Incidental Mutation 'IGL02301:Ptgdr2'
ID290291
Institutional Source Australian Phenomics Network (link to record)
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: 0.107) question?
Stock #IGL02301
Quality Score
Status
Chromosome19
Chromosomal Location10937160-10942511 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 10940209 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 30 (I30N)
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 possibly damaging
Transcript: ENSMUST00000037261
AA Change: I30N

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036159
Gene: ENSMUSG00000034117
AA Change: I30N

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
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,332,926 probably benign Het
Alk T C 17: 71,874,176 Q1373R probably damaging Het
Atf7ip2 T G 16: 10,211,047 S148A probably benign Het
Bpi C T 2: 158,274,814 S377F probably damaging Het
Ccni A T 5: 93,188,175 C122S possibly damaging Het
Cd5l A G 3: 87,365,993 R90G probably benign Het
Ceacam3 C T 7: 17,163,101 S664F probably damaging Het
Clca3a2 A T 3: 144,806,372 D534E probably damaging Het
Ep400 A T 5: 110,674,960 S2524R probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gart A G 16: 91,621,837 probably benign Het
Gm9513 T C 9: 36,477,187 probably benign Het
Gsdmc4 A G 15: 63,895,264 V219A probably benign Het
Hus1 T C 11: 8,996,915 T261A probably benign Het
Lman2l A G 1: 36,443,543 I84T probably damaging Het
Megf8 G A 7: 25,337,900 V742M probably damaging Het
Myo1d A G 11: 80,676,853 V267A probably benign Het
Notch2 A G 3: 98,141,554 T1803A probably benign Het
Olfr1278 T A 2: 111,292,697 M143K probably benign Het
Olfr23 T A 11: 73,941,068 M274K possibly damaging Het
Olfr814 A G 10: 129,874,079 F226S probably damaging Het
Pde5a G A 3: 122,760,885 R208Q probably damaging Het
Pla2r1 T C 2: 60,452,436 N745S probably benign Het
Rap1gap2 G A 11: 74,407,369 T415I probably damaging Het
Slc6a6 T C 6: 91,726,056 Y137H probably benign Het
Sptbn1 A T 11: 30,142,129 D532E probably damaging Het
Stk39 T C 2: 68,211,962 D543G probably damaging Het
Trpc4 G A 3: 54,291,232 V526M probably damaging Het
Trrap A G 5: 144,777,917 I100V probably benign Het
Vmn1r-ps123 A C 13: 22,996,357 noncoding transcript Het
Vwa5b2 G A 16: 20,604,790 G1151D probably damaging Het
Zfp358 T A 8: 3,496,858 I480N probably benign Het
Zfp423 T C 8: 87,781,574 D714G probably damaging Het
Other mutations in Ptgdr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Ptgdr2 APN 19 10940910 missense probably benign 0.39
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
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
Posted On2015-04-16