Incidental Mutation 'IGL01621:Cpa4'
ID 92561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpa4
Ensembl Gene ENSMUSG00000039070
Gene Name carboxypeptidase A4
Synonyms 1110019K20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01621
Quality Score
Status
Chromosome 6
Chromosomal Location 30568369-30592418 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30574416 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 68 (V68A)
Ref Sequence ENSEMBL: ENSMUSP00000048558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049251]
AlphaFold Q6P8K8
Predicted Effect probably damaging
Transcript: ENSMUST00000049251
AA Change: V68A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048558
Gene: ENSMUSG00000039070
AA Change: V68A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124153
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 63,898,383 T154I possibly damaging Het
4933434E20Rik T A 3: 90,064,502 M56K possibly damaging Het
5730559C18Rik C A 1: 136,219,775 A402S probably damaging Het
A730017C20Rik A G 18: 59,062,386 M1V probably null Het
Abca6 A G 11: 110,184,708 L1319S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Aloxe3 A G 11: 69,130,013 N188S probably benign Het
Ap1s1 G A 5: 137,041,804 R119* probably null Het
Apc2 T G 10: 80,306,201 L318R probably damaging Het
Atg101 A G 15: 101,287,095 S33G possibly damaging Het
Atp8a2 A T 14: 60,015,868 probably benign Het
Bpifb9b C A 2: 154,316,951 probably null Het
Braf A T 6: 39,646,853 probably benign Het
Cabp5 A G 7: 13,401,264 D43G probably damaging Het
Cfap46 T C 7: 139,606,607 N2462S unknown Het
Cit C T 5: 115,992,603 probably benign Het
Cyp2j5 T C 4: 96,629,554 I474V probably benign Het
Dennd1a C A 2: 37,844,809 D49Y probably damaging Het
Dlg5 T C 14: 24,148,221 D1525G probably damaging Het
Dnajc18 C T 18: 35,680,840 R292H probably benign Het
Dync2h1 A G 9: 7,140,897 probably null Het
E2f6 A G 12: 16,825,368 D268G probably benign Het
Evi2b T A 11: 79,516,300 T150S probably damaging Het
F13b A G 1: 139,503,851 D53G probably benign Het
Fbxo38 G A 18: 62,522,524 probably benign Het
Flnb C T 14: 7,950,470 P2596L probably damaging Het
Fyco1 A G 9: 123,827,182 probably benign Het
Gm13023 T C 4: 143,793,932 F85L probably benign Het
Gm21759 A G 5: 8,179,775 probably benign Het
Gtse1 A G 15: 85,875,082 N597S probably benign Het
Hcn3 G T 3: 89,147,723 S739Y probably damaging Het
Ighv9-4 T A 12: 114,299,992 N107I probably damaging Het
Iqub T C 6: 24,446,212 K738E probably benign Het
Itga6 A T 2: 71,825,656 D308V probably benign Het
Klf12 T C 14: 100,023,149 Y48C probably damaging Het
Klhdc9 A G 1: 171,358,816 *351Q probably null Het
Krt40 A T 11: 99,542,868 N97K probably damaging Het
Lrit1 A C 14: 37,060,155 T262P probably damaging Het
Mcoln1 T C 8: 3,510,910 Y411H probably damaging Het
Mfsd4a A G 1: 132,054,143 S149P probably benign Het
Mipep A G 14: 60,796,165 probably benign Het
Mslnl A G 17: 25,743,667 probably benign Het
N4bp2 A T 5: 65,790,924 H299L probably damaging Het
Nbn C T 4: 15,965,221 P190S probably benign Het
Nos1 T A 5: 117,945,884 I1253N probably damaging Het
Nup210 G T 6: 91,030,117 F572L probably damaging Het
Olfr1381 T C 11: 49,552,137 L130P probably damaging Het
Olfr370 T C 8: 83,541,618 V158A probably benign Het
Olfr390 T C 11: 73,787,277 F113S probably damaging Het
P4htm T A 9: 108,583,736 E106V probably damaging Het
Pcdhb20 C T 18: 37,504,807 H129Y possibly damaging Het
Pdcd6ip T C 9: 113,685,422 E240G probably benign Het
Pex5l T C 3: 33,014,961 probably null Het
Plcd1 T C 9: 119,076,178 N181S probably damaging Het
Plekhg6 G T 6: 125,372,099 L412M probably damaging Het
Ppp1r13b T A 12: 111,835,092 Q386L possibly damaging Het
Prpf40b A G 15: 99,310,045 probably benign Het
Rdh11 C T 12: 79,186,413 probably null Het
Ripor3 A T 2: 167,997,252 S110T probably damaging Het
Sec24d G A 3: 123,294,158 probably null Het
Secisbp2l T C 2: 125,773,211 S165G probably benign Het
Shank1 C T 7: 44,342,465 A698V unknown Het
Shank1 T C 7: 44,351,599 M914T unknown Het
Slc22a3 T C 17: 12,458,492 Q263R probably benign Het
Smc1a C A X: 152,036,129 Q647K probably damaging Het
Sohlh1 A G 2: 25,846,861 probably benign Het
Tacc2 C A 7: 130,729,768 T484K probably damaging Het
Ubr4 G T 4: 139,440,783 E2825* probably null Het
Wbp2nl G A 15: 82,308,605 M163I probably benign Het
Zfp69 T A 4: 120,931,500 K206M probably damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in Cpa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Cpa4 APN 6 30581702 missense possibly damaging 0.94
IGL01712:Cpa4 APN 6 30590816 missense possibly damaging 0.69
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
R8679:Cpa4 UTSW 6 30585159 missense probably damaging 1.00
R9094:Cpa4 UTSW 6 30574394 missense possibly damaging 0.94
X0061:Cpa4 UTSW 6 30590963 missense probably damaging 1.00
Z1177:Cpa4 UTSW 6 30574403 missense possibly damaging 0.85
Posted On 2013-12-09