|Institutional Source||Beutler Lab|
|Gene Name||proprotein convertase subtilisin/kexin type 9|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6010 (G1)|
|Chromosomal Location||106442329-106464329 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 106454272 bp|
|Amino Acid Change||Arginine to Histidine at position 254 (R254H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055757 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049507]|
|Predicted Effect||possibly damaging
AA Change: R254H
PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: R254H
|Meta Mutation Damage Score||0.1267|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous null mice exhibit increased clearance of circulating cholesterol and decreased plasma cholesterol levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcsk9||
(F):5'- GCATTCTTGATCTCGGGACC -3'
(R):5'- CTCACTTCATCTCAGAGGTGGG -3'
(F):5'- GGACCCTCCCAACTCTATCTC -3'
(R):5'- ACCCCTGGAGCATTATGTCAG -3'