Incidental Mutation 'R1548:Cpa1'
ID 172320
Institutional Source Beutler Lab
Gene Symbol Cpa1
Ensembl Gene ENSMUSG00000054446
Gene Name carboxypeptidase A1, pancreatic
Synonyms 0910001L12Rik
MMRRC Submission 039587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1548 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 30639217-30645360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30642334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 245 (G245D)
Ref Sequence ENSEMBL: ENSMUSP00000031806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031806]
AlphaFold Q7TPZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000031806
AA Change: G245D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031806
Gene: ENSMUSG00000054446
AA Change: G245D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Propep_M14 26 100 1.6e-24 PFAM
Zn_pept 122 402 1.09e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139004
Meta Mutation Damage Score 0.2516 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: This gene encodes carboxypeptidase A, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme. This gene is expressed in pancreas, the encoded protein is a major component of digestive enzymes secreted by pancreas and plays an important role in the process of digestion. This gene is located in a cluster of related carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,588,818 (GRCm39) R78S probably damaging Het
Acad10 G C 5: 121,764,104 (GRCm39) probably benign Het
Acad10 G T 5: 121,764,103 (GRCm39) probably benign Het
Ang2 C A 14: 51,432,990 (GRCm39) E131* probably null Het
Ankfn1 T C 11: 89,417,367 (GRCm39) N82D probably damaging Het
Anks1b T C 10: 89,885,847 (GRCm39) I181T possibly damaging Het
Bcl2l12 C G 7: 44,642,242 (GRCm39) G215R probably damaging Het
Bnc2 A G 4: 84,194,194 (GRCm39) Y1044H probably damaging Het
Cacna1s T C 1: 136,038,675 (GRCm39) F1172S probably damaging Het
Cct8 A G 16: 87,282,472 (GRCm39) I482T probably damaging Het
Cfap74 C T 4: 155,518,502 (GRCm39) T580I probably benign Het
Cib1 A T 7: 79,878,162 (GRCm39) Y105* probably null Het
Csmd3 A G 15: 47,845,371 (GRCm39) V801A possibly damaging Het
Ddx10 T C 9: 53,060,861 (GRCm39) probably null Het
Ddx4 T C 13: 112,736,531 (GRCm39) N613S probably damaging Het
Drd3 A G 16: 43,641,704 (GRCm39) D340G probably benign Het
E2f4 A G 8: 106,031,320 (GRCm39) *411W probably null Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Foxp1 A T 6: 98,922,381 (GRCm39) I450N probably damaging Het
Ftdc1 A T 16: 58,436,202 (GRCm39) D40E probably benign Het
Gpr19 A G 6: 134,847,047 (GRCm39) F175S possibly damaging Het
Gpr21 C T 2: 37,408,084 (GRCm39) T210M probably damaging Het
Grhl2 C T 15: 37,336,567 (GRCm39) A488V probably benign Het
Hif3a T C 7: 16,778,328 (GRCm39) T435A probably benign Het
Hoxb4 C T 11: 96,209,725 (GRCm39) R44* probably null Het
Ifi47 A G 11: 48,986,698 (GRCm39) D155G probably damaging Het
Igdcc4 T C 9: 65,042,509 (GRCm39) L142P probably benign Het
Ints6 G A 14: 62,951,141 (GRCm39) P296L probably damaging Het
Itga3 A G 11: 94,937,745 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Krtap20-1 G A 16: 88,812,277 (GRCm39) probably benign Het
Lgals12 A T 19: 7,581,677 (GRCm39) H50Q probably benign Het
Lrp12 A G 15: 39,735,902 (GRCm39) S696P probably damaging Het
Lrp6 G A 6: 134,436,392 (GRCm39) T1258I possibly damaging Het
Meis2 C T 2: 115,889,183 (GRCm39) D190N probably damaging Het
Mir100hg T C 9: 41,492,672 (GRCm39) L116P probably damaging Het
Mon2 C T 10: 122,871,912 (GRCm39) probably benign Het
Muc6 A G 7: 141,238,368 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myo15a A G 11: 60,379,064 (GRCm39) H1394R probably damaging Het
Myo5a A T 9: 75,079,028 (GRCm39) I929F probably damaging Het
Nek6 T A 2: 38,458,907 (GRCm39) Y141N probably damaging Het
Notch4 T A 17: 34,787,396 (GRCm39) C319S probably damaging Het
Nwd2 A T 5: 63,957,525 (GRCm39) D285V probably benign Het
Olfml1 T C 7: 107,189,582 (GRCm39) S216P possibly damaging Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Pfkfb2 G T 1: 130,625,820 (GRCm39) H453Q probably benign Het
Pigt C T 2: 164,343,439 (GRCm39) T305I probably benign Het
Plxnb1 C T 9: 108,929,968 (GRCm39) L275F possibly damaging Het
Ppm1d C T 11: 85,230,431 (GRCm39) R350C probably damaging Het
Prss1l G T 6: 41,372,945 (GRCm39) L72F probably damaging Het
Rassf1 C A 9: 107,429,045 (GRCm39) P84T probably benign Het
Rgl3 G T 9: 21,892,002 (GRCm39) R361S probably benign Het
Rnf213 G A 11: 119,333,533 (GRCm39) R2914H probably damaging Het
Ryr2 A T 13: 11,569,435 (GRCm39) C4956* probably null Het
Scaper C T 9: 55,723,954 (GRCm39) R668H probably damaging Het
Spata6 T C 4: 111,636,203 (GRCm39) F165L probably benign Het
Tcirg1 A T 19: 3,946,845 (GRCm39) W694R probably benign Het
Tmem245 A T 4: 56,906,233 (GRCm39) Y160* probably null Het
Tshr T C 12: 91,500,805 (GRCm39) Y279H probably damaging Het
Ttf1 A C 2: 28,955,150 (GRCm39) K171N probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Xdh A G 17: 74,220,896 (GRCm39) V611A probably damaging Het
Zfp142 G T 1: 74,609,263 (GRCm39) H1408N probably damaging Het
Other mutations in Cpa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Cpa1 APN 6 30,642,968 (GRCm39) missense probably benign 0.05
IGL01288:Cpa1 APN 6 30,640,582 (GRCm39) missense probably damaging 1.00
IGL01402:Cpa1 APN 6 30,645,275 (GRCm39) missense possibly damaging 0.83
IGL01504:Cpa1 APN 6 30,640,720 (GRCm39) missense probably benign 0.00
IGL01980:Cpa1 APN 6 30,641,581 (GRCm39) missense possibly damaging 0.78
IGL02885:Cpa1 APN 6 30,645,169 (GRCm39) missense probably damaging 1.00
P0026:Cpa1 UTSW 6 30,640,905 (GRCm39) missense probably damaging 0.96
PIT4544001:Cpa1 UTSW 6 30,641,857 (GRCm39) missense probably benign 0.00
R0398:Cpa1 UTSW 6 30,645,250 (GRCm39) missense probably benign 0.00
R0403:Cpa1 UTSW 6 30,641,856 (GRCm39) missense probably benign 0.15
R1117:Cpa1 UTSW 6 30,645,260 (GRCm39) missense probably benign 0.16
R1631:Cpa1 UTSW 6 30,640,923 (GRCm39) missense probably damaging 1.00
R1780:Cpa1 UTSW 6 30,643,007 (GRCm39) missense probably damaging 1.00
R2202:Cpa1 UTSW 6 30,641,818 (GRCm39) missense probably damaging 1.00
R2203:Cpa1 UTSW 6 30,641,818 (GRCm39) missense probably damaging 1.00
R2204:Cpa1 UTSW 6 30,641,818 (GRCm39) missense probably damaging 1.00
R2205:Cpa1 UTSW 6 30,641,818 (GRCm39) missense probably damaging 1.00
R4838:Cpa1 UTSW 6 30,639,515 (GRCm39) missense possibly damaging 0.80
R5497:Cpa1 UTSW 6 30,640,729 (GRCm39) missense probably benign 0.42
R6306:Cpa1 UTSW 6 30,640,953 (GRCm39) missense probably damaging 1.00
R7062:Cpa1 UTSW 6 30,640,676 (GRCm39) missense probably benign 0.03
R7085:Cpa1 UTSW 6 30,643,619 (GRCm39) missense probably benign 0.10
R7564:Cpa1 UTSW 6 30,641,767 (GRCm39) missense probably damaging 0.97
R8743:Cpa1 UTSW 6 30,642,992 (GRCm39) missense probably damaging 1.00
R8785:Cpa1 UTSW 6 30,645,251 (GRCm39) missense probably benign 0.35
R9535:Cpa1 UTSW 6 30,641,847 (GRCm39) missense probably damaging 1.00
R9568:Cpa1 UTSW 6 30,640,060 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACAGTGGGATGTACCTTTGAGCC -3'
(R):5'- AAGTCCCTGAGTGTCACCTTCACC -3'

Sequencing Primer
(F):5'- ctattgggggctgtctgtg -3'
(R):5'- GAGTGTCACCTTCACCCAGAG -3'
Posted On 2014-04-13