Incidental Mutation 'R1036:Ptgdr'
Institutional Source Beutler Lab
Gene Symbol Ptgdr
Ensembl Gene ENSMUSG00000071489
Gene Nameprostaglandin D receptor
MMRRC Submission 039135-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1036 (G1)
Quality Score170
Status Validated
Chromosomal Location44851235-44859375 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44859115 bp
Amino Acid Change Serine to Proline at position 47 (S47P)
Ref Sequence ENSEMBL: ENSMUSP00000093653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095959]
Predicted Effect probably damaging
Transcript: ENSMUST00000095959
AA Change: S47P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093653
Gene: ENSMUSG00000071489
AA Change: S47P

low complexity region 22 46 N/A INTRINSIC
Pfam:7tm_1 54 319 1.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227507
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 86.2%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display a reduced inflammatory response to airborn allergens and reduced susceptibility to passive cutaneous anaphylaxis induced by IgE antigen challenge due to impaired mast cell degranulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 76,876,283 T174M probably damaging Het
Abca12 A G 1: 71,263,410 probably null Het
Abcg1 C A 17: 31,111,269 Q515K probably damaging Het
Acaa1b A T 9: 119,150,816 probably benign Het
Adamts3 T C 5: 89,696,093 probably benign Het
Aoah A C 13: 20,840,169 probably benign Het
Arhgap10 G A 8: 77,310,769 P610L probably damaging Het
Casq2 G T 3: 102,142,215 A295S probably damaging Het
Col6a4 A G 9: 106,068,198 Y906H probably damaging Het
Dcaf13 T A 15: 39,143,718 I349N probably damaging Het
Ecd A G 14: 20,333,318 probably benign Het
Enpep C A 3: 129,284,109 V620L probably damaging Het
Fbln7 A G 2: 128,893,895 S268G possibly damaging Het
Fcho1 C T 8: 71,712,560 A418T probably benign Het
Gatd1 T A 7: 141,409,132 T205S probably damaging Het
Gbe1 T A 16: 70,528,887 V604E probably damaging Het
Ghsr T A 3: 27,374,720 I298N probably damaging Het
Glis1 T C 4: 107,632,264 Y683H probably benign Het
Gm597 A G 1: 28,777,802 L383P probably benign Het
Gpr162 T A 6: 124,860,860 I276F probably damaging Het
Hps6 A G 19: 46,004,241 T206A probably benign Het
Kcnk10 T C 12: 98,496,186 probably benign Het
Krt90 A G 15: 101,562,716 V37A probably benign Het
Lmbr1 T C 5: 29,258,747 K160E probably damaging Het
Nif3l1 A G 1: 58,447,873 T73A probably damaging Het
Nup107 A T 10: 117,757,294 D826E probably damaging Het
Nup210l C T 3: 90,192,940 probably benign Het
Omd A G 13: 49,589,971 R166G probably damaging Het
Plekha4 T C 7: 45,549,976 probably benign Het
Sec24c A G 14: 20,692,897 I940V probably benign Het
Shkbp1 A G 7: 27,345,296 S457P possibly damaging Het
Skint1 T C 4: 112,019,296 V138A possibly damaging Het
Slc38a9 A G 13: 112,701,659 probably benign Het
Srsf7 A T 17: 80,205,837 probably benign Het
Stau1 T C 2: 166,951,315 K300R probably damaging Het
Stox1 A T 10: 62,667,895 I127K probably damaging Het
Sympk G A 7: 19,048,453 R832Q probably damaging Het
Usp3 A G 9: 66,530,231 probably benign Het
Other mutations in Ptgdr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02548:Ptgdr APN 14 44858614 missense probably damaging 1.00
R1368:Ptgdr UTSW 14 44853342 missense probably damaging 1.00
R1649:Ptgdr UTSW 14 44858502 missense probably benign
R1785:Ptgdr UTSW 14 44858579 nonsense probably null
R1786:Ptgdr UTSW 14 44858579 nonsense probably null
R1921:Ptgdr UTSW 14 44853281 missense probably benign 0.00
R2312:Ptgdr UTSW 14 44859162 missense probably damaging 1.00
R4867:Ptgdr UTSW 14 44858796 missense probably damaging 1.00
R5198:Ptgdr UTSW 14 44858843 missense probably damaging 1.00
R6917:Ptgdr UTSW 14 44858610 missense possibly damaging 0.81
R7186:Ptgdr UTSW 14 44858944 missense probably damaging 1.00
R7291:Ptgdr UTSW 14 44859192 missense possibly damaging 0.69
R7399:Ptgdr UTSW 14 44858232 intron probably null
R7612:Ptgdr UTSW 14 44858637 missense probably damaging 0.98
R7763:Ptgdr UTSW 14 44859078 missense probably damaging 0.99
R7850:Ptgdr UTSW 14 44853371 missense probably benign 0.05
R7933:Ptgdr UTSW 14 44853371 missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-01-05