Incidental Mutation 'IGL02751:Cpa4'
ID306308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpa4
Ensembl Gene ENSMUSG00000039070
Gene Namecarboxypeptidase A4
Synonyms1110019K20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02751
Quality Score
Status
Chromosome6
Chromosomal Location30568369-30592418 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30581740 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 229 (Y229N)
Ref Sequence ENSEMBL: ENSMUSP00000048558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049251]
Predicted Effect probably damaging
Transcript: ENSMUST00000049251
AA Change: Y229N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048558
Gene: ENSMUSG00000039070
AA Change: Y229N

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Propep_M14 27 101 2.5e-20 PFAM
Zn_pept 122 403 2.3e-140 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases that could be involved in the histone hyperacetylation pathway. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Cpa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Cpa4 APN 6 30581702 missense possibly damaging 0.94
IGL01621:Cpa4 APN 6 30574416 missense probably damaging 0.97
IGL01712:Cpa4 APN 6 30590816 missense possibly damaging 0.69
IGL01970:Cpa4 APN 6 30579646 missense probably benign 0.01
R0029:Cpa4 UTSW 6 30585045 missense probably damaging 1.00
R0029:Cpa4 UTSW 6 30585045 missense probably damaging 1.00
R0116:Cpa4 UTSW 6 30579658 missense probably damaging 1.00
R0546:Cpa4 UTSW 6 30580963 missense probably damaging 1.00
R2211:Cpa4 UTSW 6 30583650 missense possibly damaging 0.89
R3849:Cpa4 UTSW 6 30590873 missense probably damaging 1.00
R4876:Cpa4 UTSW 6 30590815 missense probably benign 0.01
R4920:Cpa4 UTSW 6 30568463 critical splice donor site probably null
R6144:Cpa4 UTSW 6 30585083 missense probably damaging 1.00
R6892:Cpa4 UTSW 6 30583629 missense probably benign
R7567:Cpa4 UTSW 6 30573890 missense probably benign 0.03
R7763:Cpa4 UTSW 6 30583645 missense probably damaging 1.00
X0061:Cpa4 UTSW 6 30590963 missense probably damaging 1.00
Posted On2015-04-16