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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |