Incidental Mutation 'IGL01832:Cpa2'
ID154817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpa2
Ensembl Gene ENSMUSG00000071553
Gene Namecarboxypeptidase A2, pancreatic
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01832
Quality Score
Status
Chromosome6
Chromosomal Location30541582-30564476 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30551999 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 242 (S242P)
Ref Sequence ENSEMBL: ENSMUSP00000093771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096066]
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: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atp23 A T 10: 126,894,345 N111K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C1qtnf12 A G 4: 155,965,866 D220G probably damaging Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Ctps2 G T X: 162,936,703 probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gab2 T C 7: 97,304,238 L606P probably damaging Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Ndrg4 A G 8: 95,713,319 E349G probably damaging Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Plppr2 C A 9: 21,943,446 R138S possibly damaging Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Urgcp T C 11: 5,717,325 T338A probably damaging Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in Cpa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Cpa2 APN 6 30564412 missense probably benign 0.03
IGL02233:Cpa2 APN 6 30557667 splice site probably benign
IGL02534:Cpa2 APN 6 30550768 missense probably benign 0.20
IGL03057:Cpa2 APN 6 30557727 missense probably damaging 1.00
R0931:Cpa2 UTSW 6 30552071 splice site probably benign
R1442:Cpa2 UTSW 6 30544866 intron probably null
R1664:Cpa2 UTSW 6 30554315 missense probably damaging 0.98
R1752:Cpa2 UTSW 6 30552024 missense probably damaging 1.00
R2761:Cpa2 UTSW 6 30554194 missense probably damaging 1.00
R4535:Cpa2 UTSW 6 30552021 missense probably benign 0.19
R4913:Cpa2 UTSW 6 30554293 missense probably damaging 1.00
R5256:Cpa2 UTSW 6 30547197 missense probably damaging 0.96
R5461:Cpa2 UTSW 6 30544181 missense probably benign 0.03
R5630:Cpa2 UTSW 6 30550732 splice site probably null
R6629:Cpa2 UTSW 6 30554194 missense probably damaging 0.99
R7368:Cpa2 UTSW 6 30551990 missense probably damaging 1.00
R8140:Cpa2 UTSW 6 30544905 missense probably benign 0.10
R8163:Cpa2 UTSW 6 30564351 missense probably damaging 1.00
R8165:Cpa2 UTSW 6 30564346 missense probably benign 0.00
Posted On2014-02-04