Incidental Mutation 'IGL02074:Olfr543'
ID185945
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: 0.063) question?
Stock #IGL02074
Quality Score
Status
Chromosome7
Chromosomal Location102476579-102481679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 102477472 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 133 (H133N)
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 probably benign
Transcript: ENSMUST00000061482
AA Change: H133N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: H133N

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 probably benign
Transcript: ENSMUST00000219647
AA Change: H133N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,293,350 S974G probably benign Het
Abi2 T C 1: 60,447,307 V209A probably damaging Het
Ankrd33b C A 15: 31,297,661 V317F probably damaging Het
Arcn1 A G 9: 44,759,012 C106R probably benign Het
Arhgap35 T C 7: 16,563,055 H695R probably benign Het
Bag4 G T 8: 25,769,355 T272K possibly damaging Het
Cnot6 T C 11: 49,689,243 H74R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dab1 C A 4: 104,727,854 A397D possibly damaging Het
Dhrs7b C A 11: 60,851,754 Q91K probably benign Het
Dixdc1 C T 9: 50,702,017 V212M probably benign Het
Eea1 A G 10: 96,037,487 E1137G probably damaging Het
Ercc8 T C 13: 108,158,784 probably benign Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fgd6 A T 10: 94,127,435 I1132F probably damaging Het
Grin1 C T 2: 25,298,502 V432I possibly damaging Het
Herc1 A G 9: 66,450,983 S2449G probably benign Het
Herc2 T A 7: 56,087,444 probably benign Het
L1cam A G X: 73,863,013 W275R probably damaging Het
Lrrc6 T C 15: 66,489,490 N54S probably damaging Het
Magi1 A G 6: 93,745,598 V660A probably damaging Het
Mctp2 A T 7: 72,161,258 I656K probably damaging Het
Mtcl1 T C 17: 66,366,468 D633G possibly damaging Het
Nexmif A T X: 104,087,891 M140K probably damaging Het
Olfr853 A T 9: 19,537,852 I26N possibly damaging Het
Olfr930 A T 9: 38,930,683 T171S probably benign Het
R3hdm1 A G 1: 128,169,038 T146A possibly damaging Het
Rnf123 A T 9: 108,066,889 L508Q probably damaging Het
Scaf4 G T 16: 90,242,920 P812T unknown Het
Slc45a2 A G 15: 11,000,817 M1V probably null Het
Ttr T C 18: 20,666,523 V46A probably benign Het
Ubxn8 T C 8: 33,623,178 K216R possibly damaging Het
Vmn2r109 T C 17: 20,554,341 I251V probably benign Het
Xlr A T X: 53,796,134 probably benign Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Other mutations in Olfr543
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Olfr543 APN 7 102477166 missense possibly damaging 0.57
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