Incidental Mutation 'R1405:Ptgdr2'
| ID |
500236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgdr2
|
| Ensembl Gene |
ENSMUSG00000034117 |
| Gene Name |
prostaglandin D2 receptor 2 |
| Synonyms |
PGD2 receptor, Gpr44, Crth2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1405 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10914524-10919875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10918395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| 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 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
| 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
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
G |
A |
7: 101,047,643 (GRCm39) |
|
probably null |
Het |
| Asb8 |
G |
A |
15: 98,039,248 (GRCm39) |
H51Y |
possibly damaging |
Het |
| Capn10 |
T |
G |
1: 92,872,744 (GRCm39) |
V490G |
probably benign |
Het |
| Ccdc146 |
G |
A |
5: 21,604,730 (GRCm39) |
S36L |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,789,635 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
C |
A |
10: 33,389,256 (GRCm39) |
*328L |
probably null |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dstn |
A |
G |
2: 143,780,356 (GRCm39) |
K19E |
probably damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,125,553 (GRCm39) |
H134Q |
probably benign |
Het |
| Faah |
G |
A |
4: 115,858,345 (GRCm39) |
P411S |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,681,237 (GRCm39) |
F364L |
probably damaging |
Het |
| Gmnc |
A |
T |
16: 26,779,196 (GRCm39) |
N270K |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,765,133 (GRCm39) |
|
probably null |
Het |
| Hmg20a |
A |
T |
9: 56,384,587 (GRCm39) |
Q119L |
possibly damaging |
Het |
| Ipo7 |
T |
C |
7: 109,629,048 (GRCm39) |
I106T |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,638,456 (GRCm39) |
P241L |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,824,801 (GRCm39) |
Y574H |
probably damaging |
Het |
| Larp6 |
A |
C |
9: 60,644,849 (GRCm39) |
M330L |
probably benign |
Het |
| Lrrc8e |
T |
C |
8: 4,281,754 (GRCm39) |
Y30H |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,119,868 (GRCm39) |
V420A |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,407,855 (GRCm39) |
D126G |
probably benign |
Het |
| Prdm1 |
T |
A |
10: 44,315,961 (GRCm39) |
N725I |
probably damaging |
Het |
| Prl3a1 |
A |
G |
13: 27,459,051 (GRCm39) |
|
probably null |
Het |
| Psmd2 |
T |
C |
16: 20,471,034 (GRCm39) |
L59P |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,638,027 (GRCm39) |
V339A |
possibly damaging |
Het |
| Sec24c |
G |
A |
14: 20,742,593 (GRCm39) |
|
probably null |
Het |
| Serpinb9e |
A |
G |
13: 33,444,009 (GRCm39) |
D343G |
probably benign |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
C |
14: 30,870,958 (GRCm39) |
V1297G |
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tmprss2 |
G |
A |
16: 97,398,005 (GRCm39) |
T57I |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,423,066 (GRCm39) |
D1021E |
probably benign |
Het |
| Wdr46 |
C |
A |
17: 34,168,057 (GRCm39) |
P543Q |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,109,620 (GRCm39) |
Y103* |
probably null |
Het |
| Zfp287 |
T |
A |
11: 62,619,137 (GRCm39) |
D119V |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,361,225 (GRCm39) |
S737G |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-12-01 |
Incidental Mutation