Incidental Mutation 'IGL02534:Cpa2'
ID297418
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 #IGL02534
Quality Score
Status
Chromosome6
Chromosomal Location30541582-30564476 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30550768 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 201 (D201E)
Ref Sequence ENSEMBL: ENSMUSP00000093771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096066]
Predicted Effect probably benign
Transcript: ENSMUST00000096066
AA Change: D201E

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093771
Gene: ENSMUSG00000071553
AA Change: D201E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 C T 13: 95,369,522 E186K possibly damaging Het
Anks1b A G 10: 90,895,117 I932V probably benign Het
Atg2b A G 12: 105,643,267 Y1361H probably damaging Het
Bcl9 G T 3: 97,215,229 L85M probably damaging Het
Bcl9l T G 9: 44,505,739 S291R probably benign Het
Efna5 A T 17: 62,613,389 C164* probably null Het
Fam160b2 A T 14: 70,585,688 H642Q probably damaging Het
Fam160b2 T A 14: 70,586,190 H580L probably benign Het
Gm6316 A G 12: 69,920,989 probably benign Het
Gm996 G T 2: 25,577,031 S956* probably null Het
Gucy2g A G 19: 55,241,068 S57P probably damaging Het
Inf2 C A 12: 112,610,496 A968E unknown Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mcm5 T A 8: 75,114,233 V222E probably damaging Het
Muc5b A G 7: 141,844,719 Y287C unknown Het
Olfr1037 A G 2: 86,085,369 M136T probably damaging Het
Olfr1121 T G 2: 87,372,254 S241A probably benign Het
Olfr292 G A 7: 86,694,731 V92M probably benign Het
Olfr538 A T 7: 140,574,641 M163L probably benign Het
Pabpc1l A G 2: 164,027,490 D70G probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Ppp1r17 C A 6: 56,026,460 S86* probably null Het
Rasd1 A G 11: 59,964,789 M6T possibly damaging Het
Rsph14 C A 10: 74,957,634 V345F probably damaging Het
Slc11a2 T A 15: 100,401,326 Q121L probably benign Het
Smc5 A T 19: 23,228,172 probably null Het
Tanc2 T C 11: 105,835,168 L386P probably damaging Het
Tmem9b A T 7: 109,736,957 L160Q probably damaging Het
Trim32 A G 4: 65,614,669 T488A possibly damaging Het
Tubb1 A G 2: 174,455,669 I24V probably benign Het
Upf1 A T 8: 70,335,652 probably null Het
Zfp263 T A 16: 3,746,415 probably benign Het
Other mutations in Cpa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Cpa2 APN 6 30564412 missense probably benign 0.03
IGL01832:Cpa2 APN 6 30551999 missense probably benign
IGL02233:Cpa2 APN 6 30557667 splice site probably benign
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
Posted On2015-04-16