Incidental Mutation 'IGL03002:Or10aa3'
ID 407372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10aa3
Ensembl Gene ENSMUSG00000047048
Gene Name olfactory receptor family 10 subfamily AA member 3
Synonyms GA_x6K02T2P20D-21124681-21123743, MOR123-2, Olfr432
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03002
Quality Score
Status
Chromosome 1
Chromosomal Location 173877941-173878879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 173878191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 84 (T84N)
Ref Sequence ENSEMBL: ENSMUSP00000150596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062665] [ENSMUST00000213211] [ENSMUST00000213381]
AlphaFold E9Q8M2
Predicted Effect probably benign
Transcript: ENSMUST00000062665
AA Change: T84N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000060341
Gene: ENSMUSG00000047048
AA Change: T84N

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.7e-47 PFAM
Pfam:7TM_GPCR_Srsx 35 307 1.2e-7 PFAM
Pfam:7tm_1 41 289 6.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192435
Predicted Effect probably benign
Transcript: ENSMUST00000213211
AA Change: T84N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000213381
AA Change: T84N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
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
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging Het
Other mutations in Or10aa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Or10aa3 APN 1 173,878,251 (GRCm39) missense probably damaging 1.00
R0020:Or10aa3 UTSW 1 173,878,413 (GRCm39) missense probably damaging 0.99
R0386:Or10aa3 UTSW 1 173,877,965 (GRCm39) missense probably benign 0.00
R1735:Or10aa3 UTSW 1 173,878,365 (GRCm39) missense probably benign
R1932:Or10aa3 UTSW 1 173,878,244 (GRCm39) missense probably damaging 1.00
R2363:Or10aa3 UTSW 1 173,878,814 (GRCm39) missense probably damaging 1.00
R3930:Or10aa3 UTSW 1 173,878,076 (GRCm39) missense probably damaging 1.00
R4024:Or10aa3 UTSW 1 173,878,683 (GRCm39) missense probably benign 0.00
R4777:Or10aa3 UTSW 1 173,878,244 (GRCm39) missense probably damaging 1.00
R4946:Or10aa3 UTSW 1 173,878,400 (GRCm39) missense possibly damaging 0.95
R5250:Or10aa3 UTSW 1 173,878,838 (GRCm39) missense probably benign
R5646:Or10aa3 UTSW 1 173,878,853 (GRCm39) nonsense probably null
R6178:Or10aa3 UTSW 1 173,878,533 (GRCm39) missense probably benign 0.00
R6634:Or10aa3 UTSW 1 173,878,535 (GRCm39) missense probably benign 0.11
R7578:Or10aa3 UTSW 1 173,878,266 (GRCm39) missense possibly damaging 0.71
R7653:Or10aa3 UTSW 1 173,878,488 (GRCm39) missense probably benign 0.36
R8110:Or10aa3 UTSW 1 173,878,091 (GRCm39) missense probably benign 0.01
R8426:Or10aa3 UTSW 1 173,878,146 (GRCm39) missense probably damaging 1.00
R9008:Or10aa3 UTSW 1 173,878,413 (GRCm39) missense probably damaging 0.99
R9408:Or10aa3 UTSW 1 173,878,329 (GRCm39) missense
RF014:Or10aa3 UTSW 1 173,878,553 (GRCm39) missense possibly damaging 0.68
Posted On 2016-08-02