Incidental Mutation 'R3846:Ptger2'
| ID |
277388 |
| 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 |
040894-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
45225652-45241277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 45226784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 121
(S121R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046891]
|
| AlphaFold |
Q62053 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046891
AA Change: S121R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038483
Gene: ENSMUSG00000037759
AA Change: S121R
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (38/39) |
| 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 |
|---|
| 4930568D16Rik |
A |
G |
2: 35,244,570 (GRCm39) |
Y261H |
probably damaging |
Het |
| Acad10 |
T |
A |
5: 121,772,749 (GRCm39) |
I511F |
probably benign |
Het |
| Adgb |
G |
A |
10: 10,258,465 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
T |
C |
8: 95,767,049 (GRCm39) |
V468A |
probably benign |
Het |
| Ano4 |
A |
T |
10: 88,831,114 (GRCm39) |
I468N |
possibly damaging |
Het |
| Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,101,320 (GRCm39) |
V295A |
probably benign |
Het |
| Ccser2 |
A |
G |
14: 36,662,245 (GRCm39) |
V313A |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,447,271 (GRCm39) |
I325V |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,431,366 (GRCm39) |
T395A |
probably benign |
Het |
| Dock2 |
T |
G |
11: 34,623,198 (GRCm39) |
H65P |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,759 (GRCm39) |
Q4164L |
possibly damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,619,084 (GRCm39) |
Y96* |
probably null |
Het |
| Gja3 |
T |
A |
14: 57,273,161 (GRCm39) |
K404* |
probably null |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,401 (GRCm39) |
K464R |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,320,362 (GRCm39) |
I3948V |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,808,893 (GRCm39) |
R1090W |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,239,464 (GRCm39) |
H3234R |
unknown |
Het |
| Ifi207 |
T |
A |
1: 173,562,869 (GRCm39) |
E92D |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,810,186 (GRCm39) |
|
probably benign |
Het |
| Itgax |
G |
T |
7: 127,732,939 (GRCm39) |
V273F |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,814,604 (GRCm39) |
M1043V |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,370,588 (GRCm39) |
N114S |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
| Notch4 |
A |
G |
17: 34,797,071 (GRCm39) |
T940A |
probably damaging |
Het |
| Nudt15 |
T |
A |
14: 73,760,911 (GRCm39) |
Q60L |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,139,526 (GRCm39) |
V151A |
probably benign |
Het |
| Or52e7 |
T |
C |
7: 104,684,896 (GRCm39) |
C164R |
probably benign |
Het |
| Phip |
G |
A |
9: 82,758,179 (GRCm39) |
R1505* |
probably null |
Het |
| Scyl2 |
A |
T |
10: 89,476,403 (GRCm39) |
F907L |
probably damaging |
Het |
| Silc1 |
T |
A |
12: 27,210,301 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc4 |
C |
A |
3: 54,225,433 (GRCm39) |
F843L |
probably benign |
Het |
| Tysnd1 |
C |
T |
10: 61,531,867 (GRCm39) |
S173L |
possibly damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,953 (GRCm39) |
V680D |
possibly damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
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 |
|
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 |
|
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'- CAGCAGGACCTCTATCTCCTTG -3'
(R):5'- TGAAGGTATGCAGTCCTCCC -3'
Sequencing Primer
(F):5'- CCTTGTTTCACGTGCTGGTAACG -3'
(R):5'- TACTGGACGTACTCCCCGTAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation