Incidental Mutation 'IGL01504:Cpa1'
| ID |
88979 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpa1
|
| Ensembl Gene |
ENSMUSG00000054446 |
| Gene Name |
carboxypeptidase A1, pancreatic |
| Synonyms |
0910001L12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
30639217-30645360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30640720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 121
(T121S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031806]
|
| AlphaFold |
Q7TPZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031806
AA Change: T121S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031806
Gene: ENSMUSG00000054446
AA Change: T121S
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,284,231 (GRCm39) |
I326N |
probably damaging |
Het |
| Acot6 |
G |
A |
12: 84,156,176 (GRCm39) |
V375M |
probably benign |
Het |
| Als2cl |
G |
A |
9: 110,718,351 (GRCm39) |
R364Q |
probably benign |
Het |
| Ctnnbl1 |
A |
G |
2: 157,660,036 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
C |
A |
3: 116,694,307 (GRCm39) |
Q76K |
probably damaging |
Het |
| Gja10 |
T |
A |
4: 32,602,375 (GRCm39) |
D3V |
probably damaging |
Het |
| Insyn2a |
T |
A |
7: 134,519,669 (GRCm39) |
Q287L |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,796,608 (GRCm39) |
E400G |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,505 (GRCm39) |
T47A |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,709,080 (GRCm39) |
K336R |
probably benign |
Het |
| Ndrg4 |
C |
A |
8: 96,432,894 (GRCm39) |
L34I |
probably damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,469,540 (GRCm39) |
H148Q |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,085,528 (GRCm39) |
H89R |
probably damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,724,160 (GRCm39) |
N266D |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,472,189 (GRCm39) |
S129P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,202,612 (GRCm39) |
E1659G |
probably damaging |
Het |
| Trpa1 |
T |
G |
1: 14,952,443 (GRCm39) |
I863L |
possibly damaging |
Het |
| Vmn1r177 |
C |
T |
7: 23,565,835 (GRCm39) |
V14M |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,285 (GRCm39) |
M96K |
probably benign |
Het |
| Zp1 |
C |
T |
19: 10,896,375 (GRCm39) |
V117M |
probably damaging |
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 |
|
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 |
|
P0026:Cpa1
|
UTSW |
6 |
30,640,905 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2013-12-03 |
Incidental Mutation