Incidental Mutation 'IGL01832:Cpa2'
ID 154817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpa2
Ensembl Gene ENSMUSG00000071553
Gene Name carboxypeptidase A2, pancreatic
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01832
Quality Score
Status
Chromosome 6
Chromosomal Location 30541641-30564475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30551998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 242 (S242P)
Ref Sequence ENSEMBL: ENSMUSP00000093771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096066]
AlphaFold Q504N0
Predicted Effect probably benign
Transcript: ENSMUST00000096066
AA Change: S242P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093771
Gene: ENSMUSG00000071553
AA Change: S242P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Propep_M14 26 100 3.5e-25 PFAM
Zn_pept 121 400 3.4e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146936
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed by the pancreatic exocrine cells which secrete the enzyme during digestion. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Cpa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Cpa2 APN 6 30,564,411 (GRCm39) missense probably benign 0.03
IGL02233:Cpa2 APN 6 30,557,666 (GRCm39) splice site probably benign
IGL02534:Cpa2 APN 6 30,550,767 (GRCm39) missense probably benign 0.20
IGL03057:Cpa2 APN 6 30,557,726 (GRCm39) missense probably damaging 1.00
R0931:Cpa2 UTSW 6 30,552,070 (GRCm39) splice site probably benign
R1442:Cpa2 UTSW 6 30,544,865 (GRCm39) splice site probably null
R1664:Cpa2 UTSW 6 30,554,314 (GRCm39) missense probably damaging 0.98
R1752:Cpa2 UTSW 6 30,552,023 (GRCm39) missense probably damaging 1.00
R2761:Cpa2 UTSW 6 30,554,193 (GRCm39) missense probably damaging 1.00
R4535:Cpa2 UTSW 6 30,552,020 (GRCm39) missense probably benign 0.19
R4913:Cpa2 UTSW 6 30,554,292 (GRCm39) missense probably damaging 1.00
R5256:Cpa2 UTSW 6 30,547,196 (GRCm39) missense probably damaging 0.96
R5461:Cpa2 UTSW 6 30,544,180 (GRCm39) missense probably benign 0.03
R5630:Cpa2 UTSW 6 30,550,731 (GRCm39) splice site probably null
R6629:Cpa2 UTSW 6 30,554,193 (GRCm39) missense probably damaging 0.99
R7368:Cpa2 UTSW 6 30,551,989 (GRCm39) missense probably damaging 1.00
R8140:Cpa2 UTSW 6 30,544,904 (GRCm39) missense probably benign 0.10
R8163:Cpa2 UTSW 6 30,564,350 (GRCm39) missense probably damaging 1.00
R8165:Cpa2 UTSW 6 30,564,345 (GRCm39) missense probably benign 0.00
R8877:Cpa2 UTSW 6 30,541,692 (GRCm39) missense probably damaging 1.00
R9780:Cpa2 UTSW 6 30,545,536 (GRCm39) missense probably benign
Posted On 2014-02-04