|Institutional Source||Beutler Lab|
|Gene Name||protein C|
|Synonyms||PC, inactivator of coagulation factors Va, VIII|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5917 (G1)|
|Chromosomal Location||32123129-32139570 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 32127460 bp|
|Amino Acid Change||Aspartic acid to Valine at position 204 (D204V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000132226 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000171765]|
|Predicted Effect||probably benign
AA Change: D204V
PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: D204V
|Coding Region Coverage||
FUNCTION: This gene encodes the vitamin K-dependent protein C, which plays a vital role in the anticoagulation pathway. The encoded protein undergoes proteolytic processing including activation by thrombin-thrombomodulin complex to form the anticoagulant serine protease that degrades activated coagulation factors. A complete lack of the encoded protein in mice results in severe perinatal consumptive coagulopathy in the brain and liver, resulting in death within 24 hours after birth. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Proc||
(F):5'- GATGCATGCCCTTCCCTGAC -3'
(R):5'- AACTCTTGCTAGTAGGTGGCAC -3'
(F):5'- ACCATGCCCATTTCTATCCATACCAG -3'
(R):5'- CACTTCTTGAAGCGTCCAGGATG -3'