Incidental Mutation 'IGL01521:Cpb2'
| ID |
90517 |
| 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: 0.099)
|
| Stock # |
IGL01521
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75479727-75520995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75495071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 67
(V67D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022576]
|
| AlphaFold |
Q9JHH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022576
AA Change: V67D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: V67D
| 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
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,770,419 (GRCm39) |
I406F |
possibly damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,886,085 (GRCm39) |
E75G |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,136,215 (GRCm39) |
Y467H |
probably damaging |
Het |
| Arap1 |
G |
T |
7: 101,049,812 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
G |
A |
2: 180,613,371 (GRCm39) |
C22Y |
probably damaging |
Het |
| Artn |
G |
A |
4: 117,784,484 (GRCm39) |
P25S |
probably damaging |
Het |
| Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
| Clpx |
T |
C |
9: 65,226,026 (GRCm39) |
V367A |
probably damaging |
Het |
| Clstn3 |
C |
T |
6: 124,434,990 (GRCm39) |
W308* |
probably null |
Het |
| Cyp2c38 |
A |
G |
19: 39,449,114 (GRCm39) |
Y80H |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,327,032 (GRCm39) |
D127G |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,771,059 (GRCm39) |
E961D |
probably benign |
Het |
| Fhod1 |
G |
A |
8: 106,057,055 (GRCm39) |
A973V |
probably benign |
Het |
| Flacc1 |
T |
G |
1: 58,709,553 (GRCm39) |
K201Q |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,328,927 (GRCm39) |
*1713C |
probably null |
Het |
| Gemin5 |
A |
T |
11: 58,025,744 (GRCm39) |
|
probably benign |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,827,182 (GRCm39) |
T890S |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,836,618 (GRCm39) |
S52T |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,763,083 (GRCm39) |
D53E |
probably damaging |
Het |
| Lrrc14b |
G |
A |
13: 74,511,691 (GRCm39) |
R130C |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,704 (GRCm39) |
I1046K |
probably damaging |
Het |
| Napsa |
A |
T |
7: 44,236,061 (GRCm39) |
I367F |
probably damaging |
Het |
| Or5aq1b |
C |
T |
2: 86,902,077 (GRCm39) |
V134I |
probably benign |
Het |
| Or8b56 |
A |
T |
9: 38,739,185 (GRCm39) |
Y66F |
probably damaging |
Het |
| Rgcc |
T |
G |
14: 79,538,185 (GRCm39) |
S69R |
probably damaging |
Het |
| Rin3 |
T |
A |
12: 102,335,307 (GRCm39) |
I326N |
probably benign |
Het |
| Sipa1 |
C |
A |
19: 5,711,006 (GRCm39) |
M1I |
probably null |
Het |
| Sirpb1a |
T |
A |
3: 15,475,561 (GRCm39) |
M325L |
probably benign |
Het |
| Sult1a1 |
C |
A |
7: 126,274,451 (GRCm39) |
V71F |
possibly damaging |
Het |
| Tgds |
G |
T |
14: 118,350,506 (GRCm39) |
P349Q |
probably damaging |
Het |
| Tmem63c |
T |
A |
12: 87,115,918 (GRCm39) |
H186Q |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,924,016 (GRCm39) |
L242S |
probably damaging |
Het |
| Trip12 |
T |
A |
1: 84,743,919 (GRCm39) |
|
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,816,412 (GRCm39) |
|
probably null |
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 |
|
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 |
|
IGL02961:Cpb2
|
APN |
14 |
75,502,823 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-12-09 |
Incidental Mutation