Incidental Mutation 'IGL02369:Or10aa1'
ID 290830
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 # IGL02369
Quality Score
Status
Chromosome 1
Chromosomal Location 173869499-173870502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 173869539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 8 (W8R)
Ref Sequence ENSEMBL: ENSMUSP00000149005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052975] [ENSMUST00000214690]
AlphaFold Q7TRV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000052975
AA Change: W8R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056772
Gene: ENSMUSG00000045381
AA Change: W8R

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 possibly damaging
Transcript: ENSMUST00000214690
AA Change: W8R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 G T 6: 39,551,678 (GRCm39) L148F probably damaging Het
Arhgef10 G A 8: 15,047,551 (GRCm39) R1138H probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atp6v0b T A 4: 117,742,850 (GRCm39) I79F possibly damaging Het
Atp8b5 A T 4: 43,334,205 (GRCm39) N324Y probably benign Het
Bach2 A G 4: 32,579,975 (GRCm39) I610M possibly damaging Het
Casr G T 16: 36,315,051 (GRCm39) D929E probably benign Het
Cbln2 T C 18: 86,731,479 (GRCm39) S96P probably damaging Het
Cpxm1 T C 2: 130,238,344 (GRCm39) K73E probably damaging Het
Erap1 A G 13: 74,814,645 (GRCm39) Y457C probably benign Het
Etl4 T C 2: 20,535,000 (GRCm39) Y152H probably damaging Het
Fbh1 A T 2: 11,751,969 (GRCm39) S910T possibly damaging Het
Gm10142 T C 10: 77,551,947 (GRCm39) S103P probably benign Het
Gm12886 A G 4: 121,280,229 (GRCm39) S16P unknown Het
Gpr146 T C 5: 139,378,443 (GRCm39) Y82H probably benign Het
Herc1 C T 9: 66,399,293 (GRCm39) Q4282* probably null Het
Htr2a A T 14: 74,943,722 (GRCm39) E434V probably benign Het
Iqsec3 T C 6: 121,389,893 (GRCm39) probably benign Het
Islr A C 9: 58,064,907 (GRCm39) V200G probably damaging Het
Katnal1 T C 5: 148,815,737 (GRCm39) D400G probably benign Het
Lonrf2 A G 1: 38,850,913 (GRCm39) probably benign Het
Lrp2 A T 2: 69,294,980 (GRCm39) L3446Q probably damaging Het
Med12l G A 3: 59,164,794 (GRCm39) V1425I probably benign Het
Myh13 T C 11: 67,251,100 (GRCm39) probably benign Het
Nutm2 T G 13: 50,623,944 (GRCm39) S214A probably benign Het
Or2h1b A G 17: 37,462,665 (GRCm39) F66S probably damaging Het
Or5b99 T C 19: 12,977,072 (GRCm39) S241P probably damaging Het
Or6c33 C A 10: 129,853,425 (GRCm39) A65E possibly damaging Het
Pax5 A T 4: 44,691,919 (GRCm39) M109K probably damaging Het
Pfkfb2 G A 1: 130,628,572 (GRCm39) R345W probably damaging Het
Pkd1l3 A G 8: 110,342,977 (GRCm39) D105G unknown Het
Prdm11 A G 2: 92,805,864 (GRCm39) V362A probably benign Het
Prex2 T C 1: 11,171,393 (GRCm39) probably null Het
Prl8a1 T C 13: 27,760,924 (GRCm39) T103A possibly damaging Het
Rgl1 T C 1: 152,409,357 (GRCm39) I493V probably damaging Het
Rimkla A G 4: 119,335,146 (GRCm39) V79A possibly damaging Het
Ryr2 A T 13: 11,634,382 (GRCm39) S3791R possibly damaging Het
Sh3rf2 C A 18: 42,289,222 (GRCm39) S681* probably null Het
Stmnd1 T A 13: 46,439,029 (GRCm39) I87K probably benign Het
Tspan8 C A 10: 115,675,782 (GRCm39) F149L probably benign Het
Tspan8 A C 10: 115,675,783 (GRCm39) K150Q probably benign Het
Ttn T C 2: 76,772,720 (GRCm39) E2425G probably damaging Het
Other mutations in Or10aa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Or10aa1 APN 1 173,870,191 (GRCm39) missense probably damaging 0.99
IGL03256:Or10aa1 APN 1 173,869,774 (GRCm39) missense probably damaging 1.00
IGL03297:Or10aa1 APN 1 173,869,683 (GRCm39) missense probably benign 0.00
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 2015-04-16