|Institutional Source||Beutler Lab|
|Gene Name||proprotein convertase subtilisin/kexin type 2|
|Synonyms||Phpp-2, SPC2, Nec2, PC2, Nec-2, prohormone convertase 2, 6330411F23Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.296)|
|Stock #||R7289 (G1)|
|Chromosomal Location||143546156-143816285 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 143690423 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 164 (I164F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028905 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028905]|
|Predicted Effect||probably damaging
AA Change: I164F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I164F
|Coding Region Coverage||
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 protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for disruptions of this gene display abnormalities in the maturation of peptide hormones leading to reduced female fertility, increased blood pressure on a high salt diet, and abnormal glucose metabolism. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcsk2||
(F):5'- CACCCAAAAGCATGTTTCATGAAG -3'
(R):5'- TGTTGAGAGCATCACCAACTG -3'
(F):5'- AAGCATGTTTCATGAAGGGTGTAGC -3'
(R):5'- GTTGAGAGCATCACCAACTGATCAG -3'