Incidental Mutation 'R4467:Cpa3'
ID 329219
Institutional Source Beutler Lab
Gene Symbol Cpa3
Ensembl Gene ENSMUSG00000001865
Gene Name carboxypeptidase A3, mast cell
Synonyms MC-CPA, mast cell carboxypeptidase A, mMC-CPA
MMRRC Submission 041724-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4467 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 20215620-20242181 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 20228817 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 155 (Y155*)
Ref Sequence ENSEMBL: ENSMUSP00000001921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001921]
AlphaFold P15089
Predicted Effect probably null
Transcript: ENSMUST00000001921
AA Change: Y155*
SMART Domains Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865
AA Change: Y155*

Pfam:Propep_M14 27 103 9.5e-21 PFAM
Zn_pept 119 400 3.77e-127 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191659
Meta Mutation Damage Score 0.9659 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases and preproprotein that is proteolytically processed to generate a mature protein product. This product is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Homozygous knockout mice for this gene exhibit impaired mast cell development. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have immature peritoneal mast cells but normal mast cell functions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 63,898,839 (GRCm38) probably benign Het
4930402H24Rik A G 2: 130,767,647 (GRCm38) I372T probably damaging Het
Atg4a-ps A G 3: 103,645,855 (GRCm38) Y57H probably damaging Het
Bag4 C T 8: 25,769,488 (GRCm38) A228T probably benign Het
Bms1 G A 6: 118,383,847 (GRCm38) T1220I probably damaging Het
Brat1 T C 5: 140,705,071 (GRCm38) probably benign Het
Casc1 A T 6: 145,183,218 (GRCm38) probably null Het
Cds2 T A 2: 132,294,446 (GRCm38) Y39* probably null Het
Chrnd T A 1: 87,197,377 (GRCm38) L384Q probably damaging Het
Crlf1 G A 8: 70,500,956 (GRCm38) W260* probably null Het
Cux1 C G 5: 136,312,722 (GRCm38) E605D probably damaging Het
Cylc2 C G 4: 51,229,651 (GRCm38) T331R unknown Het
Dmtf1 T C 5: 9,136,085 (GRCm38) N167S probably damaging Het
Dtx2 T A 5: 136,012,076 (GRCm38) W112R probably damaging Het
Elf3 A G 1: 135,256,844 (GRCm38) I138T probably damaging Het
F11 T A 8: 45,241,474 (GRCm38) I617F probably damaging Het
Fdps A T 3: 89,100,786 (GRCm38) D8E possibly damaging Het
Fzd10 C A 5: 128,601,276 (GRCm38) T20K probably benign Het
Gm9978 T A 10: 78,486,916 (GRCm38) noncoding transcript Het
Gpr158 T A 2: 21,826,999 (GRCm38) M970K probably damaging Het
Has1 C T 17: 17,843,995 (GRCm38) V461M probably benign Het
Hdac3 C T 18: 37,952,513 (GRCm38) G80D probably benign Het
Klk12 A T 7: 43,773,383 (GRCm38) R245W probably damaging Het
Lamp5 A G 2: 136,059,020 (GRCm38) I47V probably damaging Het
Olfr786 T C 10: 129,437,064 (GRCm38) I84T probably benign Het
Ovgp1 A G 3: 105,977,711 (GRCm38) D122G probably benign Het
Piezo1 T C 8: 122,486,396 (GRCm38) E1875G probably benign Het
Pih1d1 A G 7: 45,158,497 (GRCm38) M132V possibly damaging Het
Pon2 C T 6: 5,267,021 (GRCm38) A241T probably benign Het
Prkce A G 17: 86,619,911 (GRCm38) I538V possibly damaging Het
Rab36 C T 10: 75,052,043 (GRCm38) R249* probably null Het
Rps6kl1 C T 12: 85,147,808 (GRCm38) A110T probably damaging Het
Rsad1 T C 11: 94,544,530 (GRCm38) T244A probably benign Het
Slc22a7 T C 17: 46,432,510 (GRCm38) I532V probably benign Het
Slc2a7 T C 4: 150,163,274 (GRCm38) V377A possibly damaging Het
Slx4 A G 16: 3,989,055 (GRCm38) V508A possibly damaging Het
Stag2 A G X: 42,233,872 (GRCm38) S400G probably benign Het
Stat6 T G 10: 127,651,228 (GRCm38) I201M probably damaging Het
Stim2 T C 5: 54,116,194 (GRCm38) probably null Het
Tbc1d9 A G 8: 83,210,478 (GRCm38) Y63C probably damaging Het
Tctn2 T C 5: 124,620,189 (GRCm38) noncoding transcript Het
Tmem181a T A 17: 6,295,786 (GRCm38) L185H probably damaging Het
Ubr5 T A 15: 38,004,336 (GRCm38) T1282S probably damaging Het
Ufl1 A T 4: 25,254,806 (GRCm38) I550N probably damaging Het
Uty A G Y: 1,158,372 (GRCm38) V557A possibly damaging Het
Vmn1r54 T C 6: 90,269,271 (GRCm38) S56P probably damaging Het
Zfp980 G A 4: 145,702,083 (GRCm38) G461S probably benign Het
Other mutations in Cpa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Cpa3 APN 3 20,228,815 (GRCm38) missense possibly damaging 0.95
IGL02471:Cpa3 APN 3 20,228,807 (GRCm38) critical splice donor site probably null
IGL02605:Cpa3 APN 3 20,222,212 (GRCm38) missense probably benign 0.15
IGL03333:Cpa3 APN 3 20,215,828 (GRCm38) missense possibly damaging 0.52
IGL03351:Cpa3 APN 3 20,215,962 (GRCm38) missense probably benign
R0084:Cpa3 UTSW 3 20,242,101 (GRCm38) splice site probably benign
R0632:Cpa3 UTSW 3 20,225,194 (GRCm38) missense probably benign 0.00
R1017:Cpa3 UTSW 3 20,239,633 (GRCm38) missense possibly damaging 0.86
R1334:Cpa3 UTSW 3 20,222,223 (GRCm38) missense probably damaging 1.00
R1796:Cpa3 UTSW 3 20,223,227 (GRCm38) splice site probably null
R2310:Cpa3 UTSW 3 20,227,223 (GRCm38) missense probably damaging 1.00
R3945:Cpa3 UTSW 3 20,225,117 (GRCm38) missense probably damaging 1.00
R4551:Cpa3 UTSW 3 20,219,770 (GRCm38) missense probably benign 0.37
R4927:Cpa3 UTSW 3 20,222,139 (GRCm38) missense probably damaging 1.00
R5159:Cpa3 UTSW 3 20,227,223 (GRCm38) missense probably damaging 1.00
R5307:Cpa3 UTSW 3 20,227,163 (GRCm38) critical splice donor site probably null
R5564:Cpa3 UTSW 3 20,242,143 (GRCm38) missense possibly damaging 0.84
R6477:Cpa3 UTSW 3 20,239,575 (GRCm38) missense possibly damaging 0.81
R7624:Cpa3 UTSW 3 20,225,143 (GRCm38) missense possibly damaging 0.86
R8279:Cpa3 UTSW 3 20,223,314 (GRCm38) missense possibly damaging 0.70
R8302:Cpa3 UTSW 3 20,222,152 (GRCm38) missense probably damaging 1.00
R8387:Cpa3 UTSW 3 20,227,236 (GRCm38) missense probably benign 0.05
R8418:Cpa3 UTSW 3 20,222,151 (GRCm38) missense probably damaging 1.00
R9383:Cpa3 UTSW 3 20,228,881 (GRCm38) missense probably benign 0.08
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21