Incidental Mutation 'R0720:Ptger2'
| ID |
63528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptger2
|
| Ensembl Gene |
ENSMUSG00000037759 |
| Gene Name |
prostaglandin E receptor 2 (subtype EP2) |
| Synonyms |
EP2, EP2 receptor, Ptgerep2 |
| MMRRC Submission |
038902-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0720 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
45225652-45241277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45226590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 57
(C57R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046891]
|
| AlphaFold |
Q62053 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046891
AA Change: C57R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038483
Gene: ENSMUSG00000037759
AA Change: C57R
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228945
|
| Meta Mutation Damage Score |
0.0920 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (44/45) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,024,063 (GRCm39) |
I136T |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,646,572 (GRCm39) |
D416G |
probably damaging |
Het |
| Commd4 |
G |
T |
9: 57,062,718 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,327,213 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,314,007 (GRCm39) |
N1941S |
probably null |
Het |
| Dynap |
T |
C |
18: 70,374,055 (GRCm39) |
D157G |
unknown |
Het |
| Entrep2 |
A |
G |
7: 64,469,658 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,410,242 (GRCm39) |
|
probably null |
Het |
| Fbxo25 |
A |
G |
8: 13,985,222 (GRCm39) |
Y305C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,530,241 (GRCm39) |
D36G |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,249,805 (GRCm39) |
T438A |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,971,923 (GRCm39) |
Y288F |
possibly damaging |
Het |
| Gm3164 |
C |
A |
14: 4,442,719 (GRCm38) |
S218R |
probably benign |
Het |
| Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,811,453 (GRCm39) |
I392M |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,515 (GRCm39) |
M262V |
possibly damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,104,344 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,326,718 (GRCm39) |
N4926K |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,201,406 (GRCm39) |
S631P |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,781,220 (GRCm39) |
H139R |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,688 (GRCm39) |
N170I |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,013 (GRCm39) |
T157S |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,114,769 (GRCm39) |
V59A |
probably damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,975,458 (GRCm39) |
|
probably null |
Het |
| Rxfp2 |
G |
T |
5: 149,967,584 (GRCm39) |
K148N |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,018,057 (GRCm39) |
T623M |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,269 (GRCm39) |
L139P |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,584,960 (GRCm39) |
|
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,971 (GRCm39) |
I223T |
probably damaging |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,156 (GRCm39) |
Y102C |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,964,740 (GRCm39) |
L1297P |
probably benign |
Het |
| Txndc8 |
C |
T |
4: 57,984,245 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,235 (GRCm39) |
N2622S |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,305 (GRCm39) |
F330I |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,925,948 (GRCm39) |
|
probably null |
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 |
|
|
IGL03127:Ptger2
|
APN |
14 |
45,239,462 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0533:Ptger2
|
UTSW |
14 |
45,226,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCTGGTACTTGCCTGGAAGAG -3'
(R):5'- GCCATAGCGAAGAGCATGAGCATC -3'
Sequencing Primer
(F):5'- GGTACTTGCCTGGAAGAGATATCATC -3'
(R):5'- AGCATGAGCATCGTGGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation