Incidental Mutation 'IGL02929:Cpb1'
ID 364002
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 # IGL02929
Quality Score
Status
Chromosome 3
Chromosomal Location 20302428-20329897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20329630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 32 (D32G)
Ref Sequence ENSEMBL: ENSMUSP00000011607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011607]
AlphaFold B2RS76
Predicted Effect probably benign
Transcript: ENSMUST00000011607
AA Change: D32G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: D32G

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adam32 C A 8: 25,362,659 (GRCm39) V13L possibly damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Ift122 A G 6: 115,879,838 (GRCm39) D612G probably damaging Het
Igkv6-25 A G 6: 70,192,929 (GRCm39) Y112C probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Ltv1 T C 10: 13,067,970 (GRCm39) K6R possibly damaging Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mat2b A C 11: 40,575,540 (GRCm39) D154E probably benign Het
Mtrf1 A G 14: 79,640,273 (GRCm39) K143E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Npm2 T A 14: 70,889,678 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Slc52a2 G A 15: 76,424,776 (GRCm39) C338Y probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign 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
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
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 2015-12-18