Incidental Mutation 'R0003:Ptgdr2'
ID |
7933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptgdr2
|
Ensembl Gene |
ENSMUSG00000034117 |
Gene Name |
prostaglandin D2 receptor 2 |
Synonyms |
PGD2 receptor, Gpr44, Crth2 |
MMRRC Submission |
038299-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R0003 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
10914524-10919875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 10917792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 103
(C103Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025639]
[ENSMUST00000037261]
|
AlphaFold |
Q9Z2J6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025639
|
SMART Domains |
Protein: ENSMUSP00000025639 Gene: ENSMUSG00000024732
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000037261
AA Change: C103Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036159 Gene: ENSMUSG00000034117 AA Change: C103Y
Domain | Start | End | E-Value | Type |
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
|
Meta Mutation Damage Score |
0.9431 |
Coding Region Coverage |
- 1x: 80.3%
- 3x: 68.0%
- 10x: 36.1%
- 20x: 15.3%
|
Validation Efficiency |
36% (21/58) |
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: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
C |
18: 80,174,205 (GRCm39) |
Y68C |
probably damaging |
Het |
Arsi |
C |
T |
18: 61,050,058 (GRCm39) |
R314C |
probably benign |
Het |
Cnnm3 |
T |
C |
1: 36,563,124 (GRCm39) |
V696A |
probably benign |
Het |
Decr2 |
A |
T |
17: 26,302,027 (GRCm39) |
N234K |
probably benign |
Het |
Eprs1 |
T |
C |
1: 185,146,588 (GRCm39) |
V1206A |
probably damaging |
Het |
Fmnl3 |
T |
C |
15: 99,219,013 (GRCm39) |
T807A |
probably damaging |
Het |
Ints3 |
C |
A |
3: 90,315,818 (GRCm39) |
M315I |
probably benign |
Het |
Lamc1 |
A |
C |
1: 153,138,185 (GRCm39) |
L223R |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,427,196 (GRCm39) |
L398P |
probably damaging |
Het |
Mx1 |
A |
G |
16: 97,252,788 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,443,664 (GRCm39) |
G497S |
probably damaging |
Het |
Or5t17 |
T |
A |
2: 86,832,710 (GRCm39) |
Y132* |
probably null |
Het |
Or9q1 |
T |
C |
19: 13,805,050 (GRCm39) |
T237A |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,032,839 (GRCm39) |
Q965H |
probably damaging |
Het |
Tfg |
T |
C |
16: 56,511,351 (GRCm39) |
Y326C |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,574,027 (GRCm39) |
D25622G |
probably damaging |
Het |
|
Other mutations in Ptgdr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01666:Ptgdr2
|
APN |
19 |
10,918,274 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02301:Ptgdr2
|
APN |
19 |
10,917,573 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0003:Ptgdr2
|
UTSW |
19 |
10,917,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R1175:Ptgdr2
|
UTSW |
19 |
10,918,292 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1405:Ptgdr2
|
UTSW |
19 |
10,918,395 (GRCm39) |
missense |
probably benign |
0.43 |
R1405:Ptgdr2
|
UTSW |
19 |
10,918,395 (GRCm39) |
missense |
probably benign |
0.43 |
R1448:Ptgdr2
|
UTSW |
19 |
10,917,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R2014:Ptgdr2
|
UTSW |
19 |
10,917,789 (GRCm39) |
missense |
probably damaging |
0.98 |
R5900:Ptgdr2
|
UTSW |
19 |
10,918,352 (GRCm39) |
splice site |
probably null |
|
R6631:Ptgdr2
|
UTSW |
19 |
10,918,233 (GRCm39) |
missense |
probably benign |
0.07 |
R7350:Ptgdr2
|
UTSW |
19 |
10,918,319 (GRCm39) |
missense |
probably benign |
0.00 |
R8146:Ptgdr2
|
UTSW |
19 |
10,918,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Ptgdr2
|
UTSW |
19 |
10,917,785 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8683:Ptgdr2
|
UTSW |
19 |
10,917,893 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8818:Ptgdr2
|
UTSW |
19 |
10,918,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R8953:Ptgdr2
|
UTSW |
19 |
10,917,786 (GRCm39) |
missense |
probably benign |
0.16 |
Z1177:Ptgdr2
|
UTSW |
19 |
10,917,751 (GRCm39) |
missense |
probably benign |
0.29 |
|
Posted On |
2012-11-20 |