Incidental Mutation 'R1117:Cpa1'
ID |
97410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpa1
|
Ensembl Gene |
ENSMUSG00000054446 |
Gene Name |
carboxypeptidase A1, pancreatic |
Synonyms |
0910001L12Rik |
MMRRC Submission |
039190-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1117 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
30639217-30645360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30645260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 412
(D412G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031806
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031806]
|
AlphaFold |
Q7TPZ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031806
AA Change: D412G
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031806 Gene: ENSMUSG00000054446 AA Change: D412G
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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
Cyp2c68 |
G |
A |
19: 39,700,903 (GRCm39) |
T305M |
probably damaging |
Het |
Elp4 |
T |
C |
2: 105,672,656 (GRCm39) |
D143G |
probably benign |
Het |
Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,631,232 (GRCm39) |
V245A |
probably benign |
Het |
Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
Klk1b22 |
A |
T |
7: 43,766,283 (GRCm39) |
M255L |
probably benign |
Het |
Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
Slc19a2 |
A |
T |
1: 164,091,025 (GRCm39) |
I278F |
possibly damaging |
Het |
Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
Wdr43 |
A |
G |
17: 71,923,382 (GRCm39) |
T43A |
probably benign |
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 |
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 |
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'- TGGGAGCACTATTGACTGGACCTAC -3'
(R):5'- CCTCTTAGATGCAGCTTCATGGGAC -3'
Sequencing Primer
(F):5'- TACAGCCAGGGCATCAAGTATTC -3'
(R):5'- tggaatgcaggagaatttaggg -3'
|
Posted On |
2014-01-05 |