|Institutional Source||Beutler Lab|
|Gene Name||plasminogen activator, tissue|
|Synonyms||t-PA, D8Ertd2e, tPA|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1065 (G1)|
|Chromosomal Location||22757727-22782844 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 22776863 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 290 (D290E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033941 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033941]|
|Predicted Effect||probably damaging
AA Change: D290E
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: D290E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
FUNCTION: This gene encodes a key enzyme of the fibrinolytic pathway. The encoded protein undergoes proteolytic processing by plasmin to generate a heterodimeric serine protease that cleaves the proenzyme plasminogen to produce plasmin, a protease that is required to break down fibrin clots. Additionally, the encoded protein is involved in other biological processes such as synaptic plasticity, cell migration and tissue remodeling. Mice lacking the encoded protein display a reduction in long-term potentiation in hippocampus and conversely, transgenic mice overexpressing the encoded protein have increased and prolonged long-term potentiation. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal behavior, CNS synpatic transmission, and response to injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plat||
(F):5'- AGTAGCTTTCAGTTCTTCCCAACGC -3'
(R):5'- CCCTAGCTGTGGTCAAGAAAACCTC -3'
(F):5'- AGTTCTTCCCAACGCTCATAG -3'
(R):5'- TGTGGTCAAGAAAACCTCTCTACC -3'