Incidental Mutation 'IGL03086:Or51a8'
ID 418099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51a8
Ensembl Gene ENSMUSG00000073964
Gene Name olfactory receptor family 51 subfamily A member 8
Synonyms Olfr570, MOR8-3, GA_x6K02T2PBJ9-5611412-5612350
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL03086
Quality Score
Status
Chromosome 7
Chromosomal Location 102549549-102550593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102549613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 13 (F13S)
Ref Sequence ENSEMBL: ENSMUSP00000148181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098215] [ENSMUST00000209778] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold Q8VH12
Predicted Effect probably damaging
Transcript: ENSMUST00000098215
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095817
Gene: ENSMUSG00000073964
AA Change: F13S

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 6.9e-113 PFAM
Pfam:7TM_GPCR_Srsx 36 174 7.5e-11 PFAM
Pfam:7tm_1 42 292 2.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209778
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214160
Predicted Effect probably benign
Transcript: ENSMUST00000215773
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A G 1: 72,682,437 (GRCm39) I1158T possibly damaging Het
Ankrd11 A G 8: 123,621,249 (GRCm39) S868P probably damaging Het
Atad3a C T 4: 155,833,127 (GRCm39) probably null Het
Cadm4 A T 7: 24,200,240 (GRCm39) N250Y probably damaging Het
Cd300c2 T C 11: 114,891,649 (GRCm39) E75G possibly damaging Het
Cdc23 A C 18: 34,770,239 (GRCm39) probably benign Het
Cep97 A G 16: 55,735,659 (GRCm39) S380P probably benign Het
Ckap5 T A 2: 91,400,621 (GRCm39) probably benign Het
Col6a4 A T 9: 105,960,061 (GRCm39) probably benign Het
Dclk1 G A 3: 55,154,788 (GRCm39) V73M probably damaging Het
Dnah8 T C 17: 30,961,754 (GRCm39) L2297P probably damaging Het
Eif2a A G 3: 58,448,538 (GRCm39) I124V probably benign Het
Fam227b A T 2: 125,960,951 (GRCm39) I226K probably benign Het
Fcgr1 G T 3: 96,191,814 (GRCm39) Y331* probably null Het
Helq T C 5: 100,944,793 (GRCm39) T106A possibly damaging Het
Ly9 A T 1: 171,432,738 (GRCm39) Y92N probably benign Het
Myom1 G A 17: 71,415,666 (GRCm39) C1256Y probably damaging Het
Ndc80 G A 17: 71,827,920 (GRCm39) T104I probably benign Het
Or1x2 T A 11: 50,918,557 (GRCm39) C243S probably damaging Het
Or2y1d A G 11: 49,321,632 (GRCm39) T110A probably benign Het
Or5e1 A T 7: 108,355,003 (GRCm39) probably benign Het
Phtf2 T C 5: 20,969,273 (GRCm39) N679S probably damaging Het
Polq G A 16: 36,911,411 (GRCm39) R2382K probably benign Het
Recql4 C T 15: 76,590,468 (GRCm39) R672Q probably benign Het
Selenbp2 A G 3: 94,606,945 (GRCm39) N197S probably damaging Het
Sirpb1a C A 3: 15,491,388 (GRCm39) probably null Het
Slc12a2 T A 18: 58,054,856 (GRCm39) D832E probably benign Het
Slc13a1 G A 6: 24,118,002 (GRCm39) A245V probably damaging Het
Unc80 A G 1: 66,548,633 (GRCm39) D635G probably damaging Het
Utp18 T C 11: 93,766,882 (GRCm39) Q275R probably damaging Het
Wdr35 A G 12: 9,058,692 (GRCm39) probably null Het
Zfyve26 A G 12: 79,342,338 (GRCm39) V36A probably damaging Het
Other mutations in Or51a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Or51a8 APN 7 102,550,472 (GRCm39) missense possibly damaging 0.96
IGL02307:Or51a8 APN 7 102,550,086 (GRCm39) missense probably benign 0.00
IGL02705:Or51a8 APN 7 102,550,449 (GRCm39) missense probably damaging 1.00
IGL03028:Or51a8 APN 7 102,550,036 (GRCm39) missense possibly damaging 0.81
PIT4434001:Or51a8 UTSW 7 102,549,837 (GRCm39) missense probably benign 0.12
R1155:Or51a8 UTSW 7 102,549,819 (GRCm39) missense probably benign 0.00
R6603:Or51a8 UTSW 7 102,549,621 (GRCm39) missense probably benign 0.01
R7116:Or51a8 UTSW 7 102,549,842 (GRCm39) missense probably benign 0.20
R7329:Or51a8 UTSW 7 102,550,039 (GRCm39) missense probably damaging 0.97
R7471:Or51a8 UTSW 7 102,549,760 (GRCm39) missense probably benign 0.10
R8020:Or51a8 UTSW 7 102,550,472 (GRCm39) missense possibly damaging 0.96
R9649:Or51a8 UTSW 7 102,549,652 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02