Incidental Mutation 'R1036:Ptgdr'
| ID |
93819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgdr
|
| Ensembl Gene |
ENSMUSG00000071489 |
| Gene Name |
prostaglandin D receptor |
| Synonyms |
DP |
| MMRRC Submission |
039135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1036 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
45088692-45096832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45096572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 47
(S47P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095959]
|
| AlphaFold |
P70263 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095959
AA Change: S47P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093653
Gene: ENSMUSG00000071489
AA Change: S47P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
46 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
54 |
319 |
1.1e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000099718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227507
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display a reduced inflammatory response to airborn allergens and reduced susceptibility to passive cutaneous anaphylaxis induced by IgE antigen challenge due to impaired mast cell degranulation. [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 |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
| Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
| Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
| Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
| Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
| Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
| Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
| Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
| Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
| Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
| Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ptgdr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02548:Ptgdr
|
APN |
14 |
45,096,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1368:Ptgdr
|
UTSW |
14 |
45,090,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Ptgdr
|
UTSW |
14 |
45,095,959 (GRCm39) |
missense |
probably benign |
|
|
R1785:Ptgdr
|
UTSW |
14 |
45,096,036 (GRCm39) |
nonsense |
probably null |
|
|
R1786:Ptgdr
|
UTSW |
14 |
45,096,036 (GRCm39) |
nonsense |
probably null |
|
|
R1921:Ptgdr
|
UTSW |
14 |
45,090,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2312:Ptgdr
|
UTSW |
14 |
45,096,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Ptgdr
|
UTSW |
14 |
45,096,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5198:Ptgdr
|
UTSW |
14 |
45,096,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Ptgdr
|
UTSW |
14 |
45,096,067 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7186:Ptgdr
|
UTSW |
14 |
45,096,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Ptgdr
|
UTSW |
14 |
45,096,649 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7399:Ptgdr
|
UTSW |
14 |
45,095,689 (GRCm39) |
splice site |
probably null |
|
|
R7612:Ptgdr
|
UTSW |
14 |
45,096,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7763:Ptgdr
|
UTSW |
14 |
45,096,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7850:Ptgdr
|
UTSW |
14 |
45,090,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8139:Ptgdr
|
UTSW |
14 |
45,096,142 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8262:Ptgdr
|
UTSW |
14 |
45,090,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8392:Ptgdr
|
UTSW |
14 |
45,096,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Ptgdr
|
UTSW |
14 |
45,096,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9359:Ptgdr
|
UTSW |
14 |
45,090,715 (GRCm39) |
missense |
|
|
|
R9403:Ptgdr
|
UTSW |
14 |
45,090,715 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTTCGCATAACTGATTGCCTGAG -3'
(R):5'- GCTGACTGTGAATAACACCCAGCC -3'
Sequencing Primer
(F):5'- TGAGGCAGGCAGCAGTTC -3'
(R):5'- GCACAACCTCTGTGCCTTAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation