Incidental Mutation 'R2892:Cpz'
ID 260121
Institutional Source Beutler Lab
Gene Symbol Cpz
Ensembl Gene ENSMUSG00000036596
Gene Name carboxypeptidase Z
Synonyms
MMRRC Submission 040480-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.693) question?
Stock # R2892 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 35502218-35525698 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35511129 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 379 (V379A)
Ref Sequence ENSEMBL: ENSMUSP00000039804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038676]
AlphaFold Q8R4V4
Predicted Effect probably damaging
Transcript: ENSMUST00000038676
AA Change: V379A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039804
Gene: ENSMUSG00000036596
AA Change: V379A

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,594,317 D232G probably damaging Het
Ank2 T C 3: 127,248,243 probably null Het
Atp6v0a4 T C 6: 38,053,017 E704G probably benign Het
Bbx A G 16: 50,224,741 Y378H probably damaging Het
Carmil3 T C 14: 55,498,313 V574A probably damaging Het
Cyp4f15 A G 17: 32,686,208 D55G probably benign Het
Dcun1d2 A T 8: 13,278,649 I86N probably damaging Het
Defa30 A T 8: 21,134,663 M1L probably damaging Het
Fzd8 G T 18: 9,214,514 G532V probably damaging Het
Gcfc2 T C 6: 81,956,913 F717S possibly damaging Het
Gckr T C 5: 31,326,472 V563A probably benign Het
Ighv1-24 T G 12: 114,773,059 K74Q probably benign Het
Kcnj3 A T 2: 55,447,015 I298F probably damaging Het
Miga2 A T 2: 30,378,294 probably null Het
Mmrn2 T G 14: 34,396,630 F158V probably benign Het
Mug1 G A 6: 121,840,070 V33M possibly damaging Het
Myom1 T C 17: 71,034,653 S136P probably damaging Het
Nadk A G 4: 155,587,360 N232S possibly damaging Het
Olfr815 A G 10: 129,901,940 Y257H possibly damaging Het
Olfr845 A G 9: 19,338,738 T93A probably benign Het
Pcnx2 A G 8: 125,891,058 S153P probably damaging Het
Pde8b T C 13: 95,034,259 D633G probably damaging Het
Pik3ap1 G A 19: 41,376,061 A73V probably benign Het
Plrg1 C A 3: 83,071,240 Q438K probably damaging Het
Plxna4 A G 6: 32,517,037 Y215H probably damaging Het
Rapsn A T 2: 91,036,824 D157V probably damaging Het
Rock1 G A 18: 10,072,863 Q1161* probably null Het
Snrnp200 T C 2: 127,231,777 L1365P probably damaging Het
Srcap T C 7: 127,539,065 S1136P probably damaging Het
Trim80 A G 11: 115,448,023 T560A possibly damaging Het
Ttll2 T C 17: 7,352,699 probably null Het
Usp8 A T 2: 126,758,155 Q998L probably damaging Het
Vpreb3 C T 10: 75,943,222 probably benign Het
Zfp82 G A 7: 30,056,439 T406I probably damaging Het
Other mutations in Cpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Cpz APN 5 35512547 missense probably benign
IGL02182:Cpz APN 5 35517722 missense probably damaging 1.00
IGL02290:Cpz APN 5 35511142 missense probably benign 0.00
IGL02632:Cpz APN 5 35511811 missense possibly damaging 0.95
PIT4810001:Cpz UTSW 5 35508192 missense possibly damaging 0.96
R0334:Cpz UTSW 5 35503681 missense probably damaging 0.99
R0918:Cpz UTSW 5 35517654 missense probably damaging 1.00
R1664:Cpz UTSW 5 35506743 missense probably damaging 1.00
R1666:Cpz UTSW 5 35508116 critical splice donor site probably null
R1733:Cpz UTSW 5 35517758 missense probably damaging 1.00
R1851:Cpz UTSW 5 35502558 missense possibly damaging 0.90
R1920:Cpz UTSW 5 35517668 missense probably damaging 1.00
R1943:Cpz UTSW 5 35512428 missense probably damaging 1.00
R2866:Cpz UTSW 5 35502361 missense probably benign 0.09
R2867:Cpz UTSW 5 35502361 missense probably benign 0.09
R2867:Cpz UTSW 5 35502361 missense probably benign 0.09
R3795:Cpz UTSW 5 35511749 missense probably benign
R4238:Cpz UTSW 5 35502474 missense probably benign 0.04
R4886:Cpz UTSW 5 35506704 missense probably damaging 1.00
R4948:Cpz UTSW 5 35517404 missense possibly damaging 0.69
R5936:Cpz UTSW 5 35502643 missense probably benign 0.00
R6023:Cpz UTSW 5 35512578 missense probably benign 0.34
R6035:Cpz UTSW 5 35517585 missense probably damaging 1.00
R6035:Cpz UTSW 5 35517585 missense probably damaging 1.00
R7346:Cpz UTSW 5 35517656 missense probably damaging 1.00
R7431:Cpz UTSW 5 35511142 missense probably benign 0.00
R7620:Cpz UTSW 5 35511850 missense possibly damaging 0.82
R9040:Cpz UTSW 5 35515491 missense possibly damaging 0.77
R9103:Cpz UTSW 5 35517710 missense probably benign 0.00
Z1177:Cpz UTSW 5 35511761 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTAGGAAGACTGCTCTCTGCTTG -3'
(R):5'- GAACTGTAGTGGCTGGACAG -3'

Sequencing Primer
(F):5'- CATCTCCTGGATGTGAGGGAAGC -3'
(R):5'- AGTGGCTGGACAGGAGTTC -3'
Posted On 2015-01-23