Incidental Mutation 'R8436:Cpb2'
| ID |
654015 |
| 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 |
067777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75479727-75520995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 75510015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 258
(F258L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022576]
|
| AlphaFold |
Q9JHH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022576
AA Change: F258L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: F258L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,936 (GRCm39) |
I1278V |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,266,821 (GRCm39) |
H1210R |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,296,070 (GRCm39) |
S128L |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,800,398 (GRCm39) |
N1603K |
unknown |
Het |
| Cfap99 |
A |
G |
5: 34,469,026 (GRCm39) |
N300S |
possibly damaging |
Het |
| Chrdl2 |
G |
A |
7: 99,676,940 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,868,218 (GRCm39) |
D767E |
probably damaging |
Het |
| Dennd3 |
C |
T |
15: 73,434,198 (GRCm39) |
T956I |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,129,228 (GRCm39) |
T245A |
possibly damaging |
Het |
| Gm4353 |
A |
G |
7: 115,682,864 (GRCm39) |
V239A |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 40,692,810 (GRCm39) |
A260T |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,446,421 (GRCm39) |
D205G |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,481,210 (GRCm39) |
S3005G |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,479,553 (GRCm39) |
L148P |
probably damaging |
Het |
| Irf2 |
C |
T |
8: 47,271,929 (GRCm39) |
T172M |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,970 (GRCm39) |
H82R |
possibly damaging |
Het |
| Kcnc4 |
G |
T |
3: 107,366,084 (GRCm39) |
N41K |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,682,870 (GRCm39) |
A490V |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,349,649 (GRCm39) |
E946K |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,452,200 (GRCm39) |
Y359N |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,349,709 (GRCm39) |
S1365G |
probably damaging |
Het |
| P3h3 |
C |
A |
6: 124,828,041 (GRCm39) |
|
probably null |
Het |
| Pdk2 |
A |
T |
11: 94,930,259 (GRCm39) |
V59D |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,683,613 (GRCm39) |
K168R |
probably benign |
Het |
| Prg4 |
G |
T |
1: 150,331,318 (GRCm39) |
P452T |
unknown |
Het |
| Prl2b1 |
T |
C |
13: 27,567,442 (GRCm39) |
N234S |
possibly damaging |
Het |
| Rnd1 |
T |
A |
15: 98,574,455 (GRCm39) |
T41S |
possibly damaging |
Het |
| Sall4 |
G |
A |
2: 168,597,830 (GRCm39) |
P337S |
probably damaging |
Het |
| Slc1a2 |
G |
A |
2: 102,586,298 (GRCm39) |
A301T |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,044,053 (GRCm39) |
T3531I |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,004,761 (GRCm39) |
D894G |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,178,659 (GRCm39) |
N4605S |
probably benign |
Het |
| Syt4 |
A |
C |
18: 31,573,472 (GRCm39) |
C348G |
possibly damaging |
Het |
| Tceanc2 |
G |
A |
4: 107,034,778 (GRCm39) |
T28M |
probably damaging |
Het |
| Tmco1 |
A |
G |
1: 167,136,254 (GRCm39) |
D5G |
|
Het |
| Tnfsf12 |
T |
C |
11: 69,577,713 (GRCm39) |
K235E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,450 (GRCm39) |
S2396P |
possibly damaging |
Het |
| Vipas39 |
T |
A |
12: 87,304,191 (GRCm39) |
D125V |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,771 (GRCm39) |
F35S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,649 (GRCm39) |
N619D |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,718,157 (GRCm39) |
V521A |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,273,035 (GRCm39) |
L166Q |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,821,022 (GRCm39) |
C706* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zscan21 |
A |
T |
5: 138,116,178 (GRCm39) |
Y30F |
unknown |
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 |
|
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 |
|
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'- GAGTATGACCGGGATCTGGCT -3'
(R):5'- GAGACCTTTAAACCCTGTTCCT -3'
Sequencing Primer
(F):5'- CTGGAGATGGGGACTGTGAC -3'
(R):5'- AACCATGTGCAATCGATGGTTGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation