Incidental Mutation 'R2312:Ptgdr'
ID 247366
Institutional Source Beutler Lab
Gene Symbol Ptgdr
Ensembl Gene ENSMUSG00000071489
Gene Name prostaglandin D receptor
Synonyms DP
MMRRC Submission 040311-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2312 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 45088692-45096832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45096619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 31 (L31R)
Ref Sequence ENSEMBL: ENSMUSP00000093653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095959]
AlphaFold P70263
Predicted Effect probably damaging
Transcript: ENSMUST00000095959
AA Change: L31R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093653
Gene: ENSMUSG00000071489
AA Change: L31R

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp12 A G 1: 92,934,531 (GRCm39) E136G probably benign Het
Bltp3b A G 10: 89,616,995 (GRCm39) T179A probably damaging Het
Cdhr4 G A 9: 107,872,486 (GRCm39) V244I probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crygf A T 1: 65,965,717 (GRCm39) M1L probably benign Het
Dapk1 G T 13: 60,905,167 (GRCm39) C959F probably damaging Het
Dop1a C G 9: 86,403,495 (GRCm39) S1565* probably null Het
Eya4 A G 10: 22,982,163 (GRCm39) S622P probably damaging Het
Fbln1 T C 15: 85,147,549 (GRCm39) V598A probably benign Het
Gldc A T 19: 30,078,226 (GRCm39) F924I probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Herc1 C A 9: 66,415,563 (GRCm39) S4846* probably null Het
Jmjd1c A T 10: 67,074,629 (GRCm39) K1917N probably damaging Het
Kcnh2 A G 5: 24,529,952 (GRCm39) probably null Het
Lmtk2 T C 5: 144,110,444 (GRCm39) F388S probably damaging Het
Lpar1 A C 4: 58,487,168 (GRCm39) Y34* probably null Het
Lrpprc G A 17: 85,080,686 (GRCm39) P180S probably damaging Het
Mex3a A G 3: 88,443,785 (GRCm39) H287R probably damaging Het
Nid1 A G 13: 13,675,078 (GRCm39) T933A probably benign Het
Or52r1c A G 7: 102,735,633 (GRCm39) T298A probably damaging Het
Pcdhb7 A G 18: 37,475,250 (GRCm39) T129A probably benign Het
Pfkm T A 15: 98,023,456 (GRCm39) Y385N probably damaging Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Prx T C 7: 27,216,051 (GRCm39) V184A possibly damaging Het
Rab3b A G 4: 108,747,691 (GRCm39) T63A probably damaging Het
Rassf1 T C 9: 107,434,749 (GRCm39) M156T probably damaging Het
Rhobtb1 C A 10: 69,106,293 (GRCm39) S286* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rmnd1 A T 10: 4,377,466 (GRCm39) M71K probably benign Het
Rnf130 T A 11: 49,978,290 (GRCm39) probably null Het
Rxrb T A 17: 34,251,103 (GRCm39) probably benign Het
Ryr2 G T 13: 11,753,128 (GRCm39) T1731K probably damaging Het
Serpine2 A T 1: 79,780,570 (GRCm39) L293Q probably damaging Het
Skint6 T C 4: 113,095,339 (GRCm39) T107A probably damaging Het
Slc9a8 T A 2: 167,293,196 (GRCm39) H181Q probably benign Het
Spaca3 A T 11: 80,754,037 (GRCm39) Y58F possibly damaging Het
Sptbn1 T C 11: 30,104,249 (GRCm39) T152A probably damaging Het
Tlr2 A G 3: 83,744,847 (GRCm39) L412P probably damaging Het
Trak2 A G 1: 58,974,941 (GRCm39) S84P probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm2 C A 10: 77,754,798 (GRCm39) E1229D probably benign Het
Ttc14 A G 3: 33,861,984 (GRCm39) probably null Het
Tyrp1 G A 4: 80,755,801 (GRCm39) W190* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vegfb C A 19: 6,962,795 (GRCm39) R160L possibly damaging Het
Vmn1r220 A G 13: 23,368,147 (GRCm39) M183T probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnt10a C A 1: 74,842,589 (GRCm39) A355E possibly damaging Het
Other mutations in Ptgdr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02548:Ptgdr APN 14 45,096,071 (GRCm39) missense probably damaging 1.00
R1036:Ptgdr UTSW 14 45,096,572 (GRCm39) missense probably damaging 0.98
R1368:Ptgdr UTSW 14 45,090,799 (GRCm39) missense probably damaging 1.00
R1649:Ptgdr UTSW 14 45,095,959 (GRCm39) missense probably benign
R1785:Ptgdr UTSW 14 45,096,036 (GRCm39) nonsense probably null
R1786:Ptgdr UTSW 14 45,096,036 (GRCm39) nonsense probably null
R1921:Ptgdr UTSW 14 45,090,738 (GRCm39) missense probably benign 0.00
R4867:Ptgdr UTSW 14 45,096,253 (GRCm39) missense probably damaging 1.00
R5198:Ptgdr UTSW 14 45,096,300 (GRCm39) missense probably damaging 1.00
R6917:Ptgdr UTSW 14 45,096,067 (GRCm39) missense possibly damaging 0.81
R7186:Ptgdr UTSW 14 45,096,401 (GRCm39) missense probably damaging 1.00
R7291:Ptgdr UTSW 14 45,096,649 (GRCm39) missense possibly damaging 0.69
R7399:Ptgdr UTSW 14 45,095,689 (GRCm39) splice site probably null
R7612:Ptgdr UTSW 14 45,096,094 (GRCm39) missense probably damaging 0.98
R7763:Ptgdr UTSW 14 45,096,535 (GRCm39) missense probably damaging 0.99
R7850:Ptgdr UTSW 14 45,090,828 (GRCm39) missense probably benign 0.05
R8139:Ptgdr UTSW 14 45,096,142 (GRCm39) missense probably benign 0.13
R8262:Ptgdr UTSW 14 45,090,858 (GRCm39) missense probably benign 0.01
R8392:Ptgdr UTSW 14 45,096,379 (GRCm39) missense probably damaging 1.00
R8992:Ptgdr UTSW 14 45,096,181 (GRCm39) missense probably damaging 1.00
R9359:Ptgdr UTSW 14 45,090,715 (GRCm39) missense
R9403:Ptgdr UTSW 14 45,090,715 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TCGCATAACTGATTGCCTGAGG -3'
(R):5'- AACCTCTGTGCCTTAGCTGC -3'

Sequencing Primer
(F):5'- AGGCAGCAGTTCCTTTAGGCTC -3'
(R):5'- TTAGCTGCGCCCTGAGC -3'
Posted On 2014-11-11