|Institutional Source||Beutler Lab|
|Gene Name||carboxypeptidase E|
|Synonyms||Cph-1, CPH, carboxypeptidase H, Cph1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0469 (G1)|
|Chromosomal Location||64592542-64693054 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 64611467 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 233 (I233F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048555 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048967]|
|Predicted Effect||probably damaging
AA Change: I233F
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: I233F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5435|
|Coding Region Coverage||
FUNCTION: This gene encodes carboxypeptidase E, a prohormone-processing exopeptidase found in secretory granules of endocrine and neuroendocrine cells. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme that cleaves the C-terminal basic residues of protein substrates. A missense mutation in this gene is responsible for the obesity phenotype in a mouse model known as the "fat mouse." Mice lacking the functional product of this gene exhibit impaired processing of multiple peptide hormones such as proinsulin, prodynorphin, proneurotensin, promelanin-concentrating hormone and pro-opiomelanocortin. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a spontaneous or a targeted null mutation display progressive obesity, abnormal blood glucose and lipid regulation, and have reduced fertility. Aberrant prohormone processing and secretion appears to be the cause of these phenotypes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cpe||
(F):5'- ACTACAAGCTGTTCTGCCCATTACC -3'
(R):5'- CCTGTCATGTTGCGTATTGCTCCTAAG -3'
(F):5'- gagggggtgaagcaagg -3'
(R):5'- ACATCACCAGTGGCGATTGT -3'