226 1.2e-12 PFAM
Pfam:7tm_1 43 305 7.2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215042
AA Change: F228S

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Atp5po A T 16: 91,725,849 (GRCm39) Y48N probably damaging Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Cyp4f15 A G 17: 32,919,229 (GRCm39) R351G probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Idh3a T A 9: 54,499,679 (GRCm39) V31D probably benign Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or5a3 A T 19: 12,399,675 (GRCm39) M1L probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pced1a T C 2: 130,261,627 (GRCm39) D342G possibly damaging Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,936,116 (GRCm39) L323Q probably damaging Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null Het
Other mutations in Or52ad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Or52ad1 APN 7 102,995,386 (GRCm39) missense probably benign 0.15
IGL02239:Or52ad1 APN 7 102,995,805 (GRCm39) missense probably damaging 1.00
IGL02285:Or52ad1 APN 7 102,995,245 (GRCm39) nonsense probably null
IGL03149:Or52ad1 APN 7 102,996,056 (GRCm39) missense probably benign 0.00
R0193:Or52ad1 UTSW 7 102,995,411 (GRCm39) missense possibly damaging 0.74
R0304:Or52ad1 UTSW 7 102,995,918 (GRCm39) missense probably damaging 1.00
R0454:Or52ad1 UTSW 7 102,996,085 (GRCm39) missense probably benign 0.02
R0622:Or52ad1 UTSW 7 102,996,064 (GRCm39) missense probably damaging 0.97
R1988:Or52ad1 UTSW 7 102,995,316 (GRCm39) missense possibly damaging 0.88
R1989:Or52ad1 UTSW 7 102,995,316 (GRCm39) missense possibly damaging 0.88
R2937:Or52ad1 UTSW 7 102,995,272 (GRCm39) missense probably benign 0.18
R4426:Or52ad1 UTSW 7 102,995,290 (GRCm39) missense probably damaging 1.00
R5362:Or52ad1 UTSW 7 102,995,454 (GRCm39) missense probably damaging 1.00
R5723:Or52ad1 UTSW 7 102,995,826 (GRCm39) missense possibly damaging 0.85
R6793:Or52ad1 UTSW 7 102,995,473 (GRCm39) missense probably benign 0.00
R6863:Or52ad1 UTSW 7 102,996,123 (GRCm39) missense possibly damaging 0.86
R6935:Or52ad1 UTSW 7 102,996,002 (GRCm39) missense probably damaging 1.00
R6983:Or52ad1 UTSW 7 102,996,022 (GRCm39) missense probably benign 0.00
R7262:Or52ad1 UTSW 7 102,995,764 (GRCm39) missense probably damaging 1.00
R7313:Or52ad1 UTSW 7 102,995,538 (GRCm39) missense probably benign 0.06
R7774:Or52ad1 UTSW 7 102,995,737 (GRCm39) missense possibly damaging 0.85
R9246:Or52ad1 UTSW 7 102,995,908 (GRCm39) missense probably damaging 0.96
R9542:Or52ad1 UTSW 7 102,995,569 (GRCm39) missense probably benign 0.00
X0018:Or52ad1 UTSW 7 102,996,106 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16