Incidental Mutation 'R7784:Cpb2'
ID 599469
Institutional Source Beutler Lab
Gene Symbol Cpb2
Ensembl Gene ENSMUSG00000021999
Gene Name carboxypeptidase B2 (plasma)
Synonyms carboxypeptidase U, TAFI, carboxypeptidase R, CPR, CPU, 1110032P04Rik, thrombin-activatable fibrinolysis inhibitor, 4930405E17Rik
MMRRC Submission 045840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R7784 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 75242287-75283555 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75275040 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 298 (N298Y)
Ref Sequence ENSEMBL: ENSMUSP00000022576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022576]
AlphaFold Q9JHH6
Predicted Effect probably damaging
Transcript: ENSMUST00000022576
AA Change: N298Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: N298Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,828 (GRCm38) probably null Het
3425401B19Rik A T 14: 32,659,840 (GRCm38) S1389R probably benign Het
Abca9 A T 11: 110,154,417 (GRCm38) C363* probably null Het
Actbl2 T A 13: 111,255,411 (GRCm38) N93K probably damaging Het
Adamtsl3 T C 7: 82,573,989 (GRCm38) Y993H probably damaging Het
Adgrg1 G A 8: 95,012,882 (GRCm38) W653* probably null Het
Akap13 T A 7: 75,610,328 (GRCm38) V97D probably benign Het
C130026I21Rik T A 1: 85,212,474 (GRCm38) probably null Het
Cacna1d T A 14: 30,123,439 (GRCm38) D613V probably damaging Het
Col10a1 C A 10: 34,394,218 (GRCm38) P62H unknown Het
Ddc A G 11: 11,839,396 (GRCm38) probably null Het
Ddx6 T C 9: 44,630,142 (GRCm38) probably null Het
Epb42 T G 2: 121,034,435 (GRCm38) K58N probably benign Het
Eps8 T A 6: 137,499,587 (GRCm38) I605L probably benign Het
Eps8l1 T C 7: 4,472,122 (GRCm38) L304P probably damaging Het
Erbb4 T A 1: 68,075,499 (GRCm38) I929F probably damaging Het
Erc2 A T 14: 27,898,594 (GRCm38) N393I probably damaging Het
Fbxw25 C T 9: 109,650,119 (GRCm38) D355N Het
Ffar2 T C 7: 30,819,258 (GRCm38) K286E probably benign Het
Gabrd A G 4: 155,388,932 (GRCm38) probably null Het
Ganc G A 2: 120,436,668 (GRCm38) W488* probably null Het
Gm5724 C T 6: 141,713,193 (GRCm38) probably null Het
Ifi207 T A 1: 173,730,132 (GRCm38) M347L unknown Het
Kat6b A T 14: 21,660,841 (GRCm38) I619F probably damaging Het
Kif26a A G 12: 112,178,147 (GRCm38) R1612G possibly damaging Het
Kifc3 A G 8: 95,110,692 (GRCm38) probably null Het
Krt39 A T 11: 99,521,031 (GRCm38) C76* probably null Het
Lcmt1 G T 7: 123,401,495 (GRCm38) R84L probably benign Het
Lrit1 A G 14: 37,061,780 (GRCm38) Y355C probably benign Het
Mad2l1 C A 6: 66,535,413 (GRCm38) probably null Het
Med23 C T 10: 24,902,448 (GRCm38) T870M probably damaging Het
Mrpl2 A G 17: 46,648,591 (GRCm38) probably null Het
Mtmr6 A G 14: 60,300,445 (GRCm38) D593G probably benign Het
Myo15b G A 11: 115,861,340 (GRCm38) V683M Het
Neb T A 2: 52,235,488 (GRCm38) M506L Het
Olfr103 A G 17: 37,337,055 (GRCm38) F59S probably damaging Het
Olfr103 T C 17: 37,336,578 (GRCm38) Y218C probably benign Het
Olfr1154 G A 2: 87,903,193 (GRCm38) T161I probably benign Het
Olfr434 T A 6: 43,217,388 (GRCm38) H158Q possibly damaging Het
Pdzd8 A G 19: 59,327,863 (GRCm38) F294L probably damaging Het
Rabgap1 G A 2: 37,487,532 (GRCm38) S347N possibly damaging Het
Rasgrf2 T C 13: 91,896,082 (GRCm38) T350A Het
Rbp3 A T 14: 33,954,158 (GRCm38) H21L probably benign Het
Rp1 C A 1: 4,142,658 (GRCm38) V1069F unknown Het
Rtn4 T A 11: 29,741,048 (GRCm38) L1113* probably null Het
Ryr3 A G 2: 112,775,695 (GRCm38) F2407L probably damaging Het
Sept2 T A 1: 93,497,444 (GRCm38) D107E probably damaging Het
Sept4 A G 11: 87,579,008 (GRCm38) T7A probably benign Het
Slc34a3 T A 2: 25,232,225 (GRCm38) I123F probably damaging Het
Slc9a4 T C 1: 40,600,776 (GRCm38) Y243H probably damaging Het
Slco1a1 T A 6: 141,943,388 (GRCm38) E66V probably damaging Het
Spata33 A G 8: 123,213,252 (GRCm38) R68G unknown Het
Spta1 G A 1: 174,202,451 (GRCm38) D928N probably damaging Het
St8sia5 A G 18: 77,254,550 (GRCm38) S319G probably benign Het
Tmem208 A G 8: 105,328,833 (GRCm38) D149G possibly damaging Het
Trank1 A T 9: 111,364,103 (GRCm38) I583F probably damaging Het
Trio C T 15: 27,763,994 (GRCm38) V2015M probably damaging Het
Tsc22d1 C T 14: 76,416,701 (GRCm38) Q207* probably null Het
Tshr A G 12: 91,505,305 (GRCm38) D143G probably benign Het
Txlna C T 4: 129,632,157 (GRCm38) R299H probably damaging Het
Ush2a A T 1: 188,444,592 (GRCm38) T1318S possibly damaging Het
Utp14b A G 1: 78,664,943 (GRCm38) K186R probably damaging Het
Vars2 C T 17: 35,658,158 (GRCm38) A884T possibly damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,815,240 (GRCm38) probably benign Het
Zfp775 A G 6: 48,619,249 (GRCm38) Q19R possibly damaging Het
Other mutations in Cpb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Cpb2 APN 14 75,275,093 (GRCm38) missense possibly damaging 0.64
IGL00925:Cpb2 APN 14 75,260,750 (GRCm38) missense possibly damaging 0.56
IGL01069:Cpb2 APN 14 75,270,775 (GRCm38) missense probably damaging 1.00
IGL01521:Cpb2 APN 14 75,257,631 (GRCm38) missense probably damaging 1.00
IGL02331:Cpb2 APN 14 75,283,404 (GRCm38) missense possibly damaging 0.93
IGL02947:Cpb2 APN 14 75,283,318 (GRCm38) missense probably damaging 1.00
IGL02961:Cpb2 APN 14 75,265,383 (GRCm38) missense probably benign
PIT4677001:Cpb2 UTSW 14 75,256,023 (GRCm38) missense probably benign
R0271:Cpb2 UTSW 14 75,257,709 (GRCm38) splice site probably null
R0277:Cpb2 UTSW 14 75,265,458 (GRCm38) missense probably damaging 1.00
R0372:Cpb2 UTSW 14 75,242,377 (GRCm38) missense probably benign 0.01
R1893:Cpb2 UTSW 14 75,255,963 (GRCm38) missense probably benign 0.44
R1926:Cpb2 UTSW 14 75,242,397 (GRCm38) missense probably benign 0.07
R2372:Cpb2 UTSW 14 75,268,050 (GRCm38) missense probably damaging 0.97
R2923:Cpb2 UTSW 14 75,256,033 (GRCm38) critical splice donor site probably null
R3714:Cpb2 UTSW 14 75,283,217 (GRCm38) splice site probably null
R5958:Cpb2 UTSW 14 75,283,387 (GRCm38) missense probably damaging 1.00
R5987:Cpb2 UTSW 14 75,260,688 (GRCm38) missense probably damaging 1.00
R6354:Cpb2 UTSW 14 75,257,705 (GRCm38) critical splice donor site probably null
R6495:Cpb2 UTSW 14 75,275,079 (GRCm38) missense probably damaging 1.00
R6984:Cpb2 UTSW 14 75,265,458 (GRCm38) missense possibly damaging 0.78
R7211:Cpb2 UTSW 14 75,274,990 (GRCm38) missense probably damaging 1.00
R7380:Cpb2 UTSW 14 75,256,009 (GRCm38) missense possibly damaging 0.77
R7444:Cpb2 UTSW 14 75,283,342 (GRCm38) missense probably damaging 0.99
R7625:Cpb2 UTSW 14 75,272,549 (GRCm38) missense possibly damaging 0.89
R8436:Cpb2 UTSW 14 75,272,575 (GRCm38) missense probably damaging 1.00
R8947:Cpb2 UTSW 14 75,278,187 (GRCm38) missense probably damaging 1.00
R9003:Cpb2 UTSW 14 75,242,428 (GRCm38) splice site probably benign
R9272:Cpb2 UTSW 14 75,283,363 (GRCm38) missense probably damaging 1.00
R9391:Cpb2 UTSW 14 75,270,696 (GRCm38) missense probably damaging 0.98
R9409:Cpb2 UTSW 14 75,268,082 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTTGCACAATAGCTATAAGGGG -3'
(R):5'- AACACCTACCTATTGTTCCCTAAAGG -3'

Sequencing Primer
(F):5'- TGCACAATAGCTATAAGGGGAATTC -3'
(R):5'- CTTACCAGTTCTTCGTGG -3'
Posted On 2019-11-26