Incidental Mutation 'IGL02662:Or10a48'
ID 302575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10a48
Ensembl Gene ENSMUSG00000066241
Gene Name olfactory receptor family 10 subfamily A member 48
Synonyms Olfr514, MOR268-1, GA_x6K02T2PBJ9-11156311-11155379
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL02662
Quality Score
Status
Chromosome 7
Chromosomal Location 108424272-108425204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108424952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 85 (T85A)
Ref Sequence ENSEMBL: ENSMUSP00000081807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084754]
AlphaFold Q8VFZ6
Predicted Effect probably benign
Transcript: ENSMUST00000084754
AA Change: T85A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: T85A

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 3.9e-57 PFAM
Pfam:7tm_1 40 289 5e-21 PFAM
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,618,744 (GRCm39) probably null Het
Ap5z1 G A 5: 142,462,644 (GRCm39) probably null Het
Cdhr5 T G 7: 140,854,416 (GRCm39) I120L possibly damaging Het
Chd5 C T 4: 152,456,588 (GRCm39) S975F probably damaging Het
Cts3 G T 13: 61,715,871 (GRCm39) Q132K probably damaging Het
Cylc2 T A 4: 51,216,698 (GRCm39) probably benign Het
Defb39 A G 8: 19,102,891 (GRCm39) V68A probably benign Het
Dgki A G 6: 36,839,421 (GRCm39) probably benign Het
Dhtkd1 G A 2: 5,904,783 (GRCm39) P867L probably damaging Het
Gata5 C T 2: 179,969,544 (GRCm39) probably benign Het
Glt28d2 T A 3: 85,779,423 (GRCm39) I17F probably damaging Het
Gstm2 T C 3: 107,892,378 (GRCm39) Y82C possibly damaging Het
Hs6st1 T A 1: 36,142,893 (GRCm39) L276* probably null Het
Iqgap1 T C 7: 80,392,827 (GRCm39) D712G probably benign Het
Kdm4c T C 4: 74,323,058 (GRCm39) S997P probably damaging Het
Ksr1 G A 11: 78,927,551 (GRCm39) T289I probably damaging Het
Lingo4 T C 3: 94,309,124 (GRCm39) probably benign Het
Ncapd2 A G 6: 125,153,694 (GRCm39) S674P probably damaging Het
Nek1 G A 8: 61,557,218 (GRCm39) V841I probably benign Het
Or8i2 T C 2: 86,852,346 (GRCm39) T181A probably benign Het
Pigx A G 16: 31,906,201 (GRCm39) V40A probably damaging Het
Pla2g2d T G 4: 138,506,006 (GRCm39) M5R possibly damaging Het
Ppa2 G T 3: 133,073,644 (GRCm39) R234I probably damaging Het
Rbms1 A C 2: 60,592,650 (GRCm39) L221R probably damaging Het
Rnasel C A 1: 153,629,857 (GRCm39) N124K probably damaging Het
Serpinb9h A G 13: 33,588,513 (GRCm39) N366S possibly damaging Het
Sigirr T A 7: 140,674,707 (GRCm39) probably benign Het
Tas2r136 A T 6: 132,754,671 (GRCm39) V152E probably damaging Het
Tlnrd1 C T 7: 83,532,027 (GRCm39) V135M possibly damaging Het
Tlnrd1 A G 7: 83,531,744 (GRCm39) L229S probably damaging Het
Top1mt A G 15: 75,540,554 (GRCm39) V239A probably damaging Het
Tpd52 A T 3: 9,009,775 (GRCm39) probably null Het
Trim16 T A 11: 62,731,383 (GRCm39) L331Q possibly damaging Het
Ttll4 A G 1: 74,726,390 (GRCm39) probably null Het
Vmn1r27 T A 6: 58,192,272 (GRCm39) D244V probably damaging Het
Vmn2r72 A C 7: 85,387,391 (GRCm39) D724E probably benign Het
Zfp563 T C 17: 33,321,253 (GRCm39) W18R probably damaging Het
Zswim8 T C 14: 20,763,142 (GRCm39) V347A probably benign Het
Other mutations in Or10a48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Or10a48 APN 7 108,424,280 (GRCm39) missense probably benign 0.00
IGL01469:Or10a48 APN 7 108,424,534 (GRCm39) missense probably benign 0.29
IGL02079:Or10a48 APN 7 108,425,143 (GRCm39) missense probably damaging 0.99
IGL02330:Or10a48 APN 7 108,425,206 (GRCm39) unclassified probably benign
IGL02713:Or10a48 APN 7 108,424,801 (GRCm39) missense probably damaging 1.00
R1158:Or10a48 UTSW 7 108,424,385 (GRCm39) missense probably damaging 1.00
R1610:Or10a48 UTSW 7 108,425,131 (GRCm39) missense probably benign
R1638:Or10a48 UTSW 7 108,424,442 (GRCm39) missense probably benign 0.03
R4242:Or10a48 UTSW 7 108,424,666 (GRCm39) missense probably benign
R4630:Or10a48 UTSW 7 108,424,802 (GRCm39) missense probably damaging 1.00
R5042:Or10a48 UTSW 7 108,424,678 (GRCm39) missense possibly damaging 0.72
R5967:Or10a48 UTSW 7 108,424,921 (GRCm39) missense probably benign 0.12
R7180:Or10a48 UTSW 7 108,425,186 (GRCm39) missense probably damaging 0.98
Z1088:Or10a48 UTSW 7 108,425,103 (GRCm39) nonsense probably null
Posted On 2015-04-16