Incidental Mutation 'IGL03259:Olfr57'
ID414746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr57
Ensembl Gene ENSMUSG00000060205
Gene Nameolfactory receptor 57
SynonymsGA_x6K02T2QGN0-2777431-2776472, IF12, MOR139-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL03259
Quality Score
Status
Chromosome10
Chromosomal Location79028741-79036274 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 79035400 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 201 (Y201*)
Ref Sequence ENSEMBL: ENSMUSP00000144814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082244] [ENSMUST00000203906]
Predicted Effect probably null
Transcript: ENSMUST00000082244
AA Change: Y201*
SMART Domains Protein: ENSMUSP00000080872
Gene: ENSMUSG00000060205
AA Change: Y201*

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2.2e-49 PFAM
Pfam:7tm_1 42 291 6e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000203906
AA Change: Y201*
SMART Domains Protein: ENSMUSP00000144814
Gene: ENSMUSG00000060205
AA Change: Y201*

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
Pfam:7tm_4 32 308 2e-49 PFAM
Pfam:7tm_1 42 291 1.9e-23 PFAM
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 T C 5: 67,624,006 probably null Het
Btbd3 T C 2: 138,279,760 M121T probably damaging Het
Cep192 A T 18: 67,820,412 N500I probably damaging Het
Clca4a A G 3: 144,958,080 L534P probably damaging Het
Cyp2d11 C T 15: 82,390,020 V387M probably damaging Het
Dlgap3 T C 4: 127,200,284 I443T probably benign Het
Heatr5b T A 17: 78,791,556 D1305V probably damaging Het
Hps5 G T 7: 46,763,102 P1021Q probably damaging Het
Iqca T C 1: 90,052,434 D637G probably damaging Het
Kank1 A G 19: 25,430,341 D1233G probably damaging Het
Lad1 A T 1: 135,827,656 R223S probably benign Het
Ms4a13 A G 19: 11,183,846 S110P probably damaging Het
Nmd3 T A 3: 69,745,243 D387E possibly damaging Het
Olfr1087 G T 2: 86,690,550 Q142K probably benign Het
Olfr24 A G 9: 18,755,515 V40A probably benign Het
Pcgf5 T A 19: 36,455,659 D234E probably benign Het
Pcnx2 T A 8: 125,753,649 H1973L probably benign Het
Peak1 A G 9: 56,259,967 F226L probably damaging Het
Pgp A G 17: 24,471,048 K180R probably damaging Het
Sdk1 A T 5: 141,953,033 K404* probably null Het
Serinc5 T A 13: 92,690,992 V272D probably damaging Het
Slc4a5 A G 6: 83,270,997 H395R probably damaging Het
Spice1 T A 16: 44,356,167 V40D probably damaging Het
Syne2 A G 12: 75,989,079 I3713M probably benign Het
Vmn1r58 A T 7: 5,411,087 L48* probably null Het
Vwa7 A G 17: 35,020,026 probably null Het
Other mutations in Olfr57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Olfr57 APN 10 79035611 missense probably benign 0.05
IGL02230:Olfr57 APN 10 79035042 missense probably damaging 0.99
IGL02283:Olfr57 APN 10 79035545 missense probably damaging 1.00
IGL02878:Olfr57 APN 10 79035558 missense probably benign 0.23
IGL02975:Olfr57 APN 10 79035033 missense possibly damaging 0.83
R1366:Olfr57 UTSW 10 79035042 missense probably damaging 1.00
R1438:Olfr57 UTSW 10 79035288 missense possibly damaging 0.88
R1528:Olfr57 UTSW 10 79035564 missense probably damaging 0.96
R1601:Olfr57 UTSW 10 79035504 missense possibly damaging 0.56
R2032:Olfr57 UTSW 10 79035329 missense possibly damaging 0.86
R2112:Olfr57 UTSW 10 79035414 missense probably damaging 1.00
R2382:Olfr57 UTSW 10 79035134 missense possibly damaging 0.52
R2967:Olfr57 UTSW 10 79035053 missense probably damaging 1.00
R3773:Olfr57 UTSW 10 79035180 missense possibly damaging 0.95
R3940:Olfr57 UTSW 10 79035204 missense probably damaging 1.00
R4405:Olfr57 UTSW 10 79035410 missense probably benign
R5944:Olfr57 UTSW 10 79035389 missense probably benign 0.00
R6563:Olfr57 UTSW 10 79035217 missense possibly damaging 0.67
R6614:Olfr57 UTSW 10 79035091 nonsense probably null
R7181:Olfr57 UTSW 10 79035453 missense probably damaging 0.98
R7639:Olfr57 UTSW 10 79035372 missense probably damaging 0.99
Posted On2016-08-02