Incidental Mutation 'PIT4544001:Cpa1'
| ID |
556408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa1
|
| Ensembl Gene |
ENSMUSG00000054446 |
| Gene Name |
carboxypeptidase A1, pancreatic |
| Synonyms |
0910001L12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4544001 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
30639217-30645360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30641857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 227
(V227A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031806]
|
| AlphaFold |
Q7TPZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031806
AA Change: V227A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031806
Gene: ENSMUSG00000054446
AA Change: V227A
| 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 |
|
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,222,943 (GRCm39) |
D248G |
probably damaging |
Het |
| Abcc12 |
A |
T |
8: 87,231,875 (GRCm39) |
M1358K |
possibly damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,596,157 (GRCm39) |
E60K |
probably damaging |
Het |
| Aff3 |
C |
T |
1: 38,249,443 (GRCm39) |
A555T |
probably benign |
Het |
| Aspn |
A |
T |
13: 49,707,458 (GRCm39) |
K106* |
probably null |
Het |
| Atp8b3 |
A |
T |
10: 80,366,420 (GRCm39) |
L281Q |
probably benign |
Het |
| Ccdc54 |
A |
T |
16: 50,410,343 (GRCm39) |
C308S |
possibly damaging |
Het |
| Dld |
G |
A |
12: 31,385,556 (GRCm39) |
Q262* |
probably null |
Het |
| Eif4e3 |
A |
T |
6: 99,609,314 (GRCm39) |
W161R |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,471 (GRCm39) |
T178S |
possibly damaging |
Het |
| Erbb2 |
A |
T |
11: 98,311,865 (GRCm39) |
T134S |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,336,556 (GRCm39) |
E358D |
possibly damaging |
Het |
| Gon7 |
A |
T |
12: 102,720,409 (GRCm39) |
D74E |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,318,262 (GRCm39) |
E3869G |
probably damaging |
Het |
| Ifit1bl1 |
C |
T |
19: 34,571,415 (GRCm39) |
M347I |
possibly damaging |
Het |
| Ipo5 |
T |
A |
14: 121,165,949 (GRCm39) |
D331E |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,793,178 (GRCm39) |
C355Y |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,532,098 (GRCm38) |
S196P |
probably damaging |
Het |
| Nudt21 |
A |
T |
8: 94,746,225 (GRCm39) |
F158I |
unknown |
Het |
| Padi3 |
T |
C |
4: 140,518,794 (GRCm39) |
T443A |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,950,411 (GRCm39) |
V323A |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,738,266 (GRCm39) |
I520V |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,334,411 (GRCm39) |
S73P |
probably benign |
Het |
| Rfk |
T |
C |
19: 17,372,708 (GRCm39) |
S77P |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,941,987 (GRCm39) |
N545S |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,380,232 (GRCm39) |
N1349S |
probably damaging |
Het |
| Slc22a27 |
T |
A |
19: 7,887,103 (GRCm39) |
Q262L |
probably damaging |
Het |
| Slc34a3 |
T |
C |
2: 25,120,607 (GRCm39) |
D440G |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,186,402 (GRCm39) |
L161P |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,693,048 (GRCm39) |
|
probably null |
Het |
| Tekt1 |
C |
T |
11: 72,245,660 (GRCm39) |
R165H |
probably damaging |
Het |
| Tmpo |
T |
C |
10: 90,997,976 (GRCm39) |
N604D |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,848,998 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,790,550 (GRCm39) |
H513Q |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,129,871 (GRCm39) |
N664D |
possibly damaging |
Het |
| Usp37 |
G |
A |
1: 74,509,738 (GRCm39) |
T477I |
possibly damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,818,556 (GRCm39) |
L660* |
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 |
|
P0026:Cpa1
|
UTSW |
6 |
30,640,905 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTAGAAGCAATGCCCAC -3'
(R):5'- GTGTCTATGGAAATCGGGACTG -3'
Sequencing Primer
(F):5'- TAGAAGCAATGCCCACAAAGG -3'
(R):5'- TTGAGGACAATGTCAGCTCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation