Incidental Mutation 'R1158:Or10a48'
ID 101886
Institutional Source Beutler Lab
Gene Symbol Or10a48
Ensembl Gene ENSMUSG00000066241
Gene Name olfactory receptor family 10 subfamily A member 48
Synonyms Olfr514, MOR268-1, GA_x6K02T2PBJ9-11156311-11155379
MMRRC Submission 039231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R1158 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 108424272-108425204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108424385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 274 (S274P)
Ref Sequence ENSEMBL: ENSMUSP00000081807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084754]
AlphaFold Q8VFZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000084754
AA Change: S274P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: S274P

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 3.9e-57 PFAM
Pfam:7tm_1 40 289 5e-21 PFAM
Meta Mutation Damage Score 0.4026 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,217,566 (GRCm39) V193A possibly damaging Het
Ahnak A C 19: 8,991,290 (GRCm39) E4191D probably benign Het
BC024139 T A 15: 76,004,542 (GRCm39) probably benign Het
Bpifb9a T G 2: 154,104,184 (GRCm39) I209S probably benign Het
Bst1 T G 5: 43,997,834 (GRCm39) probably null Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Carf A G 1: 60,186,998 (GRCm39) K499E probably benign Het
Casq2 A G 3: 102,024,199 (GRCm39) E147G probably damaging Het
Cd8a T A 6: 71,350,712 (GRCm39) V59D probably damaging Het
Chrm5 T C 2: 112,310,214 (GRCm39) T301A probably benign Het
Cog5 G A 12: 31,920,056 (GRCm39) probably benign Het
Csmd3 T C 15: 48,156,170 (GRCm39) probably null Het
Dop1a T C 9: 86,367,609 (GRCm39) S31P probably damaging Het
Eif1ad9 A T 12: 88,296,438 (GRCm39) I139F unknown Het
Epb41 T C 4: 131,727,502 (GRCm39) probably benign Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Gdpgp1 T C 7: 79,888,250 (GRCm39) F94L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Htr3b T C 9: 48,847,390 (GRCm39) K375R possibly damaging Het
Inhbe G A 10: 127,187,186 (GRCm39) R77W probably damaging Het
Itgb8 T C 12: 119,166,231 (GRCm39) E100G probably damaging Het
Jakmip1 T C 5: 37,248,472 (GRCm39) V44A possibly damaging Het
Lrp12 A G 15: 39,741,827 (GRCm39) V315A probably damaging Het
Lrp1b T A 2: 40,567,506 (GRCm39) T305S unknown Het
Map3k2 A G 18: 32,350,211 (GRCm39) T354A probably benign Het
Mmp16 T C 4: 17,987,726 (GRCm39) probably null Het
Mphosph10 T C 7: 64,038,607 (GRCm39) probably benign Het
Or10ak7 A T 4: 118,791,614 (GRCm39) C144S probably damaging Het
Or4c52 T A 2: 89,845,598 (GRCm39) I108N possibly damaging Het
Or4k47 T C 2: 111,452,086 (GRCm39) E111G probably damaging Het
Or5p52 G A 7: 107,502,130 (GRCm39) V69I possibly damaging Het
Slc43a3 C A 2: 84,768,140 (GRCm39) F37L probably benign Het
Slf2 G T 19: 44,919,855 (GRCm39) A36S probably damaging Het
Sorcs1 T C 19: 50,132,598 (GRCm39) probably benign Het
Thsd7b A C 1: 130,117,672 (GRCm39) probably null Het
Tnfrsf18 A C 4: 156,112,739 (GRCm39) I142L probably benign Het
Ttn A G 2: 76,632,855 (GRCm39) probably benign Het
Tufm T A 7: 126,088,614 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,059,058 (GRCm39) probably benign Het
Zfp385c T C 11: 100,520,709 (GRCm39) probably benign Het
Zfp964 T A 8: 70,116,503 (GRCm39) C368S unknown Het
Zswim8 G A 14: 20,771,736 (GRCm39) 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
IGL02662:Or10a48 APN 7 108,424,952 (GRCm39) missense probably benign 0.16
IGL02713:Or10a48 APN 7 108,424,801 (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
Predicted Primers
Posted On 2014-01-15