Incidental Mutation 'R0622:Cpb1'
ID 58715
Institutional Source Beutler Lab
Gene Symbol Cpb1
Ensembl Gene ENSMUSG00000011463
Gene Name carboxypeptidase B1
Synonyms 0910001A18Rik, 2210008M23Rik, 1810063F02Rik
MMRRC Submission 038811-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0622 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 20302428-20329897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20303982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 361 (D361Y)
Ref Sequence ENSEMBL: ENSMUSP00000011607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011607]
AlphaFold B2RS76
Predicted Effect probably damaging
Transcript: ENSMUST00000011607
AA Change: D361Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: D361Y

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a T A 13: 30,565,664 (GRCm39) M243K probably benign Het
Ap1b1 A G 11: 4,987,707 (GRCm39) M744V probably damaging Het
Ccdc152 T C 15: 3,327,660 (GRCm39) N39S probably damaging Het
Cd163 G A 6: 124,294,311 (GRCm39) V490M probably damaging Het
Col6a5 G T 9: 105,803,051 (GRCm39) H1305N unknown Het
Dchs1 T A 7: 105,412,656 (GRCm39) Y1248F probably damaging Het
Dhdds G C 4: 133,721,547 (GRCm39) F83L probably damaging Het
Dsg4 T A 18: 20,582,845 (GRCm39) V161E possibly damaging Het
Exosc4 A G 15: 76,211,736 (GRCm39) D15G probably damaging Het
F3 A T 3: 121,518,668 (GRCm39) D44V probably damaging Het
Fat2 A T 11: 55,173,954 (GRCm39) F2253Y probably damaging Het
Fbn1 T C 2: 125,220,944 (GRCm39) D650G possibly damaging Het
Gramd4 T A 15: 85,975,590 (GRCm39) F36I probably damaging Het
Grm7 G A 6: 111,335,457 (GRCm39) A623T probably damaging Het
Gys1 A T 7: 45,089,419 (GRCm39) T193S probably damaging Het
Hectd4 A G 5: 121,486,688 (GRCm39) T3228A possibly damaging Het
Itpk1 G T 12: 102,540,239 (GRCm39) D281E probably damaging Het
Kcnh7 A C 2: 62,667,633 (GRCm39) probably null Het
Klhl29 A G 12: 5,131,224 (GRCm39) L852P probably damaging Het
Lrch1 T C 14: 75,033,491 (GRCm39) Y509C probably benign Het
Lrp1b A G 2: 41,618,563 (GRCm39) probably null Het
Mcpt4 C A 14: 56,298,119 (GRCm39) R144L probably benign Het
Mia2 C T 12: 59,178,364 (GRCm39) R12W probably damaging Het
Mrps5 A G 2: 127,436,451 (GRCm39) K116R probably benign Het
Myrf G A 19: 10,200,816 (GRCm39) P286S probably damaging Het
Nanp A G 2: 150,881,164 (GRCm39) M28T probably benign Het
Neb T C 2: 52,102,963 (GRCm39) I4472V probably benign Het
Nfix A C 8: 85,453,111 (GRCm39) N314K probably damaging Het
Nlrc3 C T 16: 3,771,832 (GRCm39) R849Q probably benign Het
Nup210l G A 3: 90,075,047 (GRCm39) V786M probably damaging Het
Or2t44 T C 11: 58,677,167 (GRCm39) S36P probably damaging Het
Or52ad1 A G 7: 102,996,064 (GRCm39) S24P probably damaging Het
Or6z5 T C 7: 6,477,598 (GRCm39) I163T possibly damaging Het
Or8c20 A G 9: 38,260,667 (GRCm39) N96S possibly damaging Het
Pdia4 A T 6: 47,783,452 (GRCm39) F197Y probably damaging Het
Phldb1 T C 9: 44,627,149 (GRCm39) D432G probably damaging Het
Pik3ca A G 3: 32,490,701 (GRCm39) E116G probably damaging Het
Polq T C 16: 36,881,355 (GRCm39) V1173A probably benign Het
Pou2f3 C T 9: 43,036,414 (GRCm39) R423H probably damaging Het
Pramel29 T C 4: 143,939,583 (GRCm39) probably benign Het
Prkag2 T C 5: 25,074,247 (GRCm39) N246S probably damaging Het
Proser1 A G 3: 53,385,281 (GRCm39) S388G probably benign Het
Ralgps1 G A 2: 33,064,459 (GRCm39) R238* probably null Het
Rfx2 T C 17: 57,084,071 (GRCm39) D657G probably damaging Het
Ryr3 A G 2: 112,492,900 (GRCm39) F3724S probably damaging Het
Sh2d5 T C 4: 137,986,539 (GRCm39) S421P probably damaging Het
Slc34a1 C A 13: 23,996,594 (GRCm39) T33K probably damaging Het
St8sia5 A G 18: 77,333,809 (GRCm39) T156A probably damaging Het
Stk32c T C 7: 138,768,026 (GRCm39) D85G probably benign Het
Tnks A G 8: 35,407,976 (GRCm39) S251P probably damaging Het
Tnxb T A 17: 34,937,703 (GRCm39) L3864Q probably damaging Het
Trim9 A G 12: 70,393,378 (GRCm39) Y189H probably damaging Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Wasf3 A G 5: 146,403,602 (GRCm39) probably null Het
Wdr90 C T 17: 26,074,632 (GRCm39) C603Y probably damaging Het
Zdhhc25 T C 15: 88,485,310 (GRCm39) L215P probably damaging Het
Zeb1 C T 18: 5,759,123 (GRCm39) Q140* probably null Het
Zfp677 C T 17: 21,617,962 (GRCm39) L340F 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
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
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
Predicted Primers PCR Primer
(F):5'- CCCCAAAGCAGGCAATCTGCTG -3'
(R):5'- ACAAGCCTGGAGTGCTGTCCTC -3'

Sequencing Primer
(F):5'- AAGCAGGCAATCTGCTGTTTTC -3'
(R):5'- AGATGCCCACAGTGGACTTC -3'
Posted On 2013-07-11