Incidental Mutation 'IGL02825:Cpb1'
ID361172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpb1
Ensembl Gene ENSMUSG00000011463
Gene Namecarboxypeptidase B1 (tissue)
Synonyms1810063F02Rik, 0910001A18Rik, 2210008M23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02825
Quality Score
Status
Chromosome3
Chromosomal Location20248264-20275733 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 20249725 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 392 (I392F)
Ref Sequence ENSEMBL: ENSMUSP00000011607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011607]
Predicted Effect probably damaging
Transcript: ENSMUST00000011607
AA Change: I392F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: I392F

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,843,698 V163A possibly damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
B3gnt4 T C 5: 123,511,051 F160L possibly damaging Het
Brd3 T C 2: 27,449,263 E685G probably damaging Het
Cacna2d2 C T 9: 107,524,460 R746C probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chl1 T A 6: 103,668,803 V268E possibly damaging Het
Dnaic1 T C 4: 41,625,101 probably benign Het
Dync2h1 T C 9: 6,955,901 probably benign Het
Edc4 T C 8: 105,890,611 S1021P probably damaging Het
Exoc7 A C 11: 116,297,585 L296R probably damaging Het
Fgd5 A G 6: 92,038,087 probably null Het
Gm28042 T A 2: 120,031,644 M232K probably damaging Het
Gm884 G A 11: 103,617,068 probably benign Het
Ints1 A T 5: 139,764,739 S888T probably benign Het
Kirrel A T 3: 87,089,288 probably benign Het
Lrp1 C T 10: 127,542,605 R4037Q probably damaging Het
Lrrn3 A T 12: 41,452,593 V575D probably damaging Het
Mapk11 A G 15: 89,146,382 Y103H probably damaging Het
Mrpl19 G T 6: 81,965,815 T38K probably benign Het
Nefl A T 14: 68,084,346 K128N possibly damaging Het
Olfm1 A G 2: 28,229,078 N242D probably damaging Het
Olfr601 T C 7: 103,358,361 I278V probably benign Het
Olfr959 A T 9: 39,572,581 I226N probably damaging Het
Oprd1 T A 4: 132,117,359 T113S probably damaging Het
Pds5b C T 5: 150,728,970 T234I possibly damaging Het
Prpf3 A T 3: 95,853,480 C37S probably damaging Het
Rpgrip1l G A 8: 91,304,805 T148M probably damaging Het
Rph3a T C 5: 120,945,446 K587R possibly damaging Het
Scn3b T C 9: 40,277,145 C5R probably damaging Het
Sirpa C T 2: 129,615,452 P149S probably damaging Het
Slco1a1 A T 6: 141,918,617 C486S probably damaging Het
Spin1 C A 13: 51,123,296 probably benign Het
Stom C A 2: 35,321,632 V126F probably damaging Het
Tom1 A G 8: 75,057,255 D64G probably damaging Het
Trbv4 T A 6: 41,059,679 L46Q probably damaging Het
Trhr A T 15: 44,229,525 D386V possibly damaging Het
Vmn2r101 T A 17: 19,589,870 I306N probably benign Het
Vmn2r51 C T 7: 10,098,119 probably benign Het
Vmn2r63 A G 7: 42,926,850 probably null Het
Zfp277 T C 12: 40,317,176 K494E probably benign Het
Zranb3 A T 1: 127,959,752 S979R probably benign Het
Other mutations in Cpb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Cpb1 APN 3 20252029 missense probably benign 0.00
IGL01061:Cpb1 APN 3 20266516 missense probably benign 0.06
IGL01376:Cpb1 APN 3 20270324 missense probably benign 0.00
IGL01409:Cpb1 APN 3 20249805 missense possibly damaging 0.51
IGL01505:Cpb1 APN 3 20266246 missense probably damaging 1.00
IGL01599:Cpb1 APN 3 20251954 critical splice donor site probably null
IGL01672:Cpb1 APN 3 20275421 missense probably null 0.34
IGL02421:Cpb1 APN 3 20251984 missense probably damaging 1.00
IGL02685:Cpb1 APN 3 20265356 missense probably damaging 1.00
IGL02929:Cpb1 APN 3 20275466 missense probably benign 0.00
IGL03229:Cpb1 APN 3 20249837 nonsense probably null
R0106:Cpb1 UTSW 3 20266533 splice site probably null
R0106:Cpb1 UTSW 3 20266533 splice site probably null
R0485:Cpb1 UTSW 3 20275628 missense unknown
R0609:Cpb1 UTSW 3 20262474 missense probably damaging 1.00
R0622:Cpb1 UTSW 3 20249818 missense probably damaging 1.00
R0676:Cpb1 UTSW 3 20266533 splice site probably null
R0829:Cpb1 UTSW 3 20251943 splice site probably benign
R0981:Cpb1 UTSW 3 20275490 missense probably benign 0.29
R1496:Cpb1 UTSW 3 20263532 missense probably damaging 0.99
R1535:Cpb1 UTSW 3 20266287 missense probably benign 0.19
R1607:Cpb1 UTSW 3 20263782 missense probably benign 0.03
R1707:Cpb1 UTSW 3 20275491 missense probably damaging 0.99
R1753:Cpb1 UTSW 3 20266241 missense possibly damaging 0.67
R1866:Cpb1 UTSW 3 20263756 missense probably benign 0.00
R2177:Cpb1 UTSW 3 20266447 missense probably benign 0.41
R2234:Cpb1 UTSW 3 20275465 missense probably benign 0.04
R3110:Cpb1 UTSW 3 20265357 missense probably damaging 1.00
R3112:Cpb1 UTSW 3 20265357 missense probably damaging 1.00
R4353:Cpb1 UTSW 3 20262544 missense probably benign 0.07
R4405:Cpb1 UTSW 3 20263569 missense probably benign 0.00
R4485:Cpb1 UTSW 3 20249701 missense probably benign 0.00
R4734:Cpb1 UTSW 3 20263712 missense probably benign 0.43
R4984:Cpb1 UTSW 3 20270352 frame shift probably null
R5807:Cpb1 UTSW 3 20263742 missense probably damaging 0.98
R6377:Cpb1 UTSW 3 20275584 critical splice donor site probably null
R6441:Cpb1 UTSW 3 20249814 missense probably damaging 1.00
R7175:Cpb1 UTSW 3 20263763 missense probably benign 0.00
R7488:Cpb1 UTSW 3 20270324 missense possibly damaging 0.46
R8288:Cpb1 UTSW 3 20265367 nonsense probably null
Posted On2015-12-18