Incidental Mutation 'IGL01522:Plg'
| ID |
89440 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plg
|
| Ensembl Gene |
ENSMUSG00000059481 |
| Gene Name |
plasminogen |
| Synonyms |
Pg |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
IGL01522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
12597496-12638271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12622956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 499
(G499S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014578]
|
| AlphaFold |
P20918 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014578
AA Change: G499S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: G499S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PAN_AP
|
20 |
97 |
8.67e-14 |
SMART |
|
KR
|
101 |
183 |
1.31e-41 |
SMART |
|
KR
|
184 |
264 |
5.4e-43 |
SMART |
|
KR
|
273 |
354 |
3.45e-50 |
SMART |
|
KR
|
375 |
456 |
3.9e-49 |
SMART |
|
KR
|
479 |
562 |
5.53e-40 |
SMART |
|
Tryp_SPc
|
581 |
805 |
4.11e-94 |
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 secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous null mutants exhibit retarded growth, variable rectal prolapse, impaired fertility and lactation in females, early mortality, and widespread fibrin deposition and thrombotic lesions in liver, lung, stomach and other tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
C |
15: 11,065,245 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,850,802 (GRCm39) |
N579S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,289,098 (GRCm39) |
|
probably benign |
Het |
| Ankrd39 |
T |
A |
1: 36,581,142 (GRCm39) |
H69L |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,186 (GRCm39) |
M461K |
possibly damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,979,502 (GRCm39) |
C209Y |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,957,989 (GRCm39) |
E779G |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,879,566 (GRCm39) |
Q394R |
probably damaging |
Het |
| Cep85 |
G |
T |
4: 133,879,567 (GRCm39) |
Q394K |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,101,992 (GRCm39) |
Y364C |
probably benign |
Het |
| Fetub |
G |
A |
16: 22,748,391 (GRCm39) |
M1I |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,751,202 (GRCm39) |
I1003V |
probably damaging |
Het |
| Hsf3 |
A |
G |
X: 95,364,200 (GRCm39) |
|
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,312 (GRCm39) |
N358S |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,493,888 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,059,769 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,258,603 (GRCm39) |
V50A |
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,692,229 (GRCm39) |
W35R |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,806,320 (GRCm39) |
V578A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,638,721 (GRCm39) |
E42G |
probably damaging |
Het |
| Or1j15 |
A |
G |
2: 36,459,233 (GRCm39) |
T208A |
probably benign |
Het |
| Or52b4 |
A |
T |
7: 102,184,391 (GRCm39) |
I146F |
probably damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,360 (GRCm39) |
K307E |
possibly damaging |
Het |
| Or8g21 |
A |
T |
9: 38,906,396 (GRCm39) |
C112S |
probably benign |
Het |
| Or9i16 |
A |
T |
19: 13,864,722 (GRCm39) |
L284* |
probably null |
Het |
| Pcdha11 |
T |
C |
18: 37,318,061 (GRCm39) |
F925L |
probably damaging |
Het |
| Pdcd1 |
T |
G |
1: 93,968,571 (GRCm39) |
R154S |
probably benign |
Het |
| Pepd |
T |
A |
7: 34,623,865 (GRCm39) |
D87E |
probably benign |
Het |
| Pfn4 |
A |
G |
12: 4,820,240 (GRCm39) |
T30A |
probably benign |
Het |
| Pgpep1l |
A |
G |
7: 67,887,456 (GRCm39) |
M48T |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,889,748 (GRCm39) |
N340S |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,844,547 (GRCm39) |
D155G |
probably damaging |
Het |
| Plin3 |
C |
T |
17: 56,587,799 (GRCm39) |
W305* |
probably null |
Het |
| Polq |
C |
A |
16: 36,848,265 (GRCm39) |
L291I |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,532,865 (GRCm39) |
|
probably null |
Het |
| Sdf2l1 |
T |
A |
16: 16,950,014 (GRCm39) |
H54L |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,590,936 (GRCm39) |
D276N |
possibly damaging |
Het |
| Syk |
A |
G |
13: 52,797,097 (GRCm39) |
T576A |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,339 (GRCm39) |
V302I |
probably benign |
Het |
| Uso1 |
T |
C |
5: 92,329,278 (GRCm39) |
F389L |
probably damaging |
Het |
| Wwc2 |
T |
A |
8: 48,321,668 (GRCm39) |
Y482F |
unknown |
Het |
|
| Other mutations in Plg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Plg
|
APN |
17 |
12,630,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01128:Plg
|
APN |
17 |
12,615,586 (GRCm39) |
splice site |
probably benign |
|
|
IGL01981:Plg
|
APN |
17 |
12,621,934 (GRCm39) |
splice site |
probably benign |
|
|
IGL03338:Plg
|
APN |
17 |
12,637,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
elder
|
UTSW |
17 |
12,609,107 (GRCm39) |
nonsense |
probably null |
|
|
oldster
|
UTSW |
17 |
12,614,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Plg
|
UTSW |
17 |
12,637,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Plg
|
UTSW |
17 |
12,630,334 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Plg
|
UTSW |
17 |
12,637,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0759:Plg
|
UTSW |
17 |
12,629,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1013:Plg
|
UTSW |
17 |
12,597,608 (GRCm39) |
splice site |
probably benign |
|
|
R2116:Plg
|
UTSW |
17 |
12,603,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2442:Plg
|
UTSW |
17 |
12,629,847 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2512:Plg
|
UTSW |
17 |
12,622,116 (GRCm39) |
missense |
probably benign |
|
|
R2879:Plg
|
UTSW |
17 |
12,622,987 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3107:Plg
|
UTSW |
17 |
12,603,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3405:Plg
|
UTSW |
17 |
12,622,096 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4409:Plg
|
UTSW |
17 |
12,609,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Plg
|
UTSW |
17 |
12,614,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4861:Plg
|
UTSW |
17 |
12,614,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4977:Plg
|
UTSW |
17 |
12,621,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Plg
|
UTSW |
17 |
12,630,397 (GRCm39) |
missense |
probably benign |
|
|
R5319:Plg
|
UTSW |
17 |
12,622,114 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5443:Plg
|
UTSW |
17 |
12,601,070 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5635:Plg
|
UTSW |
17 |
12,614,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5981:Plg
|
UTSW |
17 |
12,597,605 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6166:Plg
|
UTSW |
17 |
12,617,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6688:Plg
|
UTSW |
17 |
12,610,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Plg
|
UTSW |
17 |
12,597,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Plg
|
UTSW |
17 |
12,637,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7028:Plg
|
UTSW |
17 |
12,610,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Plg
|
UTSW |
17 |
12,607,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7356:Plg
|
UTSW |
17 |
12,629,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Plg
|
UTSW |
17 |
12,629,790 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9035:Plg
|
UTSW |
17 |
12,609,107 (GRCm39) |
nonsense |
probably null |
|
|
R9474:Plg
|
UTSW |
17 |
12,622,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Plg
|
UTSW |
17 |
12,609,213 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9611:Plg
|
UTSW |
17 |
12,609,213 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Plg
|
UTSW |
17 |
12,633,072 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Plg
|
UTSW |
17 |
12,622,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation