Incidental Mutation 'IGL02307:Or51a8'
ID 287639
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 # IGL02307
Quality Score
Status
Chromosome 7
Chromosomal Location 102549549-102550593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102550086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 171 (N171Y)
Ref Sequence ENSEMBL: ENSMUSP00000148181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098215] [ENSMUST00000209778] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold Q8VH12
Predicted Effect probably benign
Transcript: ENSMUST00000098215
AA Change: N171Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095817
Gene: ENSMUSG00000073964
AA Change: N171Y

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 benign
Transcript: ENSMUST00000209778
AA Change: N171Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Ankrd28 A G 14: 31,455,665 (GRCm39) C417R probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Bdp1 C A 13: 100,229,946 (GRCm39) G256V probably damaging Het
Cald1 A G 6: 34,730,390 (GRCm39) K252E probably damaging Het
Ccdc141 T C 2: 76,859,686 (GRCm39) E985G probably damaging Het
Cdc23 A G 18: 34,774,442 (GRCm39) I279T possibly damaging Het
Col16a1 C T 4: 129,952,802 (GRCm39) P416L probably damaging Het
Coro1a T C 7: 126,300,736 (GRCm39) D197G probably damaging Het
Ctnnd2 C T 15: 30,647,357 (GRCm39) T351I possibly damaging Het
Fam76b A G 9: 13,755,332 (GRCm39) N313S probably damaging Het
Fbxw20 C A 9: 109,062,601 (GRCm39) W75L possibly damaging Het
Gjd2 T C 2: 113,842,394 (GRCm39) T28A possibly damaging Het
Glyctk A C 9: 106,032,963 (GRCm39) L350R possibly damaging Het
Gm20726 A T 14: 54,870,060 (GRCm39) V237D probably damaging Het
Gm57858 T C 3: 36,073,016 (GRCm39) K422R possibly damaging Het
Gpr22 C A 12: 31,758,739 (GRCm39) C461F possibly damaging Het
Grhl2 A G 15: 37,288,532 (GRCm39) T279A probably damaging Het
Gstm3 G A 3: 107,874,929 (GRCm39) R108C probably damaging Het
Haus6 T C 4: 86,502,072 (GRCm39) T600A possibly damaging Het
Htra4 G A 8: 25,523,710 (GRCm39) A285V probably damaging Het
Igkv14-100 C T 6: 68,496,349 (GRCm39) P81S probably damaging Het
Kif24 T G 4: 41,395,274 (GRCm39) Q533P probably benign Het
Klhl1 A T 14: 96,438,809 (GRCm39) N496K possibly damaging Het
Lama3 G T 18: 12,714,840 (GRCm39) R1667L probably benign Het
Lct T A 1: 128,214,327 (GRCm39) H1815L possibly damaging Het
Mrgprb2 T A 7: 48,202,644 (GRCm39) Y27F probably benign Het
Mrpl15 A T 1: 4,854,176 (GRCm39) H86Q possibly damaging Het
Myo10 C T 15: 25,776,401 (GRCm39) probably benign Het
Nrp1 T C 8: 129,229,201 (GRCm39) L893P probably damaging Het
Or4n4b A C 14: 50,536,295 (GRCm39) I157S probably damaging Het
Ovol1 T A 19: 5,603,643 (GRCm39) D86V possibly damaging Het
Pacs2 T A 12: 113,034,393 (GRCm39) M851K probably damaging Het
Pde1a A T 2: 79,736,412 (GRCm39) M39K possibly damaging Het
Pdpn T C 4: 143,000,550 (GRCm39) H94R possibly damaging Het
Plcg2 T A 8: 118,306,635 (GRCm39) probably null Het
Pzp A T 6: 128,466,049 (GRCm39) Y1210* probably null Het
Rnf148 G T 6: 23,654,890 (GRCm39) S35R probably benign Het
Ros1 A T 10: 52,004,534 (GRCm39) S1008T possibly damaging Het
Rps18-ps6 G T 13: 97,896,871 (GRCm39) Q76K probably benign Het
Sis A T 3: 72,819,167 (GRCm39) probably benign Het
Spag9 T A 11: 93,992,986 (GRCm39) probably null Het
Srbd1 A G 17: 86,433,616 (GRCm39) L327P probably damaging Het
Steap3 A T 1: 120,169,390 (GRCm39) Y264* probably null Het
Swap70 A G 7: 109,880,501 (GRCm39) E572G probably benign Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trmt11 T C 10: 30,470,150 (GRCm39) D58G possibly damaging Het
Tsc22d1 T C 14: 76,653,901 (GRCm39) S127P probably damaging Het
Usf1 T A 1: 171,243,314 (GRCm39) S30R probably damaging Het
Ush1c A G 7: 45,846,612 (GRCm39) probably benign Het
Utrn A T 10: 12,625,809 (GRCm39) L124* probably null Het
Vmn2r75 T C 7: 85,814,974 (GRCm39) N173S probably benign Het
Zic2 T C 14: 122,714,046 (GRCm39) V320A possibly damaging Het
Other mutations in Or51a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Or51a8 APN 7 102,550,472 (GRCm39) missense possibly damaging 0.96
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
IGL03086:Or51a8 APN 7 102,549,613 (GRCm39) missense probably damaging 1.00
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 2015-04-16