Incidental Mutation 'R9656:Cpe'
ID 727326
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9656 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 65045576-65146088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65047980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 428 (Y428C)
Ref Sequence ENSEMBL: ENSMUSP00000048555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048967]
AlphaFold Q00493
Predicted Effect probably damaging
Transcript: ENSMUST00000048967
AA Change: Y428C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048555
Gene: ENSMUSG00000037852
AA Change: Y428C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Zn_pept 175 465 1.85e-62 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 G A 8: 10,037,991 (GRCm39) G196E possibly damaging Het
Atad5 G T 11: 79,980,542 (GRCm39) probably benign Het
Atxn2 C T 5: 121,922,061 (GRCm39) T635I possibly damaging Het
Bbs10 T A 10: 111,135,545 (GRCm39) N219K probably benign Het
Bsn T A 9: 107,994,407 (GRCm39) T623S probably benign Het
Btnl9 T C 11: 49,060,008 (GRCm39) D580G probably damaging Het
Cckar A G 5: 53,857,318 (GRCm39) L364P probably damaging Het
Ccn5 A G 2: 163,670,985 (GRCm39) D164G probably benign Het
Cfap46 A T 7: 139,235,816 (GRCm39) M631K Het
Col1a1 T A 11: 94,839,372 (GRCm39) S1006T unknown Het
Cyp2d26 C A 15: 82,677,059 (GRCm39) V122L probably benign Het
Fam114a1 T C 5: 65,163,246 (GRCm39) I181T probably benign Het
Fam83b A G 9: 76,452,863 (GRCm39) V68A probably benign Het
Fanca A C 8: 124,031,482 (GRCm39) V403G probably benign Het
Grin2a T C 16: 9,397,471 (GRCm39) H872R possibly damaging Het
Grpel2 G T 18: 61,859,361 (GRCm39) R4S probably benign Het
Gstm1 T C 3: 107,925,072 (GRCm39) Y7C probably damaging Het
Hace1 A T 10: 45,547,545 (GRCm39) I497F probably benign Het
Hspg2 T C 4: 137,279,196 (GRCm39) V3093A probably benign Het
Ighv3-4 A T 12: 114,217,295 (GRCm39) F99I possibly damaging Het
Ints3 T C 3: 90,299,839 (GRCm39) M963V probably null Het
Krt12 T C 11: 99,309,471 (GRCm39) E263G Het
L1td1 T C 4: 98,622,223 (GRCm39) F262L probably benign Het
Lrp2bp A G 8: 46,466,158 (GRCm39) H110R probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Ncoa6 A G 2: 155,274,846 (GRCm39) I135T probably damaging Het
Nfatc3 G A 8: 106,830,766 (GRCm39) R695H probably damaging Het
Nkx1-2 T A 7: 132,201,228 (GRCm39) K10* probably null Het
Or2t44 G A 11: 58,677,635 (GRCm39) A192T possibly damaging Het
Or4f54 A T 2: 111,122,633 (GRCm39) T7S probably benign Het
Or5b110-ps1 T C 19: 13,260,035 (GRCm39) H129R possibly damaging Het
Or5b21 A G 19: 12,839,247 (GRCm39) Y36C probably damaging Het
Otog A G 7: 45,959,567 (GRCm39) T719A probably damaging Het
Prkdc T G 16: 15,617,818 (GRCm39) I3216M probably benign Het
Pygm A G 19: 6,438,187 (GRCm39) D252G probably benign Het
Rae1 T A 2: 172,854,590 (GRCm39) Y332* probably null Het
Rbm12 A T 2: 155,940,121 (GRCm39) D50E unknown Het
Rbm6 G A 9: 107,656,778 (GRCm39) R1000W probably damaging Het
Rd3l A T 12: 111,946,614 (GRCm39) V54E possibly damaging Het
Rft1 T C 14: 30,404,714 (GRCm39) V370A probably benign Het
Rfx8 T C 1: 39,709,679 (GRCm39) I449M probably benign Het
Satb1 A T 17: 52,112,264 (GRCm39) S117T possibly damaging Het
Slc24a2 T C 4: 86,968,144 (GRCm39) Y370C probably damaging Het
Slc5a4b C A 10: 75,944,391 (GRCm39) V85L probably damaging Het
Snrpn A T 7: 59,635,715 (GRCm39) V95E possibly damaging Het
Spata31e5 G T 1: 28,816,536 (GRCm39) H499N probably benign Het
Spata33 A T 8: 123,948,758 (GRCm39) N130I possibly damaging Het
Spmip2 T A 3: 79,313,183 (GRCm39) F86I probably benign Het
Tap1 A G 17: 34,412,525 (GRCm39) S521G probably damaging Het
Tbc1d13 C T 2: 30,032,429 (GRCm39) T180I possibly damaging Het
Tgm7 G A 2: 120,940,191 (GRCm39) probably benign Het
Tiam1 A G 16: 89,664,459 (GRCm39) M583T probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Vmn1r43 A T 6: 89,847,440 (GRCm39) H15Q possibly damaging Het
Zfp329 A T 7: 12,544,417 (GRCm39) V369E probably damaging Het
Zfp467 T A 6: 48,419,603 (GRCm39) E35V 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
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
Predicted Primers PCR Primer
(F):5'- ATTGAGTAAGGCACCGAGC -3'
(R):5'- GGACTCACTGAAAGTCAACCGAG -3'

Sequencing Primer
(F):5'- GTCACCGAACTTTGTTAGATCTCAG -3'
(R):5'- TCAACCGAGCTAATGATGTGCTG -3'
Posted On 2022-10-06