Incidental Mutation 'IGL03127:Ptger2'
| ID |
410201 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptger2
|
| Ensembl Gene |
ENSMUSG00000037759 |
| Gene Name |
prostaglandin E receptor 2 (subtype EP2) |
| Synonyms |
EP2, EP2 receptor, Ptgerep2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
45225652-45241277 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 45239462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046891]
|
| AlphaFold |
Q62053 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046891
|
| SMART Domains |
Protein: ENSMUSP00000038483
Gene: ENSMUSG00000037759
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
57 |
315 |
5e-26 |
PFAM |
|
Pfam:7TM_GPCR_Srx
|
65 |
243 |
7.4e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
66 |
319 |
1.2e-7 |
PFAM |
|
low complexity region
|
338 |
356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168000
|
| 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 receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for one targeted null mutation exhibit increased blood pressure when fed a high-salt diet. Female mutants for 2 null alleles have small litters due to impaired ovulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,376,712 (GRCm39) |
|
probably null |
Het |
| Apol7c |
A |
G |
15: 77,410,106 (GRCm39) |
M280T |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,160,283 (GRCm39) |
M264V |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
T |
C |
19: 12,463,864 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
G |
A |
6: 126,874,134 (GRCm39) |
T152I |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,021,107 (GRCm39) |
I1194N |
probably benign |
Het |
| Gadl1 |
C |
T |
9: 115,777,732 (GRCm39) |
T126M |
probably damaging |
Het |
| Gcnt7 |
A |
T |
2: 172,296,331 (GRCm39) |
C110* |
probably null |
Het |
| H2-M9 |
C |
T |
17: 36,951,714 (GRCm39) |
V254M |
possibly damaging |
Het |
| Hadha |
A |
T |
5: 30,339,184 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,848 (GRCm39) |
M621T |
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,704,275 (GRCm39) |
M422V |
probably benign |
Het |
| Neil2 |
T |
C |
14: 63,429,257 (GRCm39) |
H12R |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,700 (GRCm39) |
L76P |
probably damaging |
Het |
| Or2y1g |
T |
G |
11: 49,171,599 (GRCm39) |
V208G |
possibly damaging |
Het |
| Or8b1 |
C |
A |
9: 38,399,882 (GRCm39) |
Q186K |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,505 (GRCm39) |
Y32N |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,794,615 (GRCm39) |
A23V |
probably benign |
Het |
| Ppp1r14d |
A |
G |
2: 119,048,841 (GRCm39) |
*147Q |
probably null |
Het |
| Syne3 |
A |
T |
12: 104,909,687 (GRCm39) |
D716E |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,976,102 (GRCm39) |
N554D |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,847,020 (GRCm39) |
Q204L |
possibly damaging |
Het |
|
| Other mutations in Ptger2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Ptger2
|
APN |
14 |
45,239,198 (GRCm39) |
splice site |
probably benign |
|
|
R0533:Ptger2
|
UTSW |
14 |
45,226,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0720:Ptger2
|
UTSW |
14 |
45,226,590 (GRCm39) |
missense |
probably benign |
|
|
R0973:Ptger2
|
UTSW |
14 |
45,226,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Ptger2
|
UTSW |
14 |
45,226,423 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R1737:Ptger2
|
UTSW |
14 |
45,239,228 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2281:Ptger2
|
UTSW |
14 |
45,227,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3846:Ptger2
|
UTSW |
14 |
45,226,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Ptger2
|
UTSW |
14 |
45,226,471 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4735:Ptger2
|
UTSW |
14 |
45,239,295 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5001:Ptger2
|
UTSW |
14 |
45,226,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5438:Ptger2
|
UTSW |
14 |
45,227,101 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5613:Ptger2
|
UTSW |
14 |
45,226,960 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5767:Ptger2
|
UTSW |
14 |
45,226,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7405:Ptger2
|
UTSW |
14 |
45,226,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Ptger2
|
UTSW |
14 |
45,227,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Ptger2
|
UTSW |
14 |
45,226,476 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Ptger2
|
UTSW |
14 |
45,226,478 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation