Incidental Mutation 'R6629:Cpa2'
| ID |
524982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa2
|
| Ensembl Gene |
ENSMUSG00000071553 |
| Gene Name |
carboxypeptidase A2, pancreatic |
| Synonyms |
|
| MMRRC Submission |
044751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6629 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30541641-30564475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30554193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 271
(D271V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096066]
|
| AlphaFold |
Q504N0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096066
AA Change: D271V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093771
Gene: ENSMUSG00000071553
AA Change: D271V
| 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
|
| Meta Mutation Damage Score |
0.5566 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
97% (38/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,903,665 (GRCm39) |
M180K |
probably benign |
Het |
| Bnip2 |
G |
T |
9: 69,909,393 (GRCm39) |
R236L |
probably null |
Het |
| Boc |
T |
C |
16: 44,312,724 (GRCm39) |
D582G |
probably benign |
Het |
| Cacul1 |
T |
C |
19: 60,568,805 (GRCm39) |
S118G |
probably benign |
Het |
| Ccdc192 |
T |
C |
18: 57,863,852 (GRCm39) |
S219P |
possibly damaging |
Het |
| Cubn |
G |
A |
2: 13,435,683 (GRCm39) |
T1091M |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,465 (GRCm39) |
T846A |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,510,042 (GRCm39) |
A329S |
probably damaging |
Het |
| Fam136b-ps |
G |
A |
15: 31,276,962 (GRCm39) |
|
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,330,168 (GRCm39) |
V284A |
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,844,991 (GRCm39) |
S31P |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,592,938 (GRCm39) |
L701P |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,889,507 (GRCm39) |
T241I |
probably benign |
Het |
| Kif5a |
A |
G |
10: 127,084,123 (GRCm39) |
V52A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,697,722 (GRCm39) |
Y11* |
probably null |
Het |
| Meltf |
A |
G |
16: 31,703,894 (GRCm39) |
Y207C |
probably damaging |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,504 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,507,367 (GRCm39) |
|
probably null |
Het |
| Notch2 |
C |
A |
3: 98,028,197 (GRCm39) |
N969K |
possibly damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,506 (GRCm39) |
M117L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,617,851 (GRCm39) |
G135R |
probably benign |
Het |
| Pla2g4f |
A |
T |
2: 120,138,723 (GRCm39) |
L242Q |
probably damaging |
Het |
| Plcxd2 |
T |
G |
16: 45,785,470 (GRCm39) |
T312P |
probably damaging |
Het |
| Prpf4 |
G |
A |
4: 62,336,097 (GRCm39) |
V275I |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,386,252 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
C |
5: 115,692,121 (GRCm39) |
L401P |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,354,754 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
C |
A |
10: 51,601,586 (GRCm39) |
T669K |
probably benign |
Het |
| Rgs16 |
A |
G |
1: 153,619,420 (GRCm39) |
N142S |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,146 (GRCm39) |
E237G |
possibly damaging |
Het |
| Rsbn1 |
A |
C |
3: 103,835,757 (GRCm39) |
D265A |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,171,526 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
C |
A |
11: 102,252,048 (GRCm39) |
E19* |
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,380,731 (GRCm39) |
S526P |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,706,343 (GRCm39) |
H371L |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,499 (GRCm39) |
F80I |
probably benign |
Het |
| Wdr75 |
G |
A |
1: 45,851,216 (GRCm39) |
S264N |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,654,616 (GRCm39) |
N340Y |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,016,190 (GRCm39) |
T306A |
probably benign |
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 |
|
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 |
|
|
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'- TGGTAACTAACATCCACCCTG -3'
(R):5'- AATGTGGGAACTCACCAGC -3'
Sequencing Primer
(F):5'- ACTCACTTTGTAGATTAGGCAGGCC -3'
(R):5'- CAGCTCATTAAAGTCATCTGGCTTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation