Incidental Mutation 'IGL00562:Ptger4'
ID |
13209 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptger4
|
Ensembl Gene |
ENSMUSG00000039942 |
Gene Name |
prostaglandin E receptor 4 (subtype EP4) |
Synonyms |
Ptgerep4, EP4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
IGL00562
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
5262880-5273668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5272614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 2
(S2T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047379]
[ENSMUST00000120563]
|
AlphaFold |
P32240 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047379
AA Change: S27T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048736 Gene: ENSMUSG00000039942 AA Change: S27T
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
50 |
258 |
1.3e-7 |
PFAM |
Pfam:7tm_1
|
59 |
357 |
1.3e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120563
AA Change: S2T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112858 Gene: ENSMUSG00000039942 AA Change: S2T
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
25 |
233 |
1.9e-7 |
PFAM |
Pfam:7tm_1
|
34 |
332 |
8.5e-45 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133966
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008] PHENOTYPE: Most homozygous targeted null mutants die shortly after birth due to failed closure of the ductus arteriosis. Survivors show decreased migration of Langerhans cells to lymph nodes, contact hypersensitivity and decreased incidence of induced arthritis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500035N22Rik |
T |
C |
5: 25,202,619 (GRCm39) |
|
probably benign |
Het |
AU016765 |
C |
A |
17: 64,826,877 (GRCm39) |
|
noncoding transcript |
Het |
Chaf1b |
T |
C |
16: 93,697,079 (GRCm39) |
|
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,464,505 (GRCm39) |
|
probably benign |
Het |
Crip1 |
T |
A |
12: 113,117,232 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,299,041 (GRCm39) |
S3211P |
probably benign |
Het |
Dlx6 |
C |
T |
6: 6,865,143 (GRCm39) |
R172W |
probably damaging |
Het |
Fktn |
A |
T |
4: 53,747,007 (GRCm39) |
|
probably null |
Het |
Focad |
T |
A |
4: 88,267,046 (GRCm39) |
M1019K |
unknown |
Het |
Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
Kcna3 |
A |
G |
3: 106,944,046 (GRCm39) |
D103G |
probably damaging |
Het |
Mrpl19 |
A |
G |
6: 81,942,853 (GRCm39) |
V19A |
probably benign |
Het |
Ndufb3 |
T |
A |
1: 58,634,958 (GRCm39) |
H103Q |
possibly damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,382,779 (GRCm39) |
V1675A |
possibly damaging |
Het |
Saxo1 |
C |
T |
4: 86,363,809 (GRCm39) |
E225K |
probably damaging |
Het |
Sftpb |
G |
T |
6: 72,286,845 (GRCm39) |
A228S |
probably benign |
Het |
Slc22a29 |
T |
A |
19: 8,138,993 (GRCm39) |
T490S |
probably benign |
Het |
Slc29a1 |
T |
C |
17: 45,900,918 (GRCm39) |
N50S |
probably damaging |
Het |
Smc6 |
T |
A |
12: 11,351,532 (GRCm39) |
S854T |
probably benign |
Het |
Smim23 |
T |
C |
11: 32,771,893 (GRCm39) |
T58A |
probably benign |
Het |
Tas2r134 |
T |
C |
2: 51,518,100 (GRCm39) |
I193T |
possibly damaging |
Het |
Thsd7a |
G |
T |
6: 12,379,658 (GRCm39) |
|
probably null |
Het |
Trav13n-4 |
T |
G |
14: 53,601,423 (GRCm39) |
V64G |
possibly damaging |
Het |
Trmt10a |
G |
A |
3: 137,853,177 (GRCm39) |
E13K |
probably damaging |
Het |
Txndc11 |
T |
C |
16: 10,922,496 (GRCm39) |
S239G |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,804,077 (GRCm39) |
N442K |
probably benign |
Het |
Vps13a |
C |
T |
19: 16,712,078 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ptger4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00848:Ptger4
|
APN |
15 |
5,264,589 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01309:Ptger4
|
APN |
15 |
5,272,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02083:Ptger4
|
APN |
15 |
5,272,655 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03245:Ptger4
|
APN |
15 |
5,264,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R0369:Ptger4
|
UTSW |
15 |
5,272,491 (GRCm39) |
missense |
probably benign |
0.06 |
R0427:Ptger4
|
UTSW |
15 |
5,272,382 (GRCm39) |
missense |
probably benign |
0.25 |
R1399:Ptger4
|
UTSW |
15 |
5,264,412 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1778:Ptger4
|
UTSW |
15 |
5,264,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R1801:Ptger4
|
UTSW |
15 |
5,272,281 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2089:Ptger4
|
UTSW |
15 |
5,272,326 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2091:Ptger4
|
UTSW |
15 |
5,272,326 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2091:Ptger4
|
UTSW |
15 |
5,272,326 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2484:Ptger4
|
UTSW |
15 |
5,264,654 (GRCm39) |
missense |
probably benign |
0.06 |
R2873:Ptger4
|
UTSW |
15 |
5,264,286 (GRCm39) |
missense |
probably benign |
0.02 |
R4515:Ptger4
|
UTSW |
15 |
5,271,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Ptger4
|
UTSW |
15 |
5,272,614 (GRCm39) |
missense |
probably benign |
0.00 |
R4655:Ptger4
|
UTSW |
15 |
5,272,545 (GRCm39) |
missense |
probably benign |
0.06 |
R4860:Ptger4
|
UTSW |
15 |
5,272,087 (GRCm39) |
missense |
probably benign |
0.02 |
R4860:Ptger4
|
UTSW |
15 |
5,272,087 (GRCm39) |
missense |
probably benign |
0.02 |
R6429:Ptger4
|
UTSW |
15 |
5,272,478 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6960:Ptger4
|
UTSW |
15 |
5,264,196 (GRCm39) |
missense |
probably benign |
|
R7992:Ptger4
|
UTSW |
15 |
5,264,381 (GRCm39) |
missense |
probably damaging |
0.99 |
R8471:Ptger4
|
UTSW |
15 |
5,271,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R8768:Ptger4
|
UTSW |
15 |
5,272,138 (GRCm39) |
missense |
probably benign |
0.00 |
R9245:Ptger4
|
UTSW |
15 |
5,273,193 (GRCm39) |
start gained |
probably benign |
|
R9638:Ptger4
|
UTSW |
15 |
5,264,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R9790:Ptger4
|
UTSW |
15 |
5,273,178 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
R9791:Ptger4
|
UTSW |
15 |
5,273,178 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
Posted On |
2012-12-06 |