Incidental Mutation 'R3800:Cpe'
ID 272927
Institutional Source Beutler Lab
Gene Symbol Cpe
Ensembl Gene ENSMUSG00000037852
Gene Name carboxypeptidase E
Synonyms Cph-1, NF-alpha1, carboxypeptidase H, Cph1, CPH
MMRRC Submission 040759-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3800 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 65045576-65146088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65070651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 198 (V198A)
Ref Sequence ENSEMBL: ENSMUSP00000048555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048967]
AlphaFold Q00493
Predicted Effect probably benign
Transcript: ENSMUST00000048967
AA Change: V198A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000048555
Gene: ENSMUSG00000037852
AA Change: V198A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Zn_pept 175 465 1.85e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211312
Meta Mutation Damage Score 0.0927 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 95% (52/55)
MGI Phenotype 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
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,385,025 (GRCm39) D313E possibly damaging Het
Abca12 C T 1: 71,305,046 (GRCm39) V2070I probably damaging Het
Adam23 C T 1: 63,590,933 (GRCm39) R467* probably null Het
Adgrf5 T C 17: 43,757,951 (GRCm39) probably benign Het
Aire A G 10: 77,877,889 (GRCm39) probably null Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgap28 T C 17: 68,180,031 (GRCm39) D268G probably damaging Het
Btbd9 T C 17: 30,732,633 (GRCm39) I351V possibly damaging Het
Cacna1b C T 2: 24,548,971 (GRCm39) R1138Q probably benign Het
Caskin1 T G 17: 24,720,246 (GRCm39) V456G probably benign Het
Ccdc96 A G 5: 36,643,611 (GRCm39) D539G probably damaging Het
Cep290 T C 10: 100,408,803 (GRCm39) I2425T probably damaging Het
Cfap251 T C 5: 123,392,784 (GRCm39) probably benign Het
Col18a1 C A 10: 76,903,221 (GRCm39) G998* probably null Het
Cux1 A G 5: 136,344,887 (GRCm39) M364T probably damaging Het
Dock8 T A 19: 25,141,716 (GRCm39) N1396K probably benign Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Eif1ad19 T C 12: 87,740,491 (GRCm39) K23E possibly damaging Het
Fat4 T A 3: 39,035,423 (GRCm39) V3025E possibly damaging Het
Fbn1 T A 2: 125,187,894 (GRCm39) D1545V possibly damaging Het
Fbxw16 T G 9: 109,265,665 (GRCm39) I385L probably damaging Het
Fnbp1 T C 2: 30,923,143 (GRCm39) E341G probably damaging Het
Gm9845 T C 3: 39,412,642 (GRCm39) noncoding transcript Het
Gmps T C 3: 63,889,866 (GRCm39) Y82H possibly damaging Het
Habp4 C T 13: 64,321,917 (GRCm39) R185C probably damaging Het
Ift122 T A 6: 115,902,867 (GRCm39) S1209T probably benign Het
Ino80c T C 18: 24,254,752 (GRCm39) Y36C probably damaging Het
Inpp5b C T 4: 124,679,138 (GRCm39) T515I probably damaging Het
Kcnj6 G A 16: 94,633,886 (GRCm39) T75M probably damaging Het
Map2k4 A T 11: 65,581,607 (GRCm39) Y368* probably null Het
Mbd6 A G 10: 127,121,036 (GRCm39) probably benign Het
Mccc1 G A 3: 36,054,658 (GRCm39) R17W probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncoa3 T C 2: 165,901,639 (GRCm39) M1004T possibly damaging Het
Npnt C A 3: 132,612,524 (GRCm39) G87V probably damaging Het
Or10a4 C T 7: 106,696,938 (GRCm39) Q89* probably null Het
Or14j1 T G 17: 38,146,848 (GRCm39) N319K probably benign Het
Ppp2r1a A T 17: 21,182,972 (GRCm39) D552V possibly damaging Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rnf34 A G 5: 123,002,273 (GRCm39) H77R probably damaging Het
Samm50 T C 15: 84,076,575 (GRCm39) V4A probably damaging Het
Sdccag8 A T 1: 176,695,904 (GRCm39) R403* probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp6 A G 9: 79,994,735 (GRCm39) R25G possibly damaging Het
Shc2 C T 10: 79,462,707 (GRCm39) V272I probably benign Het
Smarcd3 T A 5: 24,798,225 (GRCm39) K403* probably null Het
Srgap2 T A 1: 131,238,297 (GRCm39) I672F probably damaging Het
Ttn C T 2: 76,582,941 (GRCm39) V22651I probably damaging Het
Ubash3a T C 17: 31,450,444 (GRCm39) V373A probably benign Het
Vav3 A G 3: 109,535,355 (GRCm39) K36E probably benign Het
Vmn2r65 A G 7: 84,589,738 (GRCm39) V726A possibly damaging Het
Other mutations in Cpe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01838:Cpe APN 8 65,047,998 (GRCm39) missense possibly damaging 0.46
IGL02626:Cpe APN 8 65,145,829 (GRCm39) missense probably benign 0.01
R0110:Cpe UTSW 8 65,064,501 (GRCm39) missense probably damaging 1.00
R0469:Cpe UTSW 8 65,064,501 (GRCm39) missense probably damaging 1.00
R0510:Cpe UTSW 8 65,064,501 (GRCm39) missense probably damaging 1.00
R0633:Cpe UTSW 8 65,062,237 (GRCm39) missense probably damaging 1.00
R1480:Cpe UTSW 8 65,047,969 (GRCm39) missense probably benign 0.00
R1738:Cpe UTSW 8 65,064,475 (GRCm39) missense probably damaging 1.00
R1922:Cpe UTSW 8 65,070,723 (GRCm39) missense probably benign 0.09
R2989:Cpe UTSW 8 65,050,549 (GRCm39) missense probably benign 0.00
R5688:Cpe UTSW 8 65,062,189 (GRCm39) missense possibly damaging 0.80
R6285:Cpe UTSW 8 65,070,645 (GRCm39) missense probably benign 0.00
R6869:Cpe UTSW 8 65,072,461 (GRCm39) missense probably benign 0.09
R7716:Cpe UTSW 8 65,064,431 (GRCm39) missense probably damaging 1.00
R7734:Cpe UTSW 8 65,070,654 (GRCm39) missense probably benign 0.30
R7740:Cpe UTSW 8 65,050,562 (GRCm39) missense possibly damaging 0.92
R7940:Cpe UTSW 8 65,047,945 (GRCm39) missense probably damaging 1.00
R9656:Cpe UTSW 8 65,047,980 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGCCTTAGCCTTGAGTC -3'
(R):5'- AGCAGTACTGGGAGGATATTGC -3'

Sequencing Primer
(F):5'- CAGATCTCTGAGTTCAGTGCCAG -3'
(R):5'- GGATATTGCAATAGACAATCTCAGG -3'
Posted On 2015-03-25