Incidental Mutation 'R5428:Ptgs1'
| ID |
426990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgs1
|
| Ensembl Gene |
ENSMUSG00000047250 |
| Gene Name |
prostaglandin-endoperoxide synthase 1 |
| Synonyms |
Pghs1, Cox-1, COX1, cyclooxygenase 1, Cox-3 |
| MMRRC Submission |
042994-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R5428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
36120438-36142284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36135280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 415
(M415V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062069]
|
| AlphaFold |
P22437 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062069
AA Change: M415V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: M415V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
EGF
|
37 |
72 |
2.48e1 |
SMART |
|
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
Pfam:An_peroxidase
|
221 |
528 |
1.5e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202733
|
| Meta Mutation Damage Score |
0.0890 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. [provided by RefSeq, Jan 2014]
PHENOTYPE: Null mutants show impaired platelet aggregation, reduced inflammatory responses, and diminished susceptibility to induced papillomas. Female mutants exhibit delayed parturition and their offspring die neonatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
C |
18: 6,635,918 (GRCm39) |
V324L |
probably benign |
Het |
| Abl2 |
T |
C |
1: 156,469,681 (GRCm39) |
C982R |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,248,323 (GRCm39) |
C665Y |
probably damaging |
Het |
| Adra1d |
A |
G |
2: 131,403,323 (GRCm39) |
S256P |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,921,313 (GRCm39) |
Y194F |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,231,060 (GRCm39) |
D1150Y |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,387 (GRCm39) |
M1L |
possibly damaging |
Het |
| Colgalt1 |
G |
T |
8: 72,075,420 (GRCm39) |
R442L |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,406,705 (GRCm39) |
V14A |
unknown |
Het |
| Defa30 |
A |
G |
8: 21,625,419 (GRCm39) |
D61G |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,266,804 (GRCm39) |
C308S |
probably benign |
Het |
| Emc4 |
A |
G |
2: 112,197,700 (GRCm39) |
|
probably benign |
Het |
| Foxp1 |
A |
G |
6: 98,993,592 (GRCm39) |
V104A |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,328,824 (GRCm39) |
L1319R |
possibly damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gja10 |
T |
A |
4: 32,601,169 (GRCm39) |
H405L |
probably benign |
Het |
| Gm27047 |
A |
G |
6: 130,607,527 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
T |
A |
10: 10,595,307 (GRCm39) |
T774S |
probably damaging |
Het |
| Gtse1 |
A |
C |
15: 85,746,340 (GRCm39) |
D52A |
probably benign |
Het |
| Kctd17 |
T |
A |
15: 78,312,982 (GRCm39) |
F42Y |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,488,878 (GRCm39) |
K178E |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,376,125 (GRCm39) |
E175G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,278,661 (GRCm39) |
I5927T |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,191 (GRCm39) |
N935S |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,019,295 (GRCm39) |
I720V |
probably benign |
Het |
| Map3k5 |
C |
T |
10: 19,899,399 (GRCm39) |
H219Y |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,884,787 (GRCm39) |
T314A |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,237,377 (GRCm39) |
V615A |
possibly damaging |
Het |
| Mcmbp |
C |
T |
7: 128,306,248 (GRCm39) |
V457I |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nacc1 |
T |
C |
8: 85,402,783 (GRCm39) |
I337V |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,359,780 (GRCm39) |
D1475G |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,457,137 (GRCm39) |
D392E |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,642,355 (GRCm39) |
T1297A |
possibly damaging |
Het |
| Plag1 |
C |
T |
4: 3,905,538 (GRCm39) |
V51I |
possibly damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,089,208 (GRCm39) |
E616K |
possibly damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,176,414 (GRCm39) |
E1683K |
probably damaging |
Het |
| Rap2a |
T |
A |
14: 120,716,406 (GRCm39) |
F90I |
probably benign |
Het |
| Rcvrn |
A |
G |
11: 67,590,875 (GRCm39) |
E153G |
possibly damaging |
Het |
| Sharpin |
C |
A |
15: 76,234,866 (GRCm39) |
|
probably benign |
Het |
| Skil |
T |
A |
3: 31,151,647 (GRCm39) |
D56E |
probably benign |
Het |
| Slc22a18 |
G |
T |
7: 143,033,082 (GRCm39) |
G57W |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,788,406 (GRCm39) |
D154G |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,400,746 (GRCm39) |
N156K |
probably benign |
Het |
| Tcea1 |
A |
T |
1: 4,950,568 (GRCm39) |
|
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,261,755 (GRCm39) |
V611A |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,591,588 (GRCm39) |
M1V |
probably null |
Het |
| Tomm5 |
A |
T |
4: 45,106,689 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,736,620 (GRCm39) |
K1207R |
probably null |
Het |
| Ttn |
T |
C |
2: 76,591,448 (GRCm39) |
T12747A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,715,480 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
C |
10: 12,569,175 (GRCm39) |
D1147G |
probably benign |
Het |
| Vmn1r53 |
T |
C |
6: 90,200,395 (GRCm39) |
I310V |
probably benign |
Het |
| Washc4 |
A |
C |
10: 83,410,386 (GRCm39) |
D658A |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,077,003 (GRCm39) |
F1243L |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,784 (GRCm39) |
S605P |
probably benign |
Het |
| Zfy1 |
T |
G |
Y: 726,205 (GRCm39) |
H520P |
possibly damaging |
Het |
|
| Other mutations in Ptgs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Ptgs1
|
APN |
2 |
36,127,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02345:Ptgs1
|
APN |
2 |
36,132,983 (GRCm39) |
missense |
probably null |
0.93 |
|
IGL02952:Ptgs1
|
APN |
2 |
36,141,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03306:Ptgs1
|
APN |
2 |
36,127,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Ptgs1
|
UTSW |
2 |
36,130,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0468:Ptgs1
|
UTSW |
2 |
36,139,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Ptgs1
|
UTSW |
2 |
36,130,868 (GRCm39) |
splice site |
probably benign |
|
|
R1563:Ptgs1
|
UTSW |
2 |
36,135,214 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1858:Ptgs1
|
UTSW |
2 |
36,132,782 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2012:Ptgs1
|
UTSW |
2 |
36,127,668 (GRCm39) |
missense |
probably benign |
|
|
R2080:Ptgs1
|
UTSW |
2 |
36,132,859 (GRCm39) |
nonsense |
probably null |
|
|
R2116:Ptgs1
|
UTSW |
2 |
36,127,708 (GRCm39) |
nonsense |
probably null |
|
|
R4073:Ptgs1
|
UTSW |
2 |
36,127,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4163:Ptgs1
|
UTSW |
2 |
36,141,346 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4862:Ptgs1
|
UTSW |
2 |
36,127,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Ptgs1
|
UTSW |
2 |
36,127,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Ptgs1
|
UTSW |
2 |
36,141,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Ptgs1
|
UTSW |
2 |
36,141,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Ptgs1
|
UTSW |
2 |
36,141,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Ptgs1
|
UTSW |
2 |
36,141,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Ptgs1
|
UTSW |
2 |
36,141,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Ptgs1
|
UTSW |
2 |
36,141,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Ptgs1
|
UTSW |
2 |
36,127,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:Ptgs1
|
UTSW |
2 |
36,141,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:Ptgs1
|
UTSW |
2 |
36,141,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Ptgs1
|
UTSW |
2 |
36,141,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Ptgs1
|
UTSW |
2 |
36,127,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Ptgs1
|
UTSW |
2 |
36,141,311 (GRCm39) |
missense |
probably benign |
|
|
R7020:Ptgs1
|
UTSW |
2 |
36,141,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Ptgs1
|
UTSW |
2 |
36,135,222 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7557:Ptgs1
|
UTSW |
2 |
36,135,223 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7873:Ptgs1
|
UTSW |
2 |
36,141,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8215:Ptgs1
|
UTSW |
2 |
36,141,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9244:Ptgs1
|
UTSW |
2 |
36,130,724 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9537:Ptgs1
|
UTSW |
2 |
36,120,739 (GRCm39) |
missense |
unknown |
|
|
R9709:Ptgs1
|
UTSW |
2 |
36,141,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ptgs1
|
UTSW |
2 |
36,130,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGAGGAGTATGTGCAGCAC -3'
(R):5'- ACACAGGGATGTTTACAACCAC -3'
Sequencing Primer
(F):5'- GCAGCACTTGAGTGGCTATTTCC -3'
(R):5'- CAGGGATGTTTACAACCACCTGTAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation