Incidental Mutation 'IGL01061:Cpb1'
ID 50678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpb1
Ensembl Gene ENSMUSG00000011463
Gene Name carboxypeptidase B1
Synonyms 0910001A18Rik, 2210008M23Rik, 1810063F02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01061
Quality Score
Status
Chromosome 3
Chromosomal Location 20302428-20329897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20320680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 92 (I92L)
Ref Sequence ENSEMBL: ENSMUSP00000011607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011607]
AlphaFold B2RS76
Predicted Effect probably benign
Transcript: ENSMUST00000011607
AA Change: I92L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: I92L

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Propep_M14 26 102 2.4e-19 PFAM
Zn_pept 117 398 2.08e-147 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137855
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
B3gnt2 T A 11: 22,786,042 (GRCm39) E382V probably damaging Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fam83a A T 15: 57,849,771 (GRCm39) Y105F possibly damaging Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mcm3 A T 1: 20,884,720 (GRCm39) I261N possibly damaging Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or52b1 A G 7: 104,978,589 (GRCm39) I270T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prelid3b T C 2: 174,307,614 (GRCm39) probably null Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab22a T A 2: 173,530,003 (GRCm39) D60E probably damaging Het
Rab32 A G 10: 10,433,618 (GRCm39) L72P probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in Cpb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Cpb1 APN 3 20,306,193 (GRCm39) missense probably benign 0.00
IGL01376:Cpb1 APN 3 20,324,488 (GRCm39) missense probably benign 0.00
IGL01409:Cpb1 APN 3 20,303,969 (GRCm39) missense possibly damaging 0.51
IGL01505:Cpb1 APN 3 20,320,410 (GRCm39) missense probably damaging 1.00
IGL01599:Cpb1 APN 3 20,306,118 (GRCm39) critical splice donor site probably null
IGL01672:Cpb1 APN 3 20,329,585 (GRCm39) missense probably null 0.34
IGL02421:Cpb1 APN 3 20,306,148 (GRCm39) missense probably damaging 1.00
IGL02685:Cpb1 APN 3 20,319,520 (GRCm39) missense probably damaging 1.00
IGL02825:Cpb1 APN 3 20,303,889 (GRCm39) missense probably damaging 1.00
IGL02929:Cpb1 APN 3 20,329,630 (GRCm39) missense probably benign 0.00
IGL03229:Cpb1 APN 3 20,304,001 (GRCm39) nonsense probably null
R0106:Cpb1 UTSW 3 20,320,697 (GRCm39) splice site probably null
R0106:Cpb1 UTSW 3 20,320,697 (GRCm39) splice site probably null
R0485:Cpb1 UTSW 3 20,329,792 (GRCm39) missense unknown
R0609:Cpb1 UTSW 3 20,316,638 (GRCm39) missense probably damaging 1.00
R0622:Cpb1 UTSW 3 20,303,982 (GRCm39) missense probably damaging 1.00
R0676:Cpb1 UTSW 3 20,320,697 (GRCm39) splice site probably null
R0829:Cpb1 UTSW 3 20,306,107 (GRCm39) splice site probably benign
R0981:Cpb1 UTSW 3 20,329,654 (GRCm39) missense probably benign 0.29
R1496:Cpb1 UTSW 3 20,317,696 (GRCm39) missense probably damaging 0.99
R1535:Cpb1 UTSW 3 20,320,451 (GRCm39) missense probably benign 0.19
R1607:Cpb1 UTSW 3 20,317,946 (GRCm39) missense probably benign 0.03
R1707:Cpb1 UTSW 3 20,329,655 (GRCm39) missense probably damaging 0.99
R1753:Cpb1 UTSW 3 20,320,405 (GRCm39) missense possibly damaging 0.67
R1866:Cpb1 UTSW 3 20,317,920 (GRCm39) missense probably benign 0.00
R2177:Cpb1 UTSW 3 20,320,611 (GRCm39) missense probably benign 0.41
R2234:Cpb1 UTSW 3 20,329,629 (GRCm39) missense probably benign 0.04
R3110:Cpb1 UTSW 3 20,319,521 (GRCm39) missense probably damaging 1.00
R3112:Cpb1 UTSW 3 20,319,521 (GRCm39) missense probably damaging 1.00
R4353:Cpb1 UTSW 3 20,316,708 (GRCm39) missense probably benign 0.07
R4405:Cpb1 UTSW 3 20,317,733 (GRCm39) missense probably benign 0.00
R4485:Cpb1 UTSW 3 20,303,865 (GRCm39) missense probably benign 0.00
R4734:Cpb1 UTSW 3 20,317,876 (GRCm39) missense probably benign 0.43
R4984:Cpb1 UTSW 3 20,324,516 (GRCm39) frame shift probably null
R5807:Cpb1 UTSW 3 20,317,906 (GRCm39) missense probably damaging 0.98
R6377:Cpb1 UTSW 3 20,329,748 (GRCm39) critical splice donor site probably null
R6441:Cpb1 UTSW 3 20,303,978 (GRCm39) missense probably damaging 1.00
R7175:Cpb1 UTSW 3 20,317,927 (GRCm39) missense probably benign 0.00
R7488:Cpb1 UTSW 3 20,324,488 (GRCm39) missense possibly damaging 0.46
R8288:Cpb1 UTSW 3 20,319,531 (GRCm39) nonsense probably null
R9260:Cpb1 UTSW 3 20,316,638 (GRCm39) missense probably damaging 1.00
R9568:Cpb1 UTSW 3 20,320,697 (GRCm39) splice site probably null
Posted On 2013-06-21