Incidental Mutation 'P0026:Cpa1'
| ID |
8122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa1
|
| Ensembl Gene |
ENSMUSG00000054446 |
| Gene Name |
carboxypeptidase A1, pancreatic |
| Synonyms |
0910001L12Rik |
| MMRRC Submission |
038279-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30639217-30645360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30640905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 132
(M132K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031806]
|
| AlphaFold |
Q7TPZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031806
AA Change: M132K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031806
Gene: ENSMUSG00000054446
AA Change: M132K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Propep_M14
|
26 |
100 |
1.6e-24 |
PFAM |
|
Zn_pept
|
122 |
402 |
1.09e-132 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139004
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 78.9%
- 10x: 59.5%
- 20x: 38.1%
|
| Validation Efficiency |
97% (63/65) |
| MGI Phenotype |
FUNCTION: This gene encodes carboxypeptidase A, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme. This gene is expressed in pancreas, the encoded protein is a major component of digestive enzymes secreted by pancreas and plays an important role in the process of digestion. This gene is located in a cluster of related carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,492,882 (GRCm39) |
N182D |
probably benign |
Het |
| Acad10 |
T |
C |
5: 121,775,415 (GRCm39) |
Y429C |
probably damaging |
Het |
| Aifm3 |
A |
T |
16: 17,324,981 (GRCm39) |
|
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,656 (GRCm39) |
H339R |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,865,963 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,612 (GRCm39) |
N2073K |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,355,773 (GRCm39) |
N2227K |
probably damaging |
Het |
| Dnpep |
C |
T |
1: 75,285,329 (GRCm39) |
V468I |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,183,711 (GRCm39) |
|
probably null |
Het |
| Fam124a |
T |
G |
14: 62,843,571 (GRCm39) |
L360V |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,667 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,991,792 (GRCm39) |
S140P |
probably damaging |
Het |
| Gm10440 |
T |
C |
5: 54,513,511 (GRCm39) |
|
noncoding transcript |
Het |
| Il12rb1 |
A |
G |
8: 71,265,185 (GRCm39) |
D167G |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,225,788 (GRCm39) |
K590* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,150 (GRCm39) |
F500S |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,138,326 (GRCm39) |
V238A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,458,036 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,415,840 (GRCm39) |
V382E |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,081,923 (GRCm39) |
N216S |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,633,672 (GRCm39) |
F63I |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,926,994 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,523,734 (GRCm39) |
Y1751H |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,824,931 (GRCm39) |
P366S |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,084 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zfp354a |
G |
A |
11: 50,952,325 (GRCm39) |
G85R |
probably null |
Het |
|
| Other mutations in Cpa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Cpa1
|
APN |
6 |
30,642,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01288:Cpa1
|
APN |
6 |
30,640,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Cpa1
|
APN |
6 |
30,645,275 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01504:Cpa1
|
APN |
6 |
30,640,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01980:Cpa1
|
APN |
6 |
30,641,581 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02885:Cpa1
|
APN |
6 |
30,645,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4544001:Cpa1
|
UTSW |
6 |
30,641,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0398:Cpa1
|
UTSW |
6 |
30,645,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0403:Cpa1
|
UTSW |
6 |
30,641,856 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1117:Cpa1
|
UTSW |
6 |
30,645,260 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1548:Cpa1
|
UTSW |
6 |
30,642,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1631:Cpa1
|
UTSW |
6 |
30,640,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Cpa1
|
UTSW |
6 |
30,643,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Cpa1
|
UTSW |
6 |
30,641,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Cpa1
|
UTSW |
6 |
30,641,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2204:Cpa1
|
UTSW |
6 |
30,641,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Cpa1
|
UTSW |
6 |
30,641,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Cpa1
|
UTSW |
6 |
30,639,515 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5497:Cpa1
|
UTSW |
6 |
30,640,729 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6306:Cpa1
|
UTSW |
6 |
30,640,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Cpa1
|
UTSW |
6 |
30,640,676 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7085:Cpa1
|
UTSW |
6 |
30,643,619 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7564:Cpa1
|
UTSW |
6 |
30,641,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8743:Cpa1
|
UTSW |
6 |
30,642,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Cpa1
|
UTSW |
6 |
30,645,251 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9535:Cpa1
|
UTSW |
6 |
30,641,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Cpa1
|
UTSW |
6 |
30,640,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation