Incidental Mutation 'IGL01069:Cpb2'
ID 52651
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) question?
Stock # IGL01069
Quality Score
Status
Chromosome 14
Chromosomal Location 75479727-75520995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75508215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 225 (D225E)
Ref Sequence ENSEMBL: ENSMUSP00000022576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022576]
AlphaFold Q9JHH6
Predicted Effect probably damaging
Transcript: ENSMUST00000022576
AA Change: D225E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: D225E

DomainStartEndE-ValueType
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: ENSMUST00000227817
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Cpb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-06-21