Incidental Mutation 'IGL01712:Cpa4'
ID104836
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 #IGL01712
Quality Score
Status
Chromosome6
Chromosomal Location30568369-30592418 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30590816 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 371 (D371G)
Ref Sequence ENSEMBL: ENSMUSP00000048558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049251]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049251
AA Change: D371G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048558
Gene: ENSMUSG00000039070
AA Change: D371G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Atp11a T A 8: 12,851,138 I989K probably benign Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P119Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Grid2 A T 6: 64,665,915 D887V possibly damaging Het
Gtpbp6 A T 5: 110,104,379 I429N probably benign Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L1cam T C X: 73,864,438 Y169C probably damaging Het
L3mbtl3 A T 10: 26,276,235 M821K probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D32E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Onecut2 T A 18: 64,386,602 S478T probably damaging Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Sppl2a C T 2: 126,904,903 probably benign Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tmbim7 A G 5: 3,670,074 T116A probably damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I84N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging 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
IGL01970:Cpa4 APN 6 30579646 missense probably benign 0.01
IGL02751:Cpa4 APN 6 30581740 missense probably damaging 1.00
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
R8033:Cpa4 UTSW 6 30590800 missense probably benign
X0061:Cpa4 UTSW 6 30590963 missense probably damaging 1.00
Z1177:Cpa4 UTSW 6 30574403 missense possibly damaging 0.85
Posted On2014-01-21