Incidental Mutation 'IGL03297:Or10aa1'
ID 416118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10aa1
Ensembl Gene ENSMUSG00000045381
Gene Name olfactory receptor family 10 subfamily AA member 1
Synonyms GA_x6K02T2P20D-21133014-21132070, Olfr433, MOR123-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03297
Quality Score
Status
Chromosome 1
Chromosomal Location 173869499-173870502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 173869683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 56 (S56A)
Ref Sequence ENSEMBL: ENSMUSP00000149005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052975] [ENSMUST00000214690]
AlphaFold Q7TRV9
Predicted Effect probably benign
Transcript: ENSMUST00000052975
AA Change: S56A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000056772
Gene: ENSMUSG00000045381
AA Change: S56A

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 4.6e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 170 2.9e-8 PFAM
Pfam:7tm_1 41 289 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214690
AA Change: S56A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,341,663 (GRCm39) G1624S probably damaging Het
Adhfe1 A G 1: 9,620,173 (GRCm39) probably benign Het
Ano6 C A 15: 95,860,158 (GRCm39) T760N probably damaging Het
Camsap2 T C 1: 136,225,539 (GRCm39) M196V probably benign Het
Cd209d T C 8: 3,928,476 (GRCm39) D3G possibly damaging Het
Cdh5 T A 8: 104,854,831 (GRCm39) F253Y probably damaging Het
Cnot10 T C 9: 114,427,784 (GRCm39) E610G possibly damaging Het
Cnot4 T C 6: 35,001,158 (GRCm39) N579S probably benign Het
Csmd1 G T 8: 16,059,432 (GRCm39) S2101* probably null Het
Dgkq C A 5: 108,798,140 (GRCm39) R706L probably damaging Het
Gm5422 T C 10: 31,125,727 (GRCm39) noncoding transcript Het
Gpr34 A G X: 13,505,681 (GRCm39) Y70C probably damaging Het
Herc6 T A 6: 57,639,374 (GRCm39) L914Q probably benign Het
Ifitm6 T C 7: 140,595,948 (GRCm39) Y115C probably damaging Het
Iqcg G T 16: 32,856,002 (GRCm39) probably benign Het
Myo15a A G 11: 60,369,967 (GRCm39) D909G probably damaging Het
Nefl A G 14: 68,321,673 (GRCm39) T88A possibly damaging Het
Nfatc2 T A 2: 168,378,138 (GRCm39) N509I probably damaging Het
Nkd1 T C 8: 89,300,902 (GRCm39) probably benign Het
Npas2 T C 1: 39,331,771 (GRCm39) V62A possibly damaging Het
Oas2 T G 5: 120,873,150 (GRCm39) D635A possibly damaging Het
Obscn C T 11: 58,951,712 (GRCm39) V4014M possibly damaging Het
Ogfr C A 2: 180,236,200 (GRCm39) H262N possibly damaging Het
Or8b49 A T 9: 38,505,821 (GRCm39) L101F probably benign Het
Pa2g4 T C 10: 128,399,105 (GRCm39) D104G probably damaging Het
Parp11 T C 6: 127,467,045 (GRCm39) probably benign Het
Ppp2r5a C T 1: 191,086,959 (GRCm39) V360I probably benign Het
Ptpn13 A T 5: 103,688,943 (GRCm39) K912I probably benign Het
Sec16a A G 2: 26,329,202 (GRCm39) S938P probably benign Het
Slc15a1 A C 14: 121,724,096 (GRCm39) I170S probably damaging Het
Smchd1 T C 17: 71,656,695 (GRCm39) N1924S probably benign Het
Sprr4 G A 3: 92,407,731 (GRCm39) P24S unknown Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Tyw1 C T 5: 130,369,575 (GRCm39) A687V probably damaging Het
Vmn2r14 T A 5: 109,363,973 (GRCm39) I648F probably damaging Het
Vmn2r78 T A 7: 86,569,969 (GRCm39) C162* probably null Het
Other mutations in Or10aa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Or10aa1 APN 1 173,870,191 (GRCm39) missense probably damaging 0.99
IGL02369:Or10aa1 APN 1 173,869,539 (GRCm39) missense possibly damaging 0.64
IGL03256:Or10aa1 APN 1 173,869,774 (GRCm39) missense probably damaging 1.00
R0837:Or10aa1 UTSW 1 173,870,053 (GRCm39) missense probably damaging 1.00
R1583:Or10aa1 UTSW 1 173,870,046 (GRCm39) missense probably benign 0.11
R1974:Or10aa1 UTSW 1 173,870,154 (GRCm39) missense probably damaging 1.00
R2280:Or10aa1 UTSW 1 173,870,087 (GRCm39) missense probably benign 0.00
R2897:Or10aa1 UTSW 1 173,869,699 (GRCm39) missense probably damaging 1.00
R3022:Or10aa1 UTSW 1 173,869,650 (GRCm39) missense probably benign 0.13
R4478:Or10aa1 UTSW 1 173,870,182 (GRCm39) missense probably benign 0.00
R6364:Or10aa1 UTSW 1 173,869,778 (GRCm39) missense possibly damaging 0.80
R6588:Or10aa1 UTSW 1 173,869,844 (GRCm39) missense probably benign 0.01
R7343:Or10aa1 UTSW 1 173,870,419 (GRCm39) missense probably damaging 0.98
R7409:Or10aa1 UTSW 1 173,870,099 (GRCm39) missense probably benign 0.02
R7714:Or10aa1 UTSW 1 173,869,900 (GRCm39) missense probably benign 0.00
R7788:Or10aa1 UTSW 1 173,869,650 (GRCm39) missense probably benign 0.13
R8982:Or10aa1 UTSW 1 173,870,188 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02