Incidental Mutation 'IGL02961:Cpb2'
| ID |
365339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpb2
|
| Ensembl Gene |
ENSMUSG00000021999 |
| Gene Name |
carboxypeptidase B2 |
| Synonyms |
CPU, CPR, carboxypeptidase U, 1110032P04Rik, TAFI, 4930405E17Rik, thrombin-activatable fibrinolysis inhibitor, carboxypeptidase R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02961
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75479727-75520995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75502823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 134
(V134A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022576]
|
| AlphaFold |
Q9JHH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022576
AA Change: V134A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: V134A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Propep_M14
|
28 |
104 |
2.3e-17 |
PFAM |
|
Zn_pept
|
122 |
406 |
2.1e-134 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226248
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes carboxypeptidase B, 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, and secreted into plasma. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice exhibit altered plasma clot lysis and may show reduced bleomycin-induced lung fibrosis, impaired healing of cutaneous wounds and colonic anastomoses, altered glomerular structure, or complement-mediated lethal inflammation after LPS sensitization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,671,731 (GRCm39) |
V2288A |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 110,437,318 (GRCm39) |
N76K |
probably damaging |
Het |
| AI182371 |
A |
T |
2: 34,976,124 (GRCm39) |
V258E |
possibly damaging |
Het |
| Alg1 |
T |
A |
16: 5,052,861 (GRCm39) |
N80K |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,793 (GRCm39) |
M963V |
possibly damaging |
Het |
| Avil |
C |
A |
10: 126,844,175 (GRCm39) |
Q245K |
probably benign |
Het |
| Caml |
A |
G |
13: 55,779,695 (GRCm39) |
N256S |
probably benign |
Het |
| Ccdc102a |
A |
C |
8: 95,629,978 (GRCm39) |
I521S |
possibly damaging |
Het |
| Ccm2l |
A |
G |
2: 152,920,521 (GRCm39) |
T393A |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,341,837 (GRCm39) |
V91A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,751,542 (GRCm39) |
D13G |
probably damaging |
Het |
| Chsy1 |
T |
A |
7: 65,821,530 (GRCm39) |
D588E |
probably benign |
Het |
| Cilp |
T |
A |
9: 65,185,891 (GRCm39) |
V662E |
possibly damaging |
Het |
| Cog8 |
A |
G |
8: 107,782,885 (GRCm39) |
|
probably benign |
Het |
| Ctcfl |
T |
A |
2: 172,943,712 (GRCm39) |
H546L |
possibly damaging |
Het |
| Dclre1c |
A |
G |
2: 3,438,070 (GRCm39) |
D136G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,409,240 (GRCm39) |
E379D |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,294,408 (GRCm39) |
Y808H |
possibly damaging |
Het |
| Gm7247 |
T |
A |
14: 51,602,812 (GRCm39) |
N49K |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,308,785 (GRCm39) |
I84V |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,646,223 (GRCm39) |
P541S |
probably benign |
Het |
| Kcnc3 |
T |
C |
7: 44,240,916 (GRCm39) |
S203P |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,122,402 (GRCm39) |
D1732G |
probably benign |
Het |
| Or10q3 |
T |
A |
19: 11,847,695 (GRCm39) |
N295I |
probably damaging |
Het |
| Or52d1 |
C |
A |
7: 103,756,357 (GRCm39) |
Y290* |
probably null |
Het |
| Or5p68 |
T |
C |
7: 107,945,334 (GRCm39) |
I285V |
probably benign |
Het |
| Or5w22 |
A |
G |
2: 87,363,028 (GRCm39) |
Y217C |
probably damaging |
Het |
| Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,405,426 (GRCm39) |
L426* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,797,089 (GRCm39) |
D8E |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,517,108 (GRCm39) |
Y714* |
probably null |
Het |
| Pramel16 |
T |
C |
4: 143,675,717 (GRCm39) |
T370A |
probably damaging |
Het |
| Prb1c |
A |
T |
6: 132,338,371 (GRCm39) |
F282L |
unknown |
Het |
| Rasgrf1 |
T |
C |
9: 89,863,702 (GRCm39) |
V556A |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,703,941 (GRCm39) |
Y1996H |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,071,697 (GRCm39) |
L1248P |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,416,332 (GRCm39) |
L53P |
probably damaging |
Het |
| Slc22a27 |
T |
C |
19: 7,903,886 (GRCm39) |
R84G |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,097,392 (GRCm39) |
L1302P |
probably damaging |
Het |
| Srm |
T |
C |
4: 148,678,586 (GRCm39) |
V271A |
possibly damaging |
Het |
| Sycp2 |
A |
G |
2: 178,022,655 (GRCm39) |
I492T |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,301 (GRCm39) |
T472A |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,013,484 (GRCm39) |
D245G |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,967,075 (GRCm39) |
I274L |
probably benign |
Het |
| Vmn1r21 |
T |
C |
6: 57,820,974 (GRCm39) |
M157V |
probably benign |
Het |
| Wdr90 |
C |
A |
17: 26,067,649 (GRCm39) |
E1420* |
probably null |
Het |
| Zfp518a |
A |
T |
19: 40,903,462 (GRCm39) |
R1130S |
probably benign |
Het |
|
| Other mutations in Cpb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00687:Cpb2
|
APN |
14 |
75,512,533 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00925:Cpb2
|
APN |
14 |
75,498,190 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01069:Cpb2
|
APN |
14 |
75,508,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01521:Cpb2
|
APN |
14 |
75,495,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Cpb2
|
APN |
14 |
75,520,844 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02947:Cpb2
|
APN |
14 |
75,520,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Cpb2
|
UTSW |
14 |
75,493,463 (GRCm39) |
missense |
probably benign |
|
|
R0271:Cpb2
|
UTSW |
14 |
75,495,149 (GRCm39) |
splice site |
probably null |
|
|
R0277:Cpb2
|
UTSW |
14 |
75,502,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Cpb2
|
UTSW |
14 |
75,479,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1893:Cpb2
|
UTSW |
14 |
75,493,403 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1926:Cpb2
|
UTSW |
14 |
75,479,837 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2372:Cpb2
|
UTSW |
14 |
75,505,490 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2923:Cpb2
|
UTSW |
14 |
75,493,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3714:Cpb2
|
UTSW |
14 |
75,520,657 (GRCm39) |
splice site |
probably null |
|
|
R5958:Cpb2
|
UTSW |
14 |
75,520,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Cpb2
|
UTSW |
14 |
75,498,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Cpb2
|
UTSW |
14 |
75,495,145 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6495:Cpb2
|
UTSW |
14 |
75,512,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Cpb2
|
UTSW |
14 |
75,502,898 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7211:Cpb2
|
UTSW |
14 |
75,512,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Cpb2
|
UTSW |
14 |
75,493,449 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7444:Cpb2
|
UTSW |
14 |
75,520,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7625:Cpb2
|
UTSW |
14 |
75,509,989 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7784:Cpb2
|
UTSW |
14 |
75,512,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Cpb2
|
UTSW |
14 |
75,510,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Cpb2
|
UTSW |
14 |
75,515,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Cpb2
|
UTSW |
14 |
75,479,868 (GRCm39) |
splice site |
probably benign |
|
|
R9272:Cpb2
|
UTSW |
14 |
75,520,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9391:Cpb2
|
UTSW |
14 |
75,508,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9409:Cpb2
|
UTSW |
14 |
75,505,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-12-18 |
Incidental Mutation