Incidental Mutation 'R2761:Cpa2'
| ID |
254040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa2
|
| Ensembl Gene |
ENSMUSG00000071553 |
| Gene Name |
carboxypeptidase A2, pancreatic |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
30541641-30564475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30554193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 271
(D271G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096066]
|
| AlphaFold |
Q504N0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096066
AA Change: D271G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093771
Gene: ENSMUSG00000071553
AA Change: D271G
| 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: ENSMUST00000126426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146936
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,541 (GRCm39) |
V910A |
probably damaging |
Het |
| 1700123K08Rik |
T |
C |
5: 138,562,436 (GRCm39) |
T102A |
possibly damaging |
Het |
| Acoxl |
T |
C |
2: 127,719,733 (GRCm39) |
Y165H |
probably benign |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,380,481 (GRCm39) |
I208N |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,000 (GRCm39) |
I477V |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,355,369 (GRCm39) |
M109V |
probably benign |
Het |
| Hdac3 |
A |
T |
18: 38,078,779 (GRCm39) |
S111T |
probably benign |
Het |
| Kremen1 |
GGG |
GGGTGG |
11: 5,151,792 (GRCm39) |
|
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,938,691 (GRCm39) |
T301A |
probably benign |
Het |
| Rad21 |
T |
A |
15: 51,846,039 (GRCm39) |
K10N |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,328,885 (GRCm39) |
D139G |
probably benign |
Het |
| Tango6 |
C |
A |
8: 107,425,664 (GRCm39) |
T408N |
possibly 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 |
|
IGL01832:Cpa2
|
APN |
6 |
30,551,998 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAACTAACATCCACCCTGC -3'
(R):5'- TCACCAGCTCATTAAAGTCATCTG -3'
Sequencing Primer
(F):5'- ACTCACTTTGTAGATTAGGCAGGCC -3'
(R):5'- AAAGTCATCTGGCTTGGCAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation