Incidental Mutation 'R5859:Olfr543'
ID455065
Institutional Source Beutler Lab
Gene Symbol Olfr543
Ensembl Gene ENSMUSG00000044814
Gene Nameolfactory receptor 543
SynonymsMOR42-2, GA_x6K02T2PBJ9-5199377-5198367
MMRRC Submission 044071-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #R5859 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location102476579-102481679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102477750 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 40 (Y40C)
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: Y40C

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: Y40C

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: Y40C

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.0588 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency 93% (70/75)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,813,461 V150E probably benign Het
Alg11 A G 8: 22,065,841 K373E probably benign Het
Arl14ep C T 2: 106,969,053 probably benign Het
Ascc2 G A 11: 4,658,284 G227R probably benign Het
Ash1l C T 3: 89,068,993 P2627S probably damaging Het
Btla T G 16: 45,239,039 probably null Het
Btnl10 C T 11: 58,922,312 P256S probably benign Het
Cep162 C T 9: 87,204,092 A1060T probably damaging Het
Cfap54 T A 10: 93,016,524 K907* probably null Het
Chpf A T 1: 75,475,428 F461I probably damaging Het
Chrdl2 A G 7: 100,020,907 Y79C probably damaging Het
Copb2 G A 9: 98,568,108 C40Y probably benign Het
Cyfip1 T C 7: 55,925,181 L1060P probably damaging Het
Drg1 G A 11: 3,259,273 probably benign Het
Erich3 A G 3: 154,762,497 D862G possibly damaging Het
Flii G T 11: 60,716,311 Y946* probably null Het
Glt8d2 T C 10: 82,672,081 M1V probably null Het
Gm21136 T A 7: 38,867,741 noncoding transcript Het
Gramd1c T C 16: 43,992,091 T393A possibly damaging Het
Gucy2d T A 7: 98,451,883 I471N probably benign Het
Hps3 G A 3: 20,008,870 T711M probably benign Het
Hs3st4 A T 7: 123,983,608 D143V probably benign Het
Kif17 T A 4: 138,291,433 M461K possibly damaging Het
Klhdc7a T A 4: 139,967,574 S21C probably damaging Het
Klk15 G A 7: 43,938,376 R76H probably benign Het
Lnpk G A 2: 74,569,028 T57I possibly damaging Het
Ltbp2 A G 12: 84,794,063 V999A possibly damaging Het
Ltbr T C 6: 125,312,808 H141R probably damaging Het
Lvrn T C 18: 46,893,749 F805L probably damaging Het
Ms4a13 A T 19: 11,183,916 C86* probably null Het
Ncbp1 A G 4: 46,163,026 N480S probably benign Het
Nelfcd T G 2: 174,427,063 *592G probably null Het
Neurog2 T C 3: 127,634,015 V96A probably benign Het
Nod1 A T 6: 54,930,177 W902R probably benign Het
Olfr103 T C 17: 37,336,369 I288V possibly damaging Het
Olfr213 T C 6: 116,540,900 L149P probably damaging Het
Olfr726 T A 14: 50,084,027 Y218F probably damaging Het
Pcdha11 A T 18: 37,007,283 H655L probably damaging Het
Plpp7 A G 2: 32,095,984 E58G probably benign Het
Psph A T 5: 129,790,621 probably benign Het
Rab11fip1 A C 8: 27,154,720 S346A probably damaging Het
Rreb1 C A 13: 37,947,408 P1513T probably benign Het
Rreb1 C T 13: 37,947,409 P1513L probably benign Het
Rsf1 C T 7: 97,685,559 R1300C probably damaging Het
Scap A G 9: 110,374,047 N263S probably benign Het
Sec24d A T 3: 123,279,312 probably benign Het
Slain2 T C 5: 72,948,545 probably benign Het
Slc6a18 G T 13: 73,668,159 T367N probably benign Het
Slk T A 19: 47,609,042 D96E probably benign Het
Spag5 G A 11: 78,313,534 V514I probably benign Het
St8sia2 T C 7: 73,966,906 D107G probably damaging Het
Tgfbr3 T A 5: 107,140,515 I427F probably benign Het
Tlr2 T G 3: 83,836,503 T758P possibly damaging Het
Tmem270 A G 5: 134,902,884 V68A probably benign Het
Vmn2r106 T A 17: 20,285,321 H37L possibly damaging Het
Vmn2r27 T G 6: 124,200,688 R452S probably damaging Het
Wdr5 A G 2: 27,533,350 Y252C probably damaging Het
Zswim9 C T 7: 13,261,445 V262M probably damaging Het
Other mutations in Olfr543
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Olfr543 APN 7 102477166 missense possibly damaging 0.57
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
R6344:Olfr543 UTSW 7 102477531 missense probably damaging 1.00
R7031:Olfr543 UTSW 7 102477850 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACATTTGTGTGAGGCAGCCG -3'
(R):5'- TTCCCATCATGTGAGCCTCAG -3'

Sequencing Primer
(F):5'- CAGCCGCGGAGTGAGATG -3'
(R):5'- AATAACCATTTTGTTCTAACAGCCCC -3'
Posted On2017-02-10