Incidental Mutation 'IGL02471:Cpa3'
ID294752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpa3
Ensembl Gene ENSMUSG00000001865
Gene Namecarboxypeptidase A3, mast cell
SynonymsMC-CPA, mast cell carboxypeptidase A, mMC-CPA
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02471
Quality Score
Status
Chromosome3
Chromosomal Location20215620-20242181 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 20228807 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001921]
Predicted Effect probably null
Transcript: ENSMUST00000001921
SMART Domains Protein: ENSMUSP00000001921
Gene: ENSMUSG00000001865

DomainStartEndE-ValueType
Pfam:Propep_M14 27 103 9.5e-21 PFAM
Zn_pept 119 400 3.77e-127 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191659
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,258,198 H2378N probably benign Het
Btaf1 C A 19: 37,000,192 A1470E probably damaging Het
Ccdc110 A G 8: 45,941,756 D228G probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn18 T C 9: 99,696,075 D205G probably benign Het
Clip2 T C 5: 134,518,022 T231A probably benign Het
Cltc A G 11: 86,718,034 V723A probably damaging Het
Cyfip2 T G 11: 46,200,803 T1097P possibly damaging Het
Dnah9 T A 11: 65,947,618 R667* probably null Het
Dock10 T C 1: 80,515,622 E1878G probably damaging Het
Ermap G A 4: 119,179,963 H353Y probably damaging Het
Etfa A T 9: 55,486,700 probably null Het
F5 C T 1: 164,174,291 P188S probably damaging Het
Foxq1 G A 13: 31,559,343 E143K possibly damaging Het
Gsr C T 8: 33,682,584 probably benign Het
Hebp1 T A 6: 135,155,276 Y31F probably benign Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Lamb1 T A 12: 31,320,908 D1319E probably damaging Het
Lrp5 A T 19: 3,602,408 V1154E probably benign Het
Manba G A 3: 135,507,008 probably benign Het
Mknk2 A T 10: 80,668,121 F319I probably damaging Het
Mup6 A T 4: 60,003,971 probably benign Het
Nalcn T C 14: 123,323,314 T784A probably benign Het
Nt5dc1 T C 10: 34,403,725 E107G probably benign Het
Olfr1497 G A 19: 13,795,225 P129S probably damaging Het
Olfr688 T A 7: 105,289,045 F317L probably benign Het
Olfr745 A T 14: 50,642,757 I159F probably benign Het
Phldb1 T C 9: 44,711,233 E41G probably damaging Het
Ptk2 T C 15: 73,298,187 D309G probably benign Het
Rab11fip5 A G 6: 85,348,225 S367P probably damaging Het
Rb1cc1 T A 1: 6,240,051 N224K probably benign Het
Rchy1 A T 5: 91,957,546 C65* probably null Het
Rgs18 T C 1: 144,774,621 D56G probably benign Het
Rtraf A C 14: 19,812,228 L197R probably damaging Het
Slc44a5 G T 3: 154,256,576 W382L probably damaging Het
Snx24 C T 18: 53,385,169 probably benign Het
Sphkap T C 1: 83,276,176 D1284G probably damaging Het
Tmem54 A G 4: 129,108,318 M53V probably benign Het
Trip6 G A 5: 137,310,356 P414S probably benign Het
Vmn1r38 A G 6: 66,776,767 Y122H probably benign Het
Wapl T A 14: 34,691,920 N246K possibly damaging Het
Zfp12 G A 5: 143,244,796 G293R probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp446 T G 7: 12,982,254 V209G probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Cpa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Cpa3 APN 3 20228815 missense possibly damaging 0.95
IGL02605:Cpa3 APN 3 20222212 missense probably benign 0.15
IGL03333:Cpa3 APN 3 20215828 missense possibly damaging 0.52
IGL03351:Cpa3 APN 3 20215962 missense probably benign
R0084:Cpa3 UTSW 3 20242101 splice site probably benign
R0632:Cpa3 UTSW 3 20225194 missense probably benign 0.00
R1017:Cpa3 UTSW 3 20239633 missense possibly damaging 0.86
R1334:Cpa3 UTSW 3 20222223 missense probably damaging 1.00
R1796:Cpa3 UTSW 3 20223227 splice site probably null
R2310:Cpa3 UTSW 3 20227223 missense probably damaging 1.00
R3945:Cpa3 UTSW 3 20225117 missense probably damaging 1.00
R4467:Cpa3 UTSW 3 20228817 nonsense probably null
R4551:Cpa3 UTSW 3 20219770 missense probably benign 0.37
R4927:Cpa3 UTSW 3 20222139 missense probably damaging 1.00
R5159:Cpa3 UTSW 3 20227223 missense probably damaging 1.00
R5307:Cpa3 UTSW 3 20227163 critical splice donor site probably null
R5564:Cpa3 UTSW 3 20242143 missense possibly damaging 0.84
R6477:Cpa3 UTSW 3 20239575 missense possibly damaging 0.81
R7624:Cpa3 UTSW 3 20225143 missense possibly damaging 0.86
R8279:Cpa3 UTSW 3 20223314 missense possibly damaging 0.70
R8302:Cpa3 UTSW 3 20222152 missense probably damaging 1.00
R8387:Cpa3 UTSW 3 20227236 missense probably benign 0.05
Posted On2015-04-16