Incidental Mutation 'R5461:Cpa2'
ID 433018
Institutional Source Beutler Lab
Gene Symbol Cpa2
Ensembl Gene ENSMUSG00000071553
Gene Name carboxypeptidase A2, pancreatic
Synonyms
MMRRC Submission 043023-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5461 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 30541641-30564475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30544180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 38 (T38A)
Ref Sequence ENSEMBL: ENSMUSP00000093771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096066]
AlphaFold Q504N0
Predicted Effect probably benign
Transcript: ENSMUST00000096066
AA Change: T38A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000093771
Gene: ENSMUSG00000071553
AA Change: T38A

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: ENSMUST00000133009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151684
AA Change: D101G
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,643 (GRCm39) I405K possibly damaging Het
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Adgrg6 A T 10: 14,296,248 (GRCm39) W1079R probably damaging Het
Arsa T C 15: 89,357,478 (GRCm39) H495R probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Brsk2 T C 7: 141,541,643 (GRCm39) L152P probably damaging Het
C8a T C 4: 104,673,042 (GRCm39) probably benign Het
Ccdc177 G A 12: 80,804,816 (GRCm39) A486V unknown Het
Crim1 T G 17: 78,545,236 (GRCm39) C133G probably damaging Het
Dnah2 C T 11: 69,364,177 (GRCm39) probably null Het
Ep400 G A 5: 110,824,550 (GRCm39) Q2392* probably null Het
Exoc2 C T 13: 31,109,738 (GRCm39) S210N possibly damaging Het
Gm7003 A G 12: 113,766,847 (GRCm39) probably benign Het
Hydin A G 8: 111,245,863 (GRCm39) K2192R probably damaging Het
Ica1l T C 1: 60,053,010 (GRCm39) D176G probably damaging Het
Ints10 G A 8: 69,246,693 (GRCm39) E8K possibly damaging Het
Itgb8 T C 12: 119,131,740 (GRCm39) E635G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kng1 A G 16: 22,897,887 (GRCm39) H429R probably benign Het
Mcm3 T C 1: 20,884,661 (GRCm39) I281V probably benign Het
Msi1 T C 5: 115,579,450 (GRCm39) S200P possibly damaging Het
Nat3 T C 8: 68,000,514 (GRCm39) L131P probably damaging Het
Ncor2 T C 5: 125,104,177 (GRCm39) E1752G probably damaging Het
Nnt C T 13: 119,505,131 (GRCm39) A414T possibly damaging Het
Nrp2 C T 1: 62,786,370 (GRCm39) Q292* probably null Het
Or51ah3 T A 7: 103,209,780 (GRCm39) L32Q probably damaging Het
Or52k2 G A 7: 102,253,615 (GRCm39) G18D probably damaging Het
Otop1 A T 5: 38,457,059 (GRCm39) I273F probably damaging Het
Phactr3 T A 2: 177,920,694 (GRCm39) N177K probably benign Het
Pik3c2b C T 1: 133,027,440 (GRCm39) T1313I possibly damaging Het
Pikfyve C A 1: 65,274,192 (GRCm39) D677E probably damaging Het
Poc1a T C 9: 106,165,209 (GRCm39) F157L probably damaging Het
Prodh2 G T 7: 30,193,948 (GRCm39) R185L possibly damaging Het
Rcc1 T C 4: 132,061,497 (GRCm39) I350M probably benign Het
Rhd G A 4: 134,611,928 (GRCm39) A249T probably damaging Het
Rtf2 A G 2: 172,287,252 (GRCm39) Y57C probably damaging Het
Shmt1 A G 11: 60,685,725 (GRCm39) S284P possibly damaging Het
Shpk T C 11: 73,090,361 (GRCm39) V6A probably benign Het
Slc4a5 T C 6: 83,262,836 (GRCm39) V661A probably benign Het
Spesp1 A T 9: 62,180,014 (GRCm39) L298Q probably damaging Het
Tas1r2 C A 4: 139,387,320 (GRCm39) Q231K probably benign Het
Tcp11l1 T C 2: 104,518,856 (GRCm39) Y280C probably benign Het
Tnip1 T C 11: 54,801,625 (GRCm39) probably benign Het
Topbp1 T A 9: 103,192,395 (GRCm39) D295E probably benign Het
Unc79 C T 12: 103,078,397 (GRCm39) L1521F probably damaging Het
Usp10 T C 8: 120,683,406 (GRCm39) I759T probably benign Het
Vmn1r30 A T 6: 58,412,759 (GRCm39) C24* probably null Het
Vmn2r104 T A 17: 20,250,343 (GRCm39) I643F probably damaging Het
Wwc1 T A 11: 35,758,199 (GRCm39) T716S probably damaging Het
Zfp949 C T 9: 88,451,537 (GRCm39) T369M probably benign Het
Zhx3 A G 2: 160,621,938 (GRCm39) V743A probably benign Het
Other mutations in Cpa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Cpa2 APN 6 30,564,411 (GRCm39) missense probably benign 0.03
IGL01832:Cpa2 APN 6 30,551,998 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TCCTTGGAGGAAATCAAGCTG -3'
(R):5'- CCGGGAAAGAAGGCCATTTG -3'

Sequencing Primer
(F):5'- CTCCTCATTCCGGGGATGTG -3'
(R):5'- AGAAGGCCATTTGCTCGG -3'
Posted On 2016-10-06