Incidental Mutation 'IGL02182:Cpz'
ID 283293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpz
Ensembl Gene ENSMUSG00000036596
Gene Name carboxypeptidase Z
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.633) question?
Stock # IGL02182
Quality Score
Status
Chromosome 5
Chromosomal Location 35659562-35682970 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35675066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 61 (Y61F)
Ref Sequence ENSEMBL: ENSMUSP00000039804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038676] [ENSMUST00000132959]
AlphaFold Q8R4V4
Predicted Effect probably damaging
Transcript: ENSMUST00000038676
AA Change: Y61F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039804
Gene: ENSMUSG00000036596
AA Change: Y61F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
FRI 47 167 7.02e-38 SMART
low complexity region 300 313 N/A INTRINSIC
Zn_pept 314 626 1.32e-44 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000132959
AA Change: Y50F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123537
Gene: ENSMUSG00000036596
AA Change: Y50F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 23 34 N/A INTRINSIC
Pfam:Fz 37 102 4.7e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Bco1 G A 8: 117,859,805 (GRCm39) A503T probably damaging Het
Clxn T A 16: 14,738,659 (GRCm39) D163E probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Pik3cg A T 12: 32,255,272 (GRCm39) D238E possibly damaging Het
Plcb3 T C 19: 6,946,988 (GRCm39) H9R probably benign Het
Ppp3cc A C 14: 70,462,473 (GRCm39) V388G probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Tas2r121 T A 6: 132,677,133 (GRCm39) I280F probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) probably benign Het
Other mutations in Cpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Cpz APN 5 35,669,891 (GRCm39) missense probably benign
IGL02290:Cpz APN 5 35,668,486 (GRCm39) missense probably benign 0.00
IGL02632:Cpz APN 5 35,669,155 (GRCm39) missense possibly damaging 0.95
PIT4810001:Cpz UTSW 5 35,665,536 (GRCm39) missense possibly damaging 0.96
R0334:Cpz UTSW 5 35,661,025 (GRCm39) missense probably damaging 0.99
R0918:Cpz UTSW 5 35,674,998 (GRCm39) missense probably damaging 1.00
R1664:Cpz UTSW 5 35,664,087 (GRCm39) missense probably damaging 1.00
R1666:Cpz UTSW 5 35,665,460 (GRCm39) critical splice donor site probably null
R1733:Cpz UTSW 5 35,675,102 (GRCm39) missense probably damaging 1.00
R1851:Cpz UTSW 5 35,659,902 (GRCm39) missense possibly damaging 0.90
R1920:Cpz UTSW 5 35,675,012 (GRCm39) missense probably damaging 1.00
R1943:Cpz UTSW 5 35,669,772 (GRCm39) missense probably damaging 1.00
R2866:Cpz UTSW 5 35,659,705 (GRCm39) missense probably benign 0.09
R2867:Cpz UTSW 5 35,659,705 (GRCm39) missense probably benign 0.09
R2867:Cpz UTSW 5 35,659,705 (GRCm39) missense probably benign 0.09
R2892:Cpz UTSW 5 35,668,473 (GRCm39) missense probably damaging 1.00
R3795:Cpz UTSW 5 35,669,093 (GRCm39) missense probably benign
R4238:Cpz UTSW 5 35,659,818 (GRCm39) missense probably benign 0.04
R4886:Cpz UTSW 5 35,664,048 (GRCm39) missense probably damaging 1.00
R4948:Cpz UTSW 5 35,674,748 (GRCm39) missense possibly damaging 0.69
R5936:Cpz UTSW 5 35,659,987 (GRCm39) missense probably benign 0.00
R6023:Cpz UTSW 5 35,669,922 (GRCm39) missense probably benign 0.34
R6035:Cpz UTSW 5 35,674,929 (GRCm39) missense probably damaging 1.00
R6035:Cpz UTSW 5 35,674,929 (GRCm39) missense probably damaging 1.00
R7346:Cpz UTSW 5 35,675,000 (GRCm39) missense probably damaging 1.00
R7431:Cpz UTSW 5 35,668,486 (GRCm39) missense probably benign 0.00
R7620:Cpz UTSW 5 35,669,194 (GRCm39) missense possibly damaging 0.82
R9040:Cpz UTSW 5 35,672,835 (GRCm39) missense possibly damaging 0.77
R9103:Cpz UTSW 5 35,675,054 (GRCm39) missense probably benign 0.00
Z1177:Cpz UTSW 5 35,669,105 (GRCm39) nonsense probably null
Posted On 2015-04-16