|Institutional Source||Beutler Lab|
|Gene Name||prolylcarboxypeptidase (angiotensinase C)|
|Essential gene?||Probably non essential (E-score: 0.086)|
|Stock #||R1823 (G1)|
|Chromosomal Location||92874470-92934583 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 92928675 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 349 (D349V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000146597 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076052] [ENSMUST00000207594]|
AA Change: D384V
PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: D384V
AA Change: D349V
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (87/89)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased body length, weight, and fat pads with resistance to diet-induced obesity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prcp||
(F):5'- CTGAATGACCTTGAGCCTAGC -3'
(R):5'- GCACAGTGGAAAAGCATCAC -3'
(F):5'- TTGAGCCTAGCTGAATGACC -3'
(R):5'- AATGTTACTTTAGTGCCTACCACC -3'