Incidental Mutation 'IGL01024:Or8b57'
ID 53786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b57
Ensembl Gene ENSMUSG00000044205
Gene Name olfactory receptor family 8 subfamily B member 57
Synonyms MOR162-1, GA_x6K02T2PVTD-33790948-33790013, Olfr983
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL01024
Quality Score
Status
Chromosome 9
Chromosomal Location 40003313-40004854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40004029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 78 (S78P)
Ref Sequence ENSEMBL: ENSMUSP00000083206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050996] [ENSMUST00000213087] [ENSMUST00000213858] [ENSMUST00000214856] [ENSMUST00000217536]
AlphaFold Q8VG90
Predicted Effect probably damaging
Transcript: ENSMUST00000050996
AA Change: S78P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000083206
Gene: ENSMUSG00000044205
AA Change: S78P

DomainStartEndE-ValueType
Pfam:7tm_4 35 311 2e-48 PFAM
Pfam:7TM_GPCR_Srsx 39 307 3.1e-5 PFAM
Pfam:7tm_1 45 293 1.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213087
AA Change: S74P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000213858
Predicted Effect probably benign
Transcript: ENSMUST00000214856
Predicted Effect probably benign
Transcript: ENSMUST00000217536
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,767,040 (GRCm39) V209A probably benign Het
Abca6 T A 11: 110,087,968 (GRCm39) Y1053F probably benign Het
Acot12 C T 13: 91,929,330 (GRCm39) Q386* probably null Het
Adamts16 A G 13: 70,943,603 (GRCm39) V336A probably benign Het
Ankrd49 A G 9: 14,694,099 (GRCm39) F23L probably damaging Het
Aspm A T 1: 139,405,862 (GRCm39) H1583L possibly damaging Het
Atp6v0a1 A G 11: 100,939,265 (GRCm39) I677V probably benign Het
Brinp1 A T 4: 68,680,731 (GRCm39) W600R probably damaging Het
Ccdc185 T C 1: 182,574,988 (GRCm39) E567G possibly damaging Het
Clip2 T C 5: 134,539,066 (GRCm39) D445G probably damaging Het
Elp5 T C 11: 69,859,248 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,570 (GRCm39) M1V probably null Het
Gtf2a1l A G 17: 88,978,719 (GRCm39) K40R probably damaging Het
Hdc A G 2: 126,445,766 (GRCm39) V246A probably benign Het
Hectd2 T A 19: 36,583,793 (GRCm39) F479L probably damaging Het
Hipk1 G T 3: 103,667,952 (GRCm39) N538K probably benign Het
Kif27 T A 13: 58,436,015 (GRCm39) E1259D possibly damaging Het
Klhdc2 T A 12: 69,352,610 (GRCm39) N256K probably benign Het
Krt71 C T 15: 101,645,109 (GRCm39) A401T probably damaging Het
Mapk3 A T 7: 126,363,946 (GRCm39) K312* probably null Het
Med12l G T 3: 58,980,762 (GRCm39) S365I probably damaging Het
Mgam A G 6: 40,619,944 (GRCm39) K11R probably benign Het
Nox3 A T 17: 3,733,290 (GRCm39) I187N probably damaging Het
Nudcd1 T A 15: 44,284,222 (GRCm39) M55L probably benign Het
Or1a1b A T 11: 74,097,481 (GRCm39) L187Q probably damaging Het
Or4f59 A T 2: 111,872,716 (GRCm39) F220L probably benign Het
Pard6g T C 18: 80,123,037 (GRCm39) probably benign Het
Pbrm1 G A 14: 30,774,217 (GRCm39) R461H probably damaging Het
Ppm1f C A 16: 16,741,633 (GRCm39) T369K probably benign Het
Ppp1r16b C T 2: 158,582,736 (GRCm39) probably benign Het
Pramel29 A T 4: 143,935,045 (GRCm39) I232K possibly damaging Het
Prom2 T C 2: 127,383,059 (GRCm39) N61S probably benign Het
Psmc2 T C 5: 22,006,196 (GRCm39) probably benign Het
Psme2 A G 14: 55,825,893 (GRCm39) probably benign Het
Ptprc T C 1: 138,008,650 (GRCm39) H655R probably damaging Het
Pxdn A C 12: 30,037,098 (GRCm39) N292T probably damaging Het
Rapgef2 T C 3: 78,977,445 (GRCm39) I1301V probably benign Het
Rnase11 T C 14: 51,287,321 (GRCm39) I78V probably benign Het
Rpl41 A G 10: 128,384,246 (GRCm39) probably benign Het
Sgf29 G A 7: 126,264,103 (GRCm39) R56Q possibly damaging Het
Sis A G 3: 72,819,209 (GRCm39) L1449S probably damaging Het
Slc34a2 T A 5: 53,224,972 (GRCm39) V371D possibly damaging Het
Son C A 16: 91,452,798 (GRCm39) T515K probably damaging Het
Tbx15 A T 3: 99,223,562 (GRCm39) D250V probably damaging Het
Thoc2l T G 5: 104,669,612 (GRCm39) V1378G probably benign Het
Tmem171 T A 13: 98,823,026 (GRCm39) probably null Het
Ugt2b36 C T 5: 87,228,728 (GRCm39) probably null Het
Vill G A 9: 118,899,418 (GRCm39) probably null Het
Vmn2r22 A G 6: 123,615,012 (GRCm39) F193L probably damaging Het
Vmn2r95 C T 17: 18,672,590 (GRCm39) probably benign Het
Vstm2a T A 11: 16,231,874 (GRCm39) V223D possibly damaging Het
Other mutations in Or8b57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Or8b57 APN 9 40,003,324 (GRCm39) missense possibly damaging 0.90
IGL01892:Or8b57 APN 9 40,004,114 (GRCm39) missense probably damaging 1.00
IGL02712:Or8b57 APN 9 40,004,082 (GRCm39) missense probably damaging 0.99
R0025:Or8b57 UTSW 9 40,003,549 (GRCm39) missense probably damaging 1.00
R0066:Or8b57 UTSW 9 40,003,983 (GRCm39) missense possibly damaging 0.74
R0136:Or8b57 UTSW 9 40,003,315 (GRCm39) makesense probably null
R0715:Or8b57 UTSW 9 40,003,807 (GRCm39) missense probably damaging 1.00
R2345:Or8b57 UTSW 9 40,003,849 (GRCm39) missense probably benign 0.09
R3432:Or8b57 UTSW 9 40,003,845 (GRCm39) missense probably damaging 1.00
R5027:Or8b57 UTSW 9 40,003,690 (GRCm39) missense probably damaging 1.00
R6874:Or8b57 UTSW 9 40,004,022 (GRCm39) missense probably benign 0.22
R7818:Or8b57 UTSW 9 40,004,008 (GRCm39) missense probably damaging 1.00
R7823:Or8b57 UTSW 9 40,003,644 (GRCm39) missense probably damaging 1.00
R8304:Or8b57 UTSW 9 40,003,650 (GRCm39) missense probably damaging 1.00
R8337:Or8b57 UTSW 9 40,003,695 (GRCm39) missense probably benign 0.00
R9276:Or8b57 UTSW 9 40,003,632 (GRCm39) missense possibly damaging 0.88
R9318:Or8b57 UTSW 9 40,004,112 (GRCm39) missense possibly damaging 0.81
R9631:Or8b57 UTSW 9 40,004,223 (GRCm39) missense probably damaging 0.98
Posted On 2013-06-28