Incidental Mutation 'IGL01975:Ptger1'
ID |
182651 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptger1
|
Ensembl Gene |
ENSMUSG00000019464 |
Gene Name |
prostaglandin E receptor 1 (subtype EP1) |
Synonyms |
Ptgerep1, 42kDa, EP1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
IGL01975
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
84393307-84399382 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 84396149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005616]
[ENSMUST00000019577]
[ENSMUST00000019608]
[ENSMUST00000132945]
[ENSMUST00000144258]
|
AlphaFold |
P35375 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005616
|
SMART Domains |
Protein: ENSMUSP00000005616 Gene: ENSMUSG00000057672
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
Hr1
|
37 |
101 |
6.74e-20 |
SMART |
Hr1
|
126 |
194 |
1.13e-21 |
SMART |
Hr1
|
216 |
284 |
7.79e-25 |
SMART |
C2
|
328 |
464 |
2.45e-1 |
SMART |
low complexity region
|
569 |
601 |
N/A |
INTRINSIC |
S_TKc
|
619 |
878 |
2.83e-96 |
SMART |
S_TK_X
|
879 |
943 |
5.29e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000019577
|
SMART Domains |
Protein: ENSMUSP00000019577 Gene: ENSMUSG00000019433
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
PDZ
|
141 |
215 |
9.07e-13 |
SMART |
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000019608
AA Change: F402S
|
SMART Domains |
Protein: ENSMUSP00000019608 Gene: ENSMUSG00000019464 AA Change: F402S
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
52 |
354 |
2.3e-17 |
PFAM |
low complexity region
|
356 |
372 |
N/A |
INTRINSIC |
low complexity region
|
392 |
405 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124946
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128523
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132945
|
SMART Domains |
Protein: ENSMUSP00000115054 Gene: ENSMUSG00000057672
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
42 |
N/A |
INTRINSIC |
Hr1
|
49 |
113 |
6.74e-20 |
SMART |
Hr1
|
138 |
206 |
1.13e-21 |
SMART |
Hr1
|
228 |
296 |
7.79e-25 |
SMART |
C2
|
340 |
476 |
2.45e-1 |
SMART |
low complexity region
|
581 |
613 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
631 |
756 |
2.2e-23 |
PFAM |
Pfam:Pkinase_Tyr
|
631 |
757 |
1.5e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159935
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212519
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138898
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146057
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144258
|
SMART Domains |
Protein: ENSMUSP00000116235 Gene: ENSMUSG00000057672
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
Hr1
|
42 |
106 |
6.74e-20 |
SMART |
Hr1
|
131 |
199 |
1.13e-21 |
SMART |
Hr1
|
221 |
289 |
7.79e-25 |
SMART |
C2
|
333 |
469 |
2.45e-1 |
SMART |
low complexity region
|
574 |
606 |
N/A |
INTRINSIC |
S_TKc
|
624 |
883 |
2.83e-96 |
SMART |
S_TK_X
|
884 |
948 |
5.29e-18 |
SMART |
|
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). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice may exhibit partial prenatal lethality, pain threshold abnormalities, behavioral disinhibition in response to stress, low blood pressure, defects in type IV hypersensitivity reactions, resistance to chemically induced tumors and impaired response to water deprivation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
C |
T |
5: 8,217,396 (GRCm39) |
C133Y |
probably damaging |
Het |
Akap3 |
G |
T |
6: 126,850,963 (GRCm39) |
S827I |
probably damaging |
Het |
Arhgap20 |
C |
T |
9: 51,761,097 (GRCm39) |
Q947* |
probably null |
Het |
Csf2rb2 |
A |
G |
15: 78,173,086 (GRCm39) |
I258T |
probably benign |
Het |
Egln2 |
T |
C |
7: 26,859,745 (GRCm39) |
I323V |
possibly damaging |
Het |
Erlin1 |
C |
A |
19: 44,025,370 (GRCm39) |
G348V |
probably damaging |
Het |
Fbxo38 |
C |
T |
18: 62,648,484 (GRCm39) |
A685T |
probably damaging |
Het |
Gm10272 |
G |
A |
10: 77,542,608 (GRCm39) |
C50Y |
probably damaging |
Het |
Gm11559 |
G |
T |
11: 99,755,682 (GRCm39) |
Q110H |
unknown |
Het |
Gpr75 |
T |
C |
11: 30,841,835 (GRCm39) |
S247P |
probably benign |
Het |
Grid1 |
A |
T |
14: 35,045,383 (GRCm39) |
M409L |
probably benign |
Het |
Herc3 |
A |
C |
6: 58,893,561 (GRCm39) |
D941A |
possibly damaging |
Het |
Ilf3 |
T |
A |
9: 21,303,675 (GRCm39) |
S166T |
probably benign |
Het |
Kcnu1 |
A |
C |
8: 26,424,525 (GRCm39) |
E273D |
probably benign |
Het |
Kdm8 |
A |
G |
7: 125,051,529 (GRCm39) |
S41G |
probably benign |
Het |
Ldlr |
G |
A |
9: 21,644,993 (GRCm39) |
V174I |
probably benign |
Het |
Lpar5 |
T |
C |
6: 125,058,750 (GRCm39) |
L157P |
probably damaging |
Het |
Mcrs1 |
A |
G |
15: 99,141,559 (GRCm39) |
|
probably null |
Het |
Ndst3 |
T |
A |
3: 123,395,163 (GRCm39) |
Y489F |
possibly damaging |
Het |
Or6c69c |
A |
G |
10: 129,911,139 (GRCm39) |
I287V |
probably damaging |
Het |
Palmd |
A |
T |
3: 116,717,283 (GRCm39) |
S405T |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,680,602 (GRCm39) |
K1068M |
probably damaging |
Het |
Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
Rnf20 |
T |
A |
4: 49,654,473 (GRCm39) |
D843E |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,567,385 (GRCm39) |
S322P |
possibly damaging |
Het |
Slc22a8 |
T |
A |
19: 8,582,775 (GRCm39) |
I152N |
probably damaging |
Het |
Slc6a21 |
T |
A |
7: 44,937,275 (GRCm39) |
D268E |
probably benign |
Het |
Sstr1 |
A |
G |
12: 58,260,412 (GRCm39) |
N345S |
probably benign |
Het |
Stx17 |
T |
C |
4: 48,180,670 (GRCm39) |
S172P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,018,908 (GRCm39) |
|
probably benign |
Het |
Tpte |
A |
G |
8: 22,839,353 (GRCm39) |
T467A |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
Trav13-2 |
A |
T |
14: 53,872,823 (GRCm39) |
T100S |
possibly damaging |
Het |
Trip12 |
A |
G |
1: 84,792,534 (GRCm39) |
|
probably benign |
Het |
Wdr36 |
A |
G |
18: 32,985,541 (GRCm39) |
H486R |
probably damaging |
Het |
Zswim5 |
T |
C |
4: 116,822,889 (GRCm39) |
I453T |
probably benign |
Het |
|
Other mutations in Ptger1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02069:Ptger1
|
APN |
8 |
84,396,086 (GRCm39) |
missense |
probably benign |
|
G1citation:Ptger1
|
UTSW |
8 |
84,395,279 (GRCm39) |
missense |
probably benign |
|
R0042:Ptger1
|
UTSW |
8 |
84,394,795 (GRCm39) |
missense |
probably benign |
0.31 |
R0069:Ptger1
|
UTSW |
8 |
84,394,948 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1694:Ptger1
|
UTSW |
8 |
84,395,107 (GRCm39) |
missense |
probably benign |
0.01 |
R1754:Ptger1
|
UTSW |
8 |
84,395,926 (GRCm39) |
missense |
probably benign |
0.34 |
R1858:Ptger1
|
UTSW |
8 |
84,395,107 (GRCm39) |
missense |
probably benign |
0.02 |
R1973:Ptger1
|
UTSW |
8 |
84,396,083 (GRCm39) |
missense |
probably benign |
0.13 |
R2217:Ptger1
|
UTSW |
8 |
84,395,357 (GRCm39) |
missense |
probably benign |
0.03 |
R5276:Ptger1
|
UTSW |
8 |
84,395,974 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5569:Ptger1
|
UTSW |
8 |
84,394,961 (GRCm39) |
splice site |
probably null |
|
R6822:Ptger1
|
UTSW |
8 |
84,395,279 (GRCm39) |
missense |
probably benign |
|
R8474:Ptger1
|
UTSW |
8 |
84,395,267 (GRCm39) |
missense |
probably benign |
|
R8680:Ptger1
|
UTSW |
8 |
84,394,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R9526:Ptger1
|
UTSW |
8 |
84,396,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Ptger1
|
UTSW |
8 |
84,395,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |