Incidental Mutation 'IGL00925:Cpb2'
ID28946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpb2
Ensembl Gene ENSMUSG00000021999
Gene Namecarboxypeptidase B2 (plasma)
Synonymscarboxypeptidase U, TAFI, carboxypeptidase R, CPR, CPU, 1110032P04Rik, thrombin-activatable fibrinolysis inhibitor, 4930405E17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL00925
Quality Score
Status
Chromosome14
Chromosomal Location75242287-75283555 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75260750 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 118 (Y118H)
Ref Sequence ENSEMBL: ENSMUSP00000022576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022576]
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T A 6: 48,931,040 Y325N probably damaging Het
Atoh8 A G 6: 72,234,569 V199A probably benign Het
Celf2 A T 2: 6,721,577 D6E probably benign Het
Cep170 T C 1: 176,793,524 D29G probably damaging Het
Esf1 A G 2: 140,167,817 S200P probably benign Het
Glmn A T 5: 107,557,327 N474K probably damaging Het
Maea T C 5: 33,372,301 V377A probably benign Het
Npepps A G 11: 97,280,283 V59A probably damaging Het
Ocrl A G X: 47,947,097 E565G probably benign Het
Olfr1043 T C 2: 86,162,920 T10A probably benign Het
Pclo T C 5: 14,766,741 S4544P unknown Het
Per3 T C 4: 151,013,598 Y693C probably benign Het
Prkacb G T 3: 146,748,042 P167H probably benign Het
Ptprt A G 2: 161,656,163 S837P possibly damaging Het
Sema7a G T 9: 57,955,838 C264F probably damaging Het
Slitrk4 G T X: 64,272,051 P337T probably damaging Het
Tango6 T G 8: 106,695,445 probably benign Het
Tecta T C 9: 42,375,035 D775G probably benign Het
Tmem45a2 T A 16: 57,045,255 N189Y probably damaging Het
Ttc8 A G 12: 98,976,018 N364S probably damaging Het
Uhrf1 A G 17: 56,320,535 D697G probably benign Het
Vmn1r185 G A 7: 26,611,190 L297F probably benign Het
Vmn2r11 T C 5: 109,047,019 T814A probably benign Het
Wdr36 A G 18: 32,845,631 T198A possibly damaging Het
Zfhx2 G A 14: 55,073,061 P676L probably benign Het
Zfp451 A G 1: 33,776,261 probably benign Het
Other mutations in Cpb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Cpb2 APN 14 75275093 missense possibly damaging 0.64
IGL01069:Cpb2 APN 14 75270775 missense probably damaging 1.00
IGL01521:Cpb2 APN 14 75257631 missense probably damaging 1.00
IGL02331:Cpb2 APN 14 75283404 missense possibly damaging 0.93
IGL02947:Cpb2 APN 14 75283318 missense probably damaging 1.00
IGL02961:Cpb2 APN 14 75265383 missense probably benign
PIT4677001:Cpb2 UTSW 14 75256023 missense probably benign
R0271:Cpb2 UTSW 14 75257709 splice site probably null
R0277:Cpb2 UTSW 14 75265458 missense probably damaging 1.00
R0372:Cpb2 UTSW 14 75242377 missense probably benign 0.01
R1893:Cpb2 UTSW 14 75255963 missense probably benign 0.44
R1926:Cpb2 UTSW 14 75242397 missense probably benign 0.07
R2372:Cpb2 UTSW 14 75268050 missense probably damaging 0.97
R2923:Cpb2 UTSW 14 75256033 critical splice donor site probably null
R3714:Cpb2 UTSW 14 75283217 splice site probably null
R5958:Cpb2 UTSW 14 75283387 missense probably damaging 1.00
R5987:Cpb2 UTSW 14 75260688 missense probably damaging 1.00
R6354:Cpb2 UTSW 14 75257705 critical splice donor site probably null
R6495:Cpb2 UTSW 14 75275079 missense probably damaging 1.00
R6984:Cpb2 UTSW 14 75265458 missense possibly damaging 0.78
R7211:Cpb2 UTSW 14 75274990 missense probably damaging 1.00
R7380:Cpb2 UTSW 14 75256009 missense possibly damaging 0.77
R7444:Cpb2 UTSW 14 75283342 missense probably damaging 0.99
R7625:Cpb2 UTSW 14 75272549 missense possibly damaging 0.89
R7784:Cpb2 UTSW 14 75275040 missense probably damaging 1.00
Posted On2013-04-17