Incidental Mutation 'IGL01666:Ptgdr2'
ID103303
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: 0.124) question?
Stock #IGL01666
Quality Score
Status
Chromosome19
Chromosomal Location10937160-10942511 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10940910 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 264 (F264L)
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: F264L

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036159
Gene: ENSMUSG00000034117
AA Change: F264L

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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,153,292 V1335M probably damaging Het
9530077C05Rik A G 9: 22,431,698 D163G probably benign Het
Adgrb3 C A 1: 25,460,751 A664S probably damaging Het
Ankrd61 T A 5: 143,891,136 L297F probably damaging Het
Chrnd A T 1: 87,198,736 S513C possibly damaging Het
Col24a1 G A 3: 145,344,686 V645M possibly damaging Het
Csn3 T C 5: 87,930,157 V174A unknown Het
D630039A03Rik C T 4: 57,910,570 V81I possibly damaging Het
Deptor G A 15: 55,149,379 R54Q probably damaging Het
Ell A G 8: 70,585,813 H400R probably benign Het
Itga2 A G 13: 114,837,091 probably null Het
Itpr3 A G 17: 27,117,178 I2293V probably benign Het
Mrps27 A G 13: 99,409,816 E241G probably damaging Het
Mut T C 17: 40,958,811 L687P probably damaging Het
Myh9 C T 15: 77,761,931 A1951T probably benign Het
Oca2 G A 7: 56,314,811 probably null Het
Olfr135 C T 17: 38,208,889 L215F probably benign Het
Olfr215 T A 6: 116,582,335 I204F possibly damaging Het
Ptpn23 T C 9: 110,386,545 T1384A possibly damaging Het
Rasgrf2 A T 13: 92,038,210 D170E probably damaging Het
Rnf20 C T 4: 49,654,486 Q848* probably null Het
Other mutations in Ptgdr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2014-01-21