Incidental Mutation 'IGL01838:Cpe'
ID 155024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpe
Ensembl Gene ENSMUSG00000037852
Gene Name carboxypeptidase E
Synonyms Cph-1, NF-alpha1, carboxypeptidase H, Cph1, CPH
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01838
Quality Score
Status
Chromosome 8
Chromosomal Location 65045576-65146088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65047998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 422 (T422K)
Ref Sequence ENSEMBL: ENSMUSP00000048555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048967]
AlphaFold Q00493
Predicted Effect possibly damaging
Transcript: ENSMUST00000048967
AA Change: T422K

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048555
Gene: ENSMUSG00000037852
AA Change: T422K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Zn_pept 175 465 1.85e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210783
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,499,035 (GRCm39) S208P probably benign Het
Dis3l C A 9: 64,215,581 (GRCm39) V888L probably benign Het
Dnah7b T A 1: 46,397,297 (GRCm39) Y3909* probably null Het
Dnajb8 G A 6: 88,200,033 (GRCm39) V190M possibly damaging Het
Grip2 A G 6: 91,741,744 (GRCm39) V927A possibly damaging Het
Hyal3 C T 9: 107,463,786 (GRCm39) R304C possibly damaging Het
Igkv8-21 A G 6: 70,292,009 (GRCm39) S78P probably damaging Het
Lrrc7 A G 3: 157,891,100 (GRCm39) S356P probably damaging Het
Meiob T C 17: 25,042,643 (GRCm39) V157A possibly damaging Het
Mrpl48 C T 7: 100,201,860 (GRCm39) V35M probably damaging Het
Myo9b T C 8: 71,787,034 (GRCm39) Y739H probably damaging Het
Nfyb A G 10: 82,586,642 (GRCm39) L174S probably benign Het
Prm2 T C 16: 10,609,672 (GRCm39) probably benign Het
Prss50 T C 9: 110,693,560 (GRCm39) L432P probably benign Het
Raly T A 2: 154,701,590 (GRCm39) probably benign Het
Scn11a A T 9: 119,587,649 (GRCm39) M1365K probably damaging Het
Slc28a2b C A 2: 122,348,464 (GRCm39) F270L possibly damaging Het
Spred1 T G 2: 117,008,062 (GRCm39) S323A probably benign Het
Svep1 T C 4: 58,121,910 (GRCm39) E761G possibly damaging Het
Thbs3 A T 3: 89,126,365 (GRCm39) K229* probably null Het
Thoc1 G A 18: 9,993,386 (GRCm39) G582S possibly damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Vmn2r114 T C 17: 23,515,956 (GRCm39) T512A probably benign Het
Wee1 T C 7: 109,723,744 (GRCm39) S220P probably benign Het
Other mutations in Cpe
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3800:Cpe UTSW 8 65,070,651 (GRCm39) missense probably benign 0.07
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
Posted On 2014-02-04