Incidental Mutation 'R5438:Ptger2'
| ID |
428489 |
| 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 |
043003-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
45225652-45241277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45227101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 227
(H227L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046891]
|
| AlphaFold |
Q62053 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046891
AA Change: H227L
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038483
Gene: ENSMUSG00000037759
AA Change: H227L
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,538,165 (GRCm39) |
Q244K |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,275,995 (GRCm39) |
L4Q |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,504,570 (GRCm39) |
V581I |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,151,288 (GRCm39) |
V3D |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,633,479 (GRCm39) |
F525L |
probably benign |
Het |
| Cimip4 |
T |
C |
15: 78,263,040 (GRCm39) |
T180A |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,231,707 (GRCm39) |
T1127K |
possibly damaging |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,682,792 (GRCm39) |
I1076F |
possibly damaging |
Het |
| Elp4 |
A |
G |
2: 105,734,748 (GRCm39) |
F29S |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,650,799 (GRCm39) |
Y448* |
probably null |
Het |
| Fam219a |
A |
G |
4: 41,520,302 (GRCm39) |
S149P |
probably damaging |
Het |
| Gdap2 |
A |
T |
3: 100,085,629 (GRCm39) |
I184F |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,376,527 (GRCm39) |
K153R |
probably damaging |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,428,605 (GRCm39) |
L277Q |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,107,769 (GRCm39) |
S2128T |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,321 (GRCm39) |
S919T |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,661,455 (GRCm39) |
N1163S |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,618 (GRCm39) |
C807* |
probably null |
Het |
| Or52n5 |
G |
A |
7: 104,588,344 (GRCm39) |
V204I |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,925 (GRCm39) |
F255L |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,207 (GRCm39) |
N62S |
unknown |
Het |
| Pcdh18 |
A |
T |
3: 49,710,465 (GRCm39) |
Y283* |
probably null |
Het |
| Slc24a5 |
A |
G |
2: 124,910,785 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,708,302 (GRCm39) |
D98E |
probably benign |
Het |
| Smad1 |
A |
T |
8: 80,082,949 (GRCm39) |
F184I |
probably benign |
Het |
| Sncg |
C |
T |
14: 34,095,637 (GRCm39) |
V52I |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Zc3h11a |
C |
T |
1: 133,568,385 (GRCm39) |
R88H |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,138,894 (GRCm39) |
V46A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,193 (GRCm39) |
C423S |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,705 (GRCm39) |
H841Q |
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 |
|
|
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 |
|
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 |
|
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'- ACTTCTACAGGCGCCACTTATC -3'
(R):5'- CTTACTGTGAAAGGCAAGGAGC -3'
Sequencing Primer
(F):5'- CTGCCTGTCATCTATGGGGC -3'
(R):5'- CATATGGCGAAGGTGATGGTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation