Incidental Mutation 'IGL00930:Olfr854'
ID28174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr854
Ensembl Gene ENSMUSG00000095667
Gene Nameolfactory receptor 854
SynonymsMOR147-3, GA_x6K02T2PVTD-13313295-13312357
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.279) question?
Stock #IGL00930
Quality Score
Status
Chromosome9
Chromosomal Location19566435-19567382 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 19567175 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 67 (S67P)
Ref Sequence ENSEMBL: ENSMUSP00000148270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072419] [ENSMUST00000212872]
Predicted Effect probably damaging
Transcript: ENSMUST00000072419
AA Change: S70P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072248
Gene: ENSMUSG00000095667
AA Change: S70P

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 2.3e-51 PFAM
Pfam:7TM_GPCR_Srsx 38 308 9.6e-7 PFAM
Pfam:7tm_1 44 293 1.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212872
AA Change: S67P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,592,310 S534P possibly damaging Het
Adamts15 G A 9: 30,902,053 P939S probably damaging Het
Alms1 T C 6: 85,601,310 S207P probably damaging Het
Chd7 A G 4: 8,805,181 K747E probably damaging Het
Dock5 G T 14: 67,771,077 N1457K probably damaging Het
Donson T C 16: 91,682,591 E323G possibly damaging Het
Epc1 T A 18: 6,449,196 M434L probably benign Het
Fcer1a A G 1: 173,222,533 probably benign Het
Hemgn A T 4: 46,396,383 C284* probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Pcdh15 G A 10: 74,630,698 E1450K probably benign Het
Pfpl A T 19: 12,429,645 H420L probably benign Het
Pitpnm2 A G 5: 124,121,663 probably benign Het
Pole2 A G 12: 69,226,445 probably benign Het
Prmt3 T A 7: 49,792,009 Y245N probably damaging Het
Rpl10a T C 17: 28,329,007 Y41H probably damaging Het
Tpst1 A T 5: 130,102,134 K148N probably benign Het
Vmn1r199 A G 13: 22,382,859 T108A possibly damaging Het
Wdr7 T A 18: 63,740,244 C525* probably null Het
Zfp646 A G 7: 127,879,130 T160A possibly damaging Het
Other mutations in Olfr854
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Olfr854 APN 9 19566949 missense probably benign 0.00
IGL02156:Olfr854 APN 9 19567198 missense probably damaging 1.00
IGL02187:Olfr854 APN 9 19567097 missense probably benign 0.16
IGL02252:Olfr854 APN 9 19566971 missense probably damaging 0.99
R0519:Olfr854 UTSW 9 19566949 missense probably benign 0.21
R0755:Olfr854 UTSW 9 19567119 missense possibly damaging 0.94
R0899:Olfr854 UTSW 9 19566547 missense probably damaging 1.00
R1832:Olfr854 UTSW 9 19567196 missense possibly damaging 0.88
R2115:Olfr854 UTSW 9 19567322 missense probably benign 0.12
R4326:Olfr854 UTSW 9 19567022 missense possibly damaging 0.95
R4328:Olfr854 UTSW 9 19567022 missense possibly damaging 0.95
R4329:Olfr854 UTSW 9 19567022 missense possibly damaging 0.95
R4379:Olfr854 UTSW 9 19566742 missense probably benign 0.15
R4381:Olfr854 UTSW 9 19566742 missense probably benign 0.15
R5576:Olfr854 UTSW 9 19567073 missense probably benign
R6102:Olfr854 UTSW 9 19567022 missense possibly damaging 0.87
R7449:Olfr854 UTSW 9 19566866 missense probably benign 0.06
R7515:Olfr854 UTSW 9 19566653 missense probably damaging 1.00
R8143:Olfr854 UTSW 9 19567291 missense probably benign 0.04
Z1176:Olfr854 UTSW 9 19566526 missense probably damaging 1.00
Posted On2013-04-17