Incidental Mutation 'IGL01832:Cpa2'
ID |
154817 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpa2
|
Ensembl Gene |
ENSMUSG00000071553 |
Gene Name |
carboxypeptidase A2, pancreatic |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01832
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
30541641-30564475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30551998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 242
(S242P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096066]
|
AlphaFold |
Q504N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096066
AA Change: S242P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093771 Gene: ENSMUSG00000071553 AA Change: S242P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Propep_M14
|
26 |
100 |
3.5e-25 |
PFAM |
Zn_pept
|
121 |
400 |
3.4e-143 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123588
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131137
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146936
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed by the pancreatic exocrine cells which secrete the enzyme during digestion. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
G |
A |
8: 77,985,758 (GRCm39) |
T681I |
probably benign |
Het |
Atg4b |
T |
C |
1: 93,713,626 (GRCm39) |
|
probably benign |
Het |
Atp10b |
T |
A |
11: 43,125,262 (GRCm39) |
M1076K |
probably damaging |
Het |
Atp23 |
A |
T |
10: 126,730,214 (GRCm39) |
N111K |
probably damaging |
Het |
Atxn2 |
C |
A |
5: 121,944,331 (GRCm39) |
Y72* |
probably null |
Het |
C1qtnf12 |
A |
G |
4: 156,050,323 (GRCm39) |
D220G |
probably damaging |
Het |
C2cd3 |
A |
T |
7: 100,076,421 (GRCm39) |
T1171S |
possibly damaging |
Het |
Ccdc15 |
G |
A |
9: 37,222,640 (GRCm39) |
R585W |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,460,414 (GRCm39) |
Y179* |
probably null |
Het |
Ctps2 |
G |
T |
X: 161,719,699 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
A |
G |
3: 104,918,544 (GRCm39) |
S99P |
probably damaging |
Het |
Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,293,725 (GRCm39) |
K722R |
possibly damaging |
Het |
Ercc8 |
A |
G |
13: 108,305,993 (GRCm39) |
T123A |
probably damaging |
Het |
Ermard |
T |
C |
17: 15,280,111 (GRCm39) |
V87A |
probably damaging |
Het |
Fkbp8 |
A |
G |
8: 70,984,195 (GRCm39) |
H182R |
probably benign |
Het |
Gab2 |
T |
C |
7: 96,953,445 (GRCm39) |
L606P |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,568 (GRCm39) |
|
probably null |
Het |
Hook3 |
A |
T |
8: 26,562,393 (GRCm39) |
M224K |
possibly damaging |
Het |
Itga5 |
T |
A |
15: 103,264,376 (GRCm39) |
K298* |
probably null |
Het |
Itprid2 |
G |
A |
2: 79,481,762 (GRCm39) |
V481M |
possibly damaging |
Het |
Lrrc74a |
C |
A |
12: 86,808,488 (GRCm39) |
T422K |
probably benign |
Het |
Myh9 |
A |
C |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
Ndrg4 |
A |
G |
8: 96,439,947 (GRCm39) |
E349G |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,820,513 (GRCm39) |
D19E |
probably benign |
Het |
Otop2 |
T |
C |
11: 115,217,769 (GRCm39) |
S202P |
probably benign |
Het |
Plppr2 |
C |
A |
9: 21,854,742 (GRCm39) |
R138S |
possibly damaging |
Het |
Prkaca |
A |
C |
8: 84,717,366 (GRCm39) |
K206N |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,370,666 (GRCm39) |
T589I |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,401,700 (GRCm39) |
|
probably null |
Het |
Slc16a5 |
T |
C |
11: 115,355,827 (GRCm39) |
V96A |
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,707,620 (GRCm39) |
K1047E |
probably damaging |
Het |
Tinag |
T |
C |
9: 76,939,038 (GRCm39) |
K147E |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,325 (GRCm39) |
T338A |
probably damaging |
Het |
Wdr74 |
C |
T |
19: 8,717,302 (GRCm39) |
R299C |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,765,892 (GRCm39) |
S1473L |
probably damaging |
Het |
|
Other mutations in Cpa2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00821:Cpa2
|
APN |
6 |
30,564,411 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02233:Cpa2
|
APN |
6 |
30,557,666 (GRCm39) |
splice site |
probably benign |
|
IGL02534:Cpa2
|
APN |
6 |
30,550,767 (GRCm39) |
missense |
probably benign |
0.20 |
IGL03057:Cpa2
|
APN |
6 |
30,557,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R0931:Cpa2
|
UTSW |
6 |
30,552,070 (GRCm39) |
splice site |
probably benign |
|
R1442:Cpa2
|
UTSW |
6 |
30,544,865 (GRCm39) |
splice site |
probably null |
|
R1664:Cpa2
|
UTSW |
6 |
30,554,314 (GRCm39) |
missense |
probably damaging |
0.98 |
R1752:Cpa2
|
UTSW |
6 |
30,552,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R2761:Cpa2
|
UTSW |
6 |
30,554,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R4535:Cpa2
|
UTSW |
6 |
30,552,020 (GRCm39) |
missense |
probably benign |
0.19 |
R4913:Cpa2
|
UTSW |
6 |
30,554,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R5256:Cpa2
|
UTSW |
6 |
30,547,196 (GRCm39) |
missense |
probably damaging |
0.96 |
R5461:Cpa2
|
UTSW |
6 |
30,544,180 (GRCm39) |
missense |
probably benign |
0.03 |
R5630:Cpa2
|
UTSW |
6 |
30,550,731 (GRCm39) |
splice site |
probably null |
|
R6629:Cpa2
|
UTSW |
6 |
30,554,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R7368:Cpa2
|
UTSW |
6 |
30,551,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R8140:Cpa2
|
UTSW |
6 |
30,544,904 (GRCm39) |
missense |
probably benign |
0.10 |
R8163:Cpa2
|
UTSW |
6 |
30,564,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R8165:Cpa2
|
UTSW |
6 |
30,564,345 (GRCm39) |
missense |
probably benign |
0.00 |
R8877:Cpa2
|
UTSW |
6 |
30,541,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9780:Cpa2
|
UTSW |
6 |
30,545,536 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-02-04 |