Incidental Mutation 'IGL00766:Plau'
| ID |
13032 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plau
|
| Ensembl Gene |
ENSMUSG00000021822 |
| Gene Name |
plasminogen activator, urokinase |
| Synonyms |
u-PA, uPA, urokinase-type plasminogen activator |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20886728-20893453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20888635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 84
(N84S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022368]
[ENSMUST00000224141]
|
| AlphaFold |
P06869 |
| PDB Structure |
Structure-based engineering of species selectivity in the uPA-uPAR interaction [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022368
AA Change: N84S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000022368
Gene: ENSMUSG00000021822
AA Change: N84S
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
10 |
64 |
3.23e0 |
SMART |
|
KR
|
69 |
154 |
3.2e-36 |
SMART |
|
Tryp_SPc
|
179 |
421 |
3.53e-84 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224141
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes show occasional fibrin deposits in non-healing ulcerations and reduced neointima formation after arterial injury. They are susceptible to thrombosis after traumatic or inflammatory challenge and appear to be immunologically hyporesponsive displaying characteristics of functional anergy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,942,415 (GRCm39) |
D1379E |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,260 (GRCm39) |
T1794A |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,990,216 (GRCm39) |
D779V |
probably damaging |
Het |
| Ap3b1 |
G |
T |
13: 94,679,392 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,270,012 (GRCm39) |
V379A |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,006 (GRCm39) |
Y398C |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,268,286 (GRCm39) |
R800C |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,451,046 (GRCm39) |
H306Q |
probably damaging |
Het |
| Cckar |
C |
A |
5: 53,857,378 (GRCm39) |
R344L |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,281,648 (GRCm39) |
Q2829L |
unknown |
Het |
| Egfem1 |
A |
G |
3: 29,711,302 (GRCm39) |
I237V |
possibly damaging |
Het |
| Erlec1 |
T |
A |
11: 30,900,623 (GRCm39) |
K143* |
probably null |
Het |
| Glyat |
T |
G |
19: 12,628,626 (GRCm39) |
D140E |
probably benign |
Het |
| Grhl2 |
T |
C |
15: 37,336,545 (GRCm39) |
F50L |
probably damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,373 (GRCm39) |
V151A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,023 (GRCm39) |
Y2368C |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,777,723 (GRCm39) |
D235Y |
possibly damaging |
Het |
| Kctd3 |
C |
T |
1: 188,727,973 (GRCm39) |
V199I |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,615,443 (GRCm39) |
|
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,810,193 (GRCm39) |
|
probably benign |
Het |
| Nepro |
C |
T |
16: 44,549,668 (GRCm39) |
Q43* |
probably null |
Het |
| Ophn1 |
T |
C |
X: 97,846,720 (GRCm39) |
D74G |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,672,691 (GRCm39) |
V904A |
possibly damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,466 (GRCm39) |
K330E |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,814,570 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,181 (GRCm39) |
I386S |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,609 (GRCm39) |
Y264H |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,890,687 (GRCm39) |
D375A |
probably damaging |
Het |
| Tesl1 |
C |
A |
X: 23,772,838 (GRCm39) |
A113E |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,778,408 (GRCm39) |
D393G |
probably benign |
Het |
| Trim59 |
A |
C |
3: 68,944,712 (GRCm39) |
D209E |
probably benign |
Het |
| Ubqln3 |
G |
T |
7: 103,792,031 (GRCm39) |
Q20K |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,168,077 (GRCm39) |
D2808G |
probably damaging |
Het |
|
| Other mutations in Plau |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01831:Plau
|
APN |
14 |
20,887,838 (GRCm39) |
splice site |
probably benign |
|
|
IGL02902:Plau
|
APN |
14 |
20,889,965 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0426:Plau
|
UTSW |
14 |
20,892,382 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2006:Plau
|
UTSW |
14 |
20,888,760 (GRCm39) |
splice site |
probably null |
|
|
R2357:Plau
|
UTSW |
14 |
20,888,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Plau
|
UTSW |
14 |
20,891,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Plau
|
UTSW |
14 |
20,887,872 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6737:Plau
|
UTSW |
14 |
20,887,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7167:Plau
|
UTSW |
14 |
20,889,518 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7615:Plau
|
UTSW |
14 |
20,889,534 (GRCm39) |
nonsense |
probably null |
|
|
R7687:Plau
|
UTSW |
14 |
20,889,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Plau
|
UTSW |
14 |
20,892,393 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7824:Plau
|
UTSW |
14 |
20,892,393 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8200:Plau
|
UTSW |
14 |
20,889,181 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8685:Plau
|
UTSW |
14 |
20,889,627 (GRCm39) |
splice site |
probably benign |
|
|
R9007:Plau
|
UTSW |
14 |
20,889,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9077:Plau
|
UTSW |
14 |
20,889,949 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Plau
|
UTSW |
14 |
20,889,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Plau
|
UTSW |
14 |
20,891,082 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation