Incidental Mutation 'A9681:Or52n1'
ID 17
Institutional Source Beutler Lab
Gene Symbol Or52n1
Ensembl Gene ENSMUSG00000051885
Gene Name olfactory receptor family 52 subfamily N member 1, pseudogene 1
Synonyms EG667918, Olfr664, MOR34-10P, GA_x6K02T2PBJ9-7361631-7360711
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # A9681 (G3) of strain atchoum
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 104382592-104383557 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 104383610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072887] [ENSMUST00000211596]
AlphaFold Q7TRP5
Predicted Effect probably benign
Transcript: ENSMUST00000072887
Predicted Effect probably benign
Transcript: ENSMUST00000211596
Coding Region Coverage
  • 1x: 85.7%
  • 3x: 64.9%
Validation Efficiency 85% (88/103)
Allele List at MGI
Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,161,755 (GRCm39) probably null Homo
Gm9943 T A 17: 16,235,254 (GRCm39) Het
Ints1 T C 5: 139,755,894 (GRCm39) E538G possibly damaging Homo
Pakap A G 4: 57,855,358 (GRCm39) Q270R probably damaging Het
Pld1 C A 3: 28,139,981 (GRCm39) H600Q probably benign Homo
Other mutations in Or52n1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2862:Or52n1 UTSW 7 104,383,425 (GRCm39) missense probably benign
R3923:Or52n1 UTSW 7 104,383,396 (GRCm39) missense probably benign 0.07
R3925:Or52n1 UTSW 7 104,383,396 (GRCm39) missense probably benign 0.07
R4327:Or52n1 UTSW 7 104,382,833 (GRCm39) missense probably damaging 1.00
R6226:Or52n1 UTSW 7 104,383,243 (GRCm39) missense probably damaging 0.98
R6370:Or52n1 UTSW 7 104,383,124 (GRCm39) missense probably benign 0.03
R7283:Or52n1 UTSW 7 104,382,800 (GRCm39) missense probably damaging 1.00
R7397:Or52n1 UTSW 7 104,382,815 (GRCm39) missense possibly damaging 0.46
R7554:Or52n1 UTSW 7 104,383,074 (GRCm39) missense probably benign
R8732:Or52n1 UTSW 7 104,383,115 (GRCm39) missense probably benign 0.00
R8977:Or52n1 UTSW 7 104,383,248 (GRCm39) missense probably damaging 0.99
Nature of Mutation
DNA sequencing using the SOLiD technique identified identified an A to G transition at position 1659 in the Genbank genomic region NC_000073 for the Olfr664 gene on chromosome 7 (ATTTTTACAG -> GTTTTTACAG).  The mutation is located within intron 1, ten nucleotides upstream from the start of exon 2, and may impair the acceptor splice site of intron 1. Olfr664 contains 2 exons, but this record has been removed from the NCBI database due to standard genome annotation processing.The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
Olfr664 encodes the 310 amino acid olfactory receptor 664. Olfactory receptors are G-protein coupled receptors (GPCRs). Like other GPCRs, OLFR13 contains seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus. A conserved disulfide bond is located between amino acids 96 and 178 (Uniprot Q7TRP5).
Note

also present in stock# ZE80

Posted On 2009-11-11