Incidental Mutation 'R1405:Ptgdr2'
ID500236
Institutional Source Beutler Lab
Gene Symbol Ptgdr2
Ensembl Gene ENSMUSG00000034117
Gene Nameprostaglandin D2 receptor 2
SynonymsGpr44, PGD2 receptor, Crth2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #R1405 (G1)
Quality Score208
Status Not validated
Chromosome19
Chromosomal Location10937160-10942511 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10941031 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 304 (V304A)
Ref Sequence ENSEMBL: ENSMUSP00000036159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025639] [ENSMUST00000037261]
Predicted Effect probably benign
Transcript: ENSMUST00000025639
SMART Domains Protein: ENSMUSP00000025639
Gene: ENSMUSG00000024732

DomainStartEndE-ValueType
low complexity region 53 64 N/A INTRINSIC
low complexity region 67 84 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 107 124 N/A INTRINSIC
low complexity region 127 144 N/A INTRINSIC
low complexity region 187 201 N/A INTRINSIC
coiled coil region 338 389 N/A INTRINSIC
low complexity region 392 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037261
AA Change: V304A

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036159
Gene: ENSMUSG00000034117
AA Change: V304A

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
Pfam:7tm_1 48 303 7.5e-39 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189018
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 96.7%
  • 10x: 83.5%
  • 20x: 53.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show enhanced IL-5 production and eosinophil recruitment into the lung in an allergic airway inflammatory model. In contrast, mice homozygous for a second knock-out allele exhibit lower serum IgE levels and reduced IgE-mediated inflammatory responses in skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 G A 7: 101,398,436 probably null Het
Asb8 G A 15: 98,141,367 H51Y possibly damaging Het
Capn10 T G 1: 92,945,022 V490G probably benign Het
Ccdc146 G A 5: 21,399,732 S36L probably benign Het
Celsr1 C T 15: 85,905,434 probably null Het
Clvs2 C A 10: 33,513,260 *328L probably null Het
Cul9 C G 17: 46,522,175 A1326P probably damaging Het
Dstn A G 2: 143,938,436 K19E probably damaging Het
Ehmt2 T A 17: 34,906,577 H134Q probably benign Het
Faah G A 4: 116,001,148 P411S probably damaging Het
Fn1 A G 1: 71,642,078 F364L probably damaging Het
Gm14124 T A 2: 150,267,700 Y103* probably null Het
Gmnc A T 16: 26,960,446 N270K possibly damaging Het
Grip2 A T 6: 91,788,152 probably null Het
Hmg20a A T 9: 56,477,303 Q119L possibly damaging Het
Ipo7 T C 7: 110,029,841 I106T probably benign Het
Ipo7 C T 7: 110,039,249 P241L probably damaging Het
Katnb1 T C 8: 95,098,173 Y574H probably damaging Het
Larp6 A C 9: 60,737,566 M330L probably benign Het
Lrrc8e T C 8: 4,231,754 Y30H probably damaging Het
Nop56 T C 2: 130,277,948 V420A probably benign Het
Nrg1 T C 8: 31,917,827 D126G probably benign Het
Prdm1 T A 10: 44,439,965 N725I probably damaging Het
Prl3a1 A G 13: 27,275,068 probably null Het
Psmd2 T C 16: 20,652,284 L59P possibly damaging Het
Rasa3 A G 8: 13,588,027 V339A possibly damaging Het
Sec24c G A 14: 20,692,525 probably null Het
Serpinb9e A G 13: 33,260,026 D343G probably benign Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Stab1 A C 14: 31,149,001 V1297G probably benign Het
Stk4 C T 2: 164,100,528 T360M probably benign Het
Tmprss2 G A 16: 97,596,805 T57I probably benign Het
Tnrc6a A G 7: 123,171,078 D697G probably damaging Het
Vwa5b2 T A 16: 20,604,316 D1021E probably benign Het
Wdr46 C A 17: 33,949,083 P543Q probably damaging Het
Zfp287 T A 11: 62,728,311 D119V probably damaging Het
Zxdc A G 6: 90,384,243 S737G possibly damaging Het
Other mutations in Ptgdr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Ptgdr2 APN 19 10940910 missense probably benign 0.39
IGL02301:Ptgdr2 APN 19 10940209 missense possibly damaging 0.89
R0003:Ptgdr2 UTSW 19 10940428 missense probably damaging 1.00
R0003:Ptgdr2 UTSW 19 10940428 missense probably damaging 1.00
R1175:Ptgdr2 UTSW 19 10940928 missense possibly damaging 0.53
R1405:Ptgdr2 UTSW 19 10941031 missense probably benign 0.43
R1448:Ptgdr2 UTSW 19 10940493 missense probably damaging 1.00
R2014:Ptgdr2 UTSW 19 10940425 missense probably damaging 0.98
R5900:Ptgdr2 UTSW 19 10940988 unclassified probably null
R6631:Ptgdr2 UTSW 19 10940869 missense probably benign 0.07
R7350:Ptgdr2 UTSW 19 10940955 missense probably benign 0.00
R8146:Ptgdr2 UTSW 19 10940997 missense probably damaging 1.00
Z1177:Ptgdr2 UTSW 19 10940387 missense probably benign 0.29
Predicted Primers
Posted On2017-12-01