Incidental Mutation 'IGL01929:Olfr543'
ID180378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr543
Ensembl Gene ENSMUSG00000044814
Gene Nameolfactory receptor 543
SynonymsMOR42-2, GA_x6K02T2PBJ9-5199377-5198367
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL01929
Quality Score
Status
Chromosome7
Chromosomal Location102476579-102481679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102477166 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 235 (S235P)
Ref Sequence ENSEMBL: ENSMUSP00000151487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051201] [ENSMUST00000061482] [ENSMUST00000219647]
Predicted Effect probably benign
Transcript: ENSMUST00000051201
SMART Domains Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925

DomainStartEndE-ValueType
Pfam:7tm_4 35 314 1.2e-73 PFAM
Pfam:7TM_GPCR_Srsx 39 311 6.3e-8 PFAM
Pfam:7tm_1 45 296 2.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000061482
AA Change: S235P

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: S235P

DomainStartEndE-ValueType
Pfam:7tm_4 36 315 1.5e-70 PFAM
Pfam:7TM_GPCR_Srsx 40 312 1.3e-8 PFAM
Pfam:7tm_1 46 332 1.5e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219647
AA Change: S235P

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,344,138 P467S probably benign Het
Areg T C 5: 91,144,453 I204T probably benign Het
Dnah3 A T 7: 119,951,651 Y3137* probably null Het
Dnajc10 T G 2: 80,328,076 C270W probably damaging Het
Epc1 A G 18: 6,449,217 F427L possibly damaging Het
Fcgbp A T 7: 28,103,963 D1664V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm4951 A G 18: 60,246,482 E363G probably benign Het
Gm6686 G A 17: 15,566,315 probably benign Het
Grik4 C A 9: 42,566,298 probably null Het
H2-Oa G A 17: 34,094,082 probably null Het
Il20ra T G 10: 19,759,271 L420R probably benign Het
Kcnk2 A G 1: 189,340,030 S34P probably damaging Het
Klc4 A G 17: 46,644,247 probably null Het
Large1 T C 8: 72,859,275 Y401C probably damaging Het
Lrrc59 T C 11: 94,643,516 V300A possibly damaging Het
Myom2 T A 8: 15,117,698 D1094E probably damaging Het
Nfrkb T A 9: 31,419,873 I1230N possibly damaging Het
Prr14l T C 5: 32,828,243 T146A probably benign Het
Psmd5 A G 2: 34,863,466 V221A probably damaging Het
Ptchd4 A T 17: 42,503,322 T705S probably benign Het
Ptprm G A 17: 66,690,549 A1184V probably damaging Het
Rb1cc1 G T 1: 6,240,159 K260N possibly damaging Het
Rbm28 T A 6: 29,128,585 D46V possibly damaging Het
Sdk1 T C 5: 141,953,030 Y403H probably damaging Het
Slco3a1 A G 7: 74,318,605 probably benign Het
Slfn8 T A 11: 83,003,405 K803* probably null Het
Vmn2r82 A T 10: 79,378,711 D176V probably damaging Het
Vmn2r-ps130 A T 17: 23,076,877 I674F possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr70 A T 15: 7,920,634 probably null Het
Xdh A T 17: 73,934,855 C150S probably damaging Het
Xpo5 G T 17: 46,202,929 M3I probably benign Het
Other mutations in Olfr543
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02074:Olfr543 APN 7 102477472 missense probably benign 0.13
IGL02104:Olfr543 APN 7 102477337 missense probably damaging 1.00
IGL02124:Olfr543 APN 7 102477535 missense possibly damaging 0.63
R0014:Olfr543 UTSW 7 102477477 missense probably damaging 1.00
R1694:Olfr543 UTSW 7 102477340 missense probably benign 0.11
R1826:Olfr543 UTSW 7 102477513 missense probably damaging 1.00
R1827:Olfr543 UTSW 7 102477513 missense probably damaging 1.00
R1828:Olfr543 UTSW 7 102477513 missense probably damaging 1.00
R2496:Olfr543 UTSW 7 102477147 missense probably damaging 1.00
R5117:Olfr543 UTSW 7 102477502 missense probably damaging 1.00
R5859:Olfr543 UTSW 7 102477750 missense possibly damaging 0.89
R6344:Olfr543 UTSW 7 102477531 missense probably damaging 1.00
R7031:Olfr543 UTSW 7 102477850 missense probably benign 0.03
R7426:Olfr543 UTSW 7 102477676 missense probably damaging 1.00
R7521:Olfr543 UTSW 7 102477195 missense possibly damaging 0.75
R7621:Olfr543 UTSW 7 102477265 missense possibly damaging 0.93
Posted On2014-05-07