Incidental Mutation 'IGL01735:Or52ae7'
ID 105657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52ae7
Ensembl Gene ENSMUSG00000073948
Gene Name olfactory receptor family 52 subfamily AE member 7
Synonyms MOR26-3, GA_x6K02T2PBJ9-6191595-6192545, Olfr608
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01735
Quality Score
Status
Chromosome 7
Chromosomal Location 103119248-103120198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103119530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 95 (F95L)
Ref Sequence ENSEMBL: ENSMUSP00000150595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213546]
AlphaFold E9Q564
Predicted Effect probably damaging
Transcript: ENSMUST00000098199
AA Change: F95L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095801
Gene: ENSMUSG00000073948
AA Change: F95L

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 4.7e-101 PFAM
Pfam:7TM_GPCR_Srsx 36 308 7.1e-8 PFAM
Pfam:7tm_1 42 293 6.4e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213546
AA Change: F95L

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A T 12: 4,251,213 (GRCm39) M612L probably benign Het
Adhfe1 C A 1: 9,618,373 (GRCm39) T19K possibly damaging Het
Atxn1 C T 13: 45,720,198 (GRCm39) V566M probably damaging Het
Bag6 T C 17: 35,364,737 (GRCm39) probably benign Het
Cdkl1 T G 12: 69,797,514 (GRCm39) Y258S probably benign Het
Chil6 A T 3: 106,296,004 (GRCm39) probably null Het
Clcn7 T C 17: 25,370,090 (GRCm39) F326L probably benign Het
Cngb3 A G 4: 19,415,648 (GRCm39) Y386C probably damaging Het
Dnah6 C A 6: 73,053,643 (GRCm39) E2916* probably null Het
Dnhd1 A G 7: 105,362,961 (GRCm39) E3841G probably benign Het
Fat1 G T 8: 45,489,276 (GRCm39) V3493L probably benign Het
Irx5 A T 8: 93,087,331 (GRCm39) H421L probably damaging Het
Kbtbd6 T C 14: 79,690,889 (GRCm39) V465A probably damaging Het
Kcp T A 6: 29,498,878 (GRCm39) N340I probably damaging Het
Klhdc2 A G 12: 69,347,053 (GRCm39) M73V probably benign Het
Lpar1 A G 4: 58,437,407 (GRCm39) S341P probably damaging Het
Lrba G A 3: 86,234,968 (GRCm39) V838I probably benign Het
Med12l A G 3: 59,170,675 (GRCm39) I1652V probably damaging Het
Myo5c A T 9: 75,208,720 (GRCm39) D1677V probably damaging Het
Ncoa2 A T 1: 13,235,127 (GRCm39) N935K probably benign Het
Nfrkb T C 9: 31,321,435 (GRCm39) S711P possibly damaging Het
Or1j20 C A 2: 36,759,698 (GRCm39) T40K possibly damaging Het
Or5w16 A G 2: 87,576,650 (GRCm39) I37V probably benign Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Prl7d1 A G 13: 27,898,372 (GRCm39) F47L possibly damaging Het
Ptprd A C 4: 76,055,057 (GRCm39) probably null Het
Rsph14 C A 10: 74,860,992 (GRCm39) G103C probably damaging Het
Slco1a4 A G 6: 141,763,477 (GRCm39) F413S probably benign Het
Slfn9 A G 11: 82,873,158 (GRCm39) Y582H probably damaging Het
Tcirg1 A T 19: 3,954,210 (GRCm39) probably benign Het
Trac G A 14: 54,460,438 (GRCm39) probably benign Het
Wbp2nl G T 15: 82,198,017 (GRCm39) V185L probably benign Het
Other mutations in Or52ae7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02428:Or52ae7 APN 7 103,119,590 (GRCm39) missense probably benign 0.03
IGL02832:Or52ae7 APN 7 103,119,905 (GRCm39) missense probably benign 0.00
R0546:Or52ae7 UTSW 7 103,119,907 (GRCm39) missense possibly damaging 0.65
R1518:Or52ae7 UTSW 7 103,119,249 (GRCm39) start codon destroyed probably null 0.98
R1696:Or52ae7 UTSW 7 103,119,384 (GRCm39) missense probably benign 0.18
R1735:Or52ae7 UTSW 7 103,119,353 (GRCm39) missense possibly damaging 0.83
R2927:Or52ae7 UTSW 7 103,120,089 (GRCm39) missense probably damaging 1.00
R3856:Or52ae7 UTSW 7 103,119,867 (GRCm39) missense probably damaging 1.00
R4374:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R4375:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R4377:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R5059:Or52ae7 UTSW 7 103,119,488 (GRCm39) nonsense probably null
R5174:Or52ae7 UTSW 7 103,119,610 (GRCm39) missense probably benign 0.14
R5579:Or52ae7 UTSW 7 103,120,121 (GRCm39) missense probably damaging 1.00
R6762:Or52ae7 UTSW 7 103,119,596 (GRCm39) missense probably benign 0.02
R7888:Or52ae7 UTSW 7 103,120,006 (GRCm39) nonsense probably null
R7980:Or52ae7 UTSW 7 103,119,504 (GRCm39) missense probably damaging 1.00
R8150:Or52ae7 UTSW 7 103,119,459 (GRCm39) missense probably damaging 1.00
R8966:Or52ae7 UTSW 7 103,119,524 (GRCm39) missense probably benign 0.07
R9369:Or52ae7 UTSW 7 103,119,555 (GRCm39) missense probably benign 0.14
R9683:Or52ae7 UTSW 7 103,119,157 (GRCm39) start gained probably benign
R9713:Or52ae7 UTSW 7 103,119,914 (GRCm39) missense possibly damaging 0.47
Posted On 2014-01-21