Incidental Mutation 'R0029:Cpa4'
| ID |
15635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa4
|
| Ensembl Gene |
ENSMUSG00000039070 |
| Gene Name |
carboxypeptidase A4 |
| Synonyms |
1110019K20Rik |
| MMRRC Submission |
038323-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0029 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30568368-30592417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30585044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 276
(Y276C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049251]
|
| AlphaFold |
Q6P8K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049251
AA Change: Y276C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048558
Gene: ENSMUSG00000039070
AA Change: Y276C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Propep_M14
|
27 |
101 |
2.5e-20 |
PFAM |
|
Zn_pept
|
122 |
403 |
2.3e-140 |
SMART |
|
| Meta Mutation Damage Score |
0.9595 |
| Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.9%
- 10x: 44.2%
- 20x: 23.9%
|
| Validation Efficiency |
94% (58/62) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases that could be involved in the histone hyperacetylation pathway. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
| Cpt1a |
A |
G |
19: 3,431,674 (GRCm39) |
D698G |
probably benign |
Het |
| Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
| Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
| Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,171,357 (GRCm39) |
|
probably benign |
Het |
| Nell1 |
G |
A |
7: 49,770,463 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
A |
1: 91,351,434 (GRCm39) |
R1024L |
possibly damaging |
Het |
| Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
| Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
| Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
|
| Other mutations in Cpa4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01404:Cpa4
|
APN |
6 |
30,581,701 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01621:Cpa4
|
APN |
6 |
30,574,415 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01712:Cpa4
|
APN |
6 |
30,590,815 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01970:Cpa4
|
APN |
6 |
30,579,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02751:Cpa4
|
APN |
6 |
30,581,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Cpa4
|
UTSW |
6 |
30,585,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Cpa4
|
UTSW |
6 |
30,579,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Cpa4
|
UTSW |
6 |
30,580,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Cpa4
|
UTSW |
6 |
30,583,649 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3849:Cpa4
|
UTSW |
6 |
30,590,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Cpa4
|
UTSW |
6 |
30,590,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4920:Cpa4
|
UTSW |
6 |
30,568,462 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6144:Cpa4
|
UTSW |
6 |
30,585,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6892:Cpa4
|
UTSW |
6 |
30,583,628 (GRCm39) |
missense |
probably benign |
|
|
R7567:Cpa4
|
UTSW |
6 |
30,573,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7763:Cpa4
|
UTSW |
6 |
30,583,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8033:Cpa4
|
UTSW |
6 |
30,590,799 (GRCm39) |
missense |
probably benign |
|
|
R8679:Cpa4
|
UTSW |
6 |
30,585,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Cpa4
|
UTSW |
6 |
30,574,393 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9566:Cpa4
|
UTSW |
6 |
30,579,608 (GRCm39) |
missense |
probably benign |
|
|
X0061:Cpa4
|
UTSW |
6 |
30,590,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cpa4
|
UTSW |
6 |
30,574,402 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2012-12-21 |
Incidental Mutation