|Institutional Source||Beutler Lab|
|Gene Name||progastricsin (pepsinogen C)|
|Synonyms||Upg1, 2210410L06Rik, Upg-1|
|Is this an essential gene?||Probably non essential (E-score: 0.057)|
|Stock #||R3833 (G1)|
|Chromosomal Location||47726842-47734482 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 47729311 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 93 (F93L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024782 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024782] [ENSMUST00000144955]|
AA Change: F93L
PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: F93L
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||97% (70/72)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pgc||
(F):5'- CACAGACTGAGCATCCGTTG -3'
(R):5'- CAGCCTCTTGATGTGATTTGGAC -3'
(F):5'- TTCGAGGGAAGACTTGGGCC -3'
(R):5'- TGGACATGTCATGTGACTACAGACC -3'