Incidental Mutation 'IGL01095:Cpa1'
| ID |
51298 |
| 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 # |
IGL01095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
30639217-30645360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30642968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 299
(I299F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031806]
|
| AlphaFold |
Q7TPZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031806
AA Change: I299F
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031806
Gene: ENSMUSG00000054446
AA Change: I299F
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
| Adgra1 |
A |
G |
7: 139,425,570 (GRCm39) |
T28A |
possibly damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,265,180 (GRCm39) |
E269G |
probably benign |
Het |
| Alkbh7 |
A |
G |
17: 57,304,470 (GRCm39) |
|
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,342,571 (GRCm39) |
T129A |
probably benign |
Het |
| Ap1s1 |
A |
G |
5: 137,070,663 (GRCm39) |
I117T |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,415,195 (GRCm39) |
P119S |
possibly damaging |
Het |
| Chid1 |
A |
G |
7: 141,110,142 (GRCm39) |
V62A |
probably damaging |
Het |
| Cuzd1 |
A |
G |
7: 130,917,865 (GRCm39) |
V245A |
probably damaging |
Het |
| Ddx39b |
T |
C |
17: 35,465,937 (GRCm39) |
S71P |
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,138,325 (GRCm39) |
Y708C |
probably damaging |
Het |
| Dnah3 |
C |
A |
7: 119,550,820 (GRCm39) |
L3166F |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,816,213 (GRCm39) |
E114G |
probably benign |
Het |
| Fap |
G |
A |
2: 62,354,545 (GRCm39) |
T448I |
possibly damaging |
Het |
| Fhl2 |
A |
T |
1: 43,170,841 (GRCm39) |
Y158N |
probably benign |
Het |
| Fscb |
A |
G |
12: 64,520,155 (GRCm39) |
V437A |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,490,629 (GRCm39) |
D88V |
probably damaging |
Het |
| Il5ra |
A |
T |
6: 106,719,605 (GRCm39) |
|
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,622,546 (GRCm39) |
Q302L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,322,776 (GRCm39) |
Y1857* |
probably null |
Het |
| Meis2 |
T |
C |
2: 115,694,905 (GRCm39) |
T406A |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,721,120 (GRCm39) |
S346R |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,952,378 (GRCm39) |
K816M |
probably damaging |
Het |
| Mysm1 |
C |
T |
4: 94,856,106 (GRCm39) |
|
probably null |
Het |
| Nyap1 |
C |
A |
5: 137,736,346 (GRCm39) |
R47L |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,910,954 (GRCm39) |
Y209H |
probably damaging |
Het |
| Or2v2 |
T |
G |
11: 49,003,680 (GRCm39) |
Y291S |
probably damaging |
Het |
| Or4g16 |
A |
G |
2: 111,136,966 (GRCm39) |
R139G |
probably benign |
Het |
| Or6c209 |
A |
G |
10: 129,483,498 (GRCm39) |
D167G |
probably benign |
Het |
| Or8b42 |
A |
G |
9: 38,341,811 (GRCm39) |
I78V |
probably benign |
Het |
| Or8d6 |
T |
C |
9: 39,853,976 (GRCm39) |
V140A |
probably benign |
Het |
| Pde4b |
T |
C |
4: 102,363,241 (GRCm39) |
|
probably null |
Het |
| Psd3 |
G |
A |
8: 68,361,165 (GRCm39) |
T99M |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,937,477 (GRCm39) |
E390G |
probably damaging |
Het |
| Rabgap1l |
A |
C |
1: 160,566,539 (GRCm39) |
C58W |
probably benign |
Het |
| Rasd1 |
A |
G |
11: 59,855,117 (GRCm39) |
I121T |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,051 (GRCm39) |
N1284D |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,285,891 (GRCm39) |
V525A |
possibly damaging |
Het |
|
| Other mutations in Cpa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation