Incidental Mutation 'IGL01409:Cpb1'
ID 79908
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 # IGL01409
Quality Score
Status
Chromosome 3
Chromosomal Location 20302428-20329897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20303969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 365 (Y365F)
Ref Sequence ENSEMBL: ENSMUSP00000011607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011607]
AlphaFold B2RS76
Predicted Effect possibly damaging
Transcript: ENSMUST00000011607
AA Change: Y365F

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: Y365F

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: ENSMUST00000125945
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 C T 10: 85,494,029 (GRCm39) A1049V possibly damaging Het
Arhgap26 C T 18: 39,243,504 (GRCm39) probably benign Het
Asxl1 T C 2: 153,234,860 (GRCm39) probably benign Het
Atm A T 9: 53,410,471 (GRCm39) V1037E probably benign Het
Bmp6 A G 13: 38,669,865 (GRCm39) N383S probably damaging Het
Btf3l4 A C 4: 108,676,394 (GRCm39) S103R probably damaging Het
Cadps2 T C 6: 23,587,440 (GRCm39) D321G probably damaging Het
Col24a1 G A 3: 145,244,319 (GRCm39) S1531N probably benign Het
Dpp6 T C 5: 27,762,599 (GRCm39) Y238H probably damaging Het
Epha6 G A 16: 59,476,100 (GRCm39) R1089* probably null Het
Fga T C 3: 82,940,059 (GRCm39) F571S probably damaging Het
Focad A G 4: 88,260,542 (GRCm39) T933A unknown Het
Gm57858 T A 3: 36,080,077 (GRCm39) M227L possibly damaging Het
Gria2 A G 3: 80,615,004 (GRCm39) probably null Het
Hnrnpul1 T C 7: 25,424,077 (GRCm39) N725S unknown Het
Ik A T 18: 36,889,974 (GRCm39) K534N probably damaging Het
Itga8 T C 2: 12,196,525 (GRCm39) T631A probably benign Het
Kcnip1 G T 11: 33,580,593 (GRCm39) D214E probably benign Het
Kcnk10 A T 12: 98,456,322 (GRCm39) Y170N probably damaging Het
Lalba A G 15: 98,379,948 (GRCm39) probably null Het
Ly75 A T 2: 60,152,036 (GRCm39) probably null Het
Myh10 T C 11: 68,698,045 (GRCm39) L1629P probably damaging Het
Myo15b C A 11: 115,760,330 (GRCm39) C1127* probably null Het
Neurl4 T G 11: 69,797,925 (GRCm39) N728K probably damaging Het
Nrxn3 T A 12: 89,477,128 (GRCm39) F801Y probably damaging Het
Nup214 G T 2: 31,916,943 (GRCm39) probably null Het
Obscn G A 11: 58,921,884 (GRCm39) R6624C probably damaging Het
Or2g1 T C 17: 38,106,413 (GRCm39) F26S probably damaging Het
Pdk1 A G 2: 71,726,123 (GRCm39) T344A probably benign Het
Pitx2 C A 3: 129,008,413 (GRCm39) S63Y probably damaging Het
Ppara A C 15: 85,661,844 (GRCm39) L28F probably damaging Het
Rad54l G A 4: 115,963,074 (GRCm39) T308I probably damaging Het
Sbds T C 5: 130,282,907 (GRCm39) E7G probably damaging Het
Slc22a19 T C 19: 7,688,495 (GRCm39) I22V probably benign Het
Slfn10-ps T C 11: 82,926,322 (GRCm39) noncoding transcript Het
Spag4 T C 2: 155,911,252 (GRCm39) S396P possibly damaging Het
Spef2 C A 15: 9,716,499 (GRCm39) L362F probably damaging Het
Srebf2 A G 15: 82,055,419 (GRCm39) T208A probably damaging Het
Ssc5d A G 7: 4,945,808 (GRCm39) T947A probably benign Het
Tdp1 T C 12: 99,875,940 (GRCm39) I297T possibly damaging Het
Tent5c A T 3: 100,380,485 (GRCm39) D90E probably damaging Het
Tsen2 T C 6: 115,536,555 (GRCm39) Y104H possibly damaging Het
Was G A X: 7,954,055 (GRCm39) R229C probably damaging Het
Other mutations in Cpb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Cpb1 APN 3 20,306,193 (GRCm39) missense probably benign 0.00
IGL01061:Cpb1 APN 3 20,320,680 (GRCm39) missense probably benign 0.06
IGL01376:Cpb1 APN 3 20,324,488 (GRCm39) missense probably benign 0.00
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 2013-11-05