Incidental Mutation 'IGL00925:Cpb2'
| ID |
28946 |
| 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 # |
IGL00925
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75479727-75520995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75498190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 118
(Y118H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022576]
|
| AlphaFold |
Q9JHH6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022576
AA Change: Y118H
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: Y118H
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
T |
A |
6: 48,907,974 (GRCm39) |
Y325N |
probably damaging |
Het |
| Atoh8 |
A |
G |
6: 72,211,553 (GRCm39) |
V199A |
probably benign |
Het |
| Celf2 |
A |
T |
2: 6,726,388 (GRCm39) |
D6E |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,621,090 (GRCm39) |
D29G |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,009,737 (GRCm39) |
S200P |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,705,193 (GRCm39) |
N474K |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,645 (GRCm39) |
V377A |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,171,109 (GRCm39) |
V59A |
probably damaging |
Het |
| Ocrl |
A |
G |
X: 47,035,974 (GRCm39) |
E565G |
probably benign |
Het |
| Or5al7 |
T |
C |
2: 85,993,264 (GRCm39) |
T10A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,816,755 (GRCm39) |
S4544P |
unknown |
Het |
| Per3 |
T |
C |
4: 151,098,055 (GRCm39) |
Y693C |
probably benign |
Het |
| Prkacb |
G |
T |
3: 146,453,797 (GRCm39) |
P167H |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,498,083 (GRCm39) |
S837P |
possibly damaging |
Het |
| Sema7a |
G |
T |
9: 57,863,121 (GRCm39) |
C264F |
probably damaging |
Het |
| Slitrk4 |
G |
T |
X: 63,315,657 (GRCm39) |
P337T |
probably damaging |
Het |
| Tango6 |
T |
G |
8: 107,422,077 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,286,331 (GRCm39) |
D775G |
probably benign |
Het |
| Tmem45a2 |
T |
A |
16: 56,865,618 (GRCm39) |
N189Y |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,942,277 (GRCm39) |
N364S |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,627,535 (GRCm39) |
D697G |
probably benign |
Het |
| Vmn1r185 |
G |
A |
7: 26,310,615 (GRCm39) |
L297F |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,194,885 (GRCm39) |
T814A |
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,978,684 (GRCm39) |
T198A |
possibly damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,310,518 (GRCm39) |
P676L |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,815,342 (GRCm39) |
|
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 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation