Incidental Mutation 'R2989:Cpe'
| ID |
257863 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2989 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
65045576-65146088 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65050549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 386
(N386K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048967]
|
| AlphaFold |
Q00493 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048967
AA Change: N386K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000048555
Gene: ENSMUSG00000037852
AA Change: N386K
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,729,866 (GRCm39) |
T205I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,150,694 (GRCm39) |
N31K |
possibly damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,622 (GRCm39) |
D156G |
possibly damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Coil |
C |
A |
11: 88,878,805 (GRCm39) |
A520D |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,302 (GRCm39) |
I4295T |
probably benign |
Het |
| Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
| G530012D18Rik |
GAGAGAGACAGAGAGACAGAGA |
GAGAGAGACAGAGA |
1: 85,504,937 (GRCm39) |
|
probably null |
Het |
| Intu |
A |
G |
3: 40,647,140 (GRCm39) |
K671R |
probably benign |
Het |
| Jup |
T |
C |
11: 100,267,667 (GRCm39) |
D552G |
possibly damaging |
Het |
| Kcnk9 |
T |
C |
15: 72,384,207 (GRCm39) |
T324A |
unknown |
Het |
| Mettl5 |
G |
T |
2: 69,711,659 (GRCm39) |
A69E |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,583,831 (GRCm39) |
M303K |
probably benign |
Het |
| Rpf2 |
A |
G |
10: 40,115,749 (GRCm39) |
S77P |
probably benign |
Het |
| Sgo1 |
A |
G |
17: 53,994,162 (GRCm39) |
Y97H |
probably benign |
Het |
| Srsf12 |
T |
C |
4: 33,223,599 (GRCm39) |
Y33H |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,652,540 (GRCm39) |
M56K |
unknown |
Het |
| Trafd1 |
T |
C |
5: 121,517,529 (GRCm39) |
T63A |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,371,881 (GRCm39) |
V777I |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,190,869 (GRCm39) |
E937G |
possibly damaging |
Het |
| Zfp677 |
T |
C |
17: 21,617,114 (GRCm39) |
I57T |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,622,347 (GRCm39) |
I424N |
probably benign |
Het |
|
| Other mutations in Cpe |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCACAGAATAACGTGGAATTG -3'
(R):5'- CCAGAAAAGAATGCGCTGGC -3'
Sequencing Primer
(F):5'- TGTAAAGGCAGATGAAGCAATTGTTG -3'
(R):5'- AAAGAATGCGCTGGCGGTTTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation