Incidental Mutation 'R2372:Cpb2'
| ID |
248179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpb2
|
| Ensembl Gene |
ENSMUSG00000021999 |
| Gene Name |
carboxypeptidase B2 |
| Synonyms |
CPU, CPR, carboxypeptidase U, 1110032P04Rik, TAFI, 4930405E17Rik, thrombin-activatable fibrinolysis inhibitor, carboxypeptidase R |
| MMRRC Submission |
040352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R2372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75479727-75520995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75505490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 162
(V162G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022576]
|
| AlphaFold |
Q9JHH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022576
AA Change: V162G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: V162G
| 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: ENSMUST00000226248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227817
|
| Meta Mutation Damage Score |
0.5661 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
| Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
| Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
| N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
| Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
| Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
| Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
| Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
| Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,819,133 (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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGTGCCTATGATGAGC -3'
(R):5'- GGGATTCTGACTCCAGTGATC -3'
Sequencing Primer
(F):5'- AACAGTCTGGCTTCAATATCACTC -3'
(R):5'- GACTCCAGTGATCTTGGATCCCAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation