|Institutional Source||Beutler Lab|
|Gene Name||carboxypeptidase A1, pancreatic|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1548 (G1)|
|Chromosomal Location||30639218-30645363 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 30642335 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 245 (G245D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031806 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031806]|
|Predicted Effect||probably damaging
AA Change: G245D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: G245D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.294|
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
FUNCTION: This gene encodes carboxypeptidase A, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme. This gene is expressed in pancreas, the encoded protein is a major component of digestive enzymes secreted by pancreas and plays an important role in the process of digestion. This gene is located in a cluster of related carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cpa1||
(F):5'- GACAGTGGGATGTACCTTTGAGCC -3'
(R):5'- AAGTCCCTGAGTGTCACCTTCACC -3'
(F):5'- ctattgggggctgtctgtg -3'
(R):5'- GAGTGTCACCTTCACCCAGAG -3'