|Institutional Source||Beutler Lab|
|Gene Name||plasminogen activator, urokinase|
|Synonyms||urokinase-type plasminogen activator, uPA, u-PA|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6737 (G1)|
|Chromosomal Location||20836660-20843385 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 20837816 bp|
|Amino Acid Change||Tyrosine to Aspartic acid at position 43 (Y43D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022368 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022368] [ENSMUST00000224141]|
|Predicted Effect||probably damaging
AA Change: Y43D
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: Y43D
|Predicted Effect||probably benign
|Coding Region Coverage||
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||
|Other mutations in Plau||
(F):5'- TGGCAGTGTACTTGGAGCTC -3'
(R):5'- CACACTTGTATAGCCACTACTTCATG -3'
(F):5'- AGCTCCTGATGAATGTGAGTATC -3'
(R):5'- ACCTCTATGGGTGCTGAAAC -3'