|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly non essential (E-score: 0.276)|
|Stock #||R6166 (G1)|
|Chromosomal Location||12378609-12419384 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 12398114 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 373 (V373E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014578 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014578]|
|Predicted Effect||probably damaging
AA Change: V373E
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: V373E
|Coding Region Coverage||
|Validation Efficiency||97% (57/59)|
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||
|Other mutations in Plg||
(F):5'- CGTGGTACAACACTATAAATGGTG -3'
(R):5'- TTTGGTCCACACGAGTTAGCC -3'
(F):5'- TGTGAGCATACACACACTACAC -3'
(R):5'- TTGGTCCACACGAGTTAGCCTAAAG -3'