Incidental Mutation 'R1943:Cpz'
ID 216365
Institutional Source Beutler Lab
Gene Symbol Cpz
Ensembl Gene ENSMUSG00000036596
Gene Name carboxypeptidase Z
Synonyms
MMRRC Submission 039961-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.633) question?
Stock # R1943 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 35659562-35682970 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35669772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 302 (E302K)
Ref Sequence ENSEMBL: ENSMUSP00000039804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038676]
AlphaFold Q8R4V4
Predicted Effect probably damaging
Transcript: ENSMUST00000038676
AA Change: E302K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039804
Gene: ENSMUSG00000036596
AA Change: E302K

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,506 (GRCm39) N1017S possibly damaging Het
Abca8a T C 11: 109,960,689 (GRCm39) I610V probably benign Het
Acp5 C T 9: 22,040,900 (GRCm39) V108M probably damaging Het
Adam23 T C 1: 63,516,916 (GRCm39) probably null Het
Adam34 T A 8: 44,103,864 (GRCm39) T594S possibly damaging Het
Adam34 A T 8: 44,104,852 (GRCm39) N264K probably damaging Het
Arsa G A 15: 89,357,742 (GRCm39) T407I probably damaging Het
Bicc1 A G 10: 70,995,353 (GRCm39) S32P probably damaging Het
Cacna1i T A 15: 80,279,245 (GRCm39) D1995E probably benign Het
Cemip2 G A 19: 21,825,404 (GRCm39) probably null Het
Chst15 A T 7: 131,864,579 (GRCm39) probably null Het
Cntnap4 T A 8: 113,542,128 (GRCm39) F754I probably benign Het
Daw1 A T 1: 83,186,987 (GRCm39) I371F possibly damaging Het
Dennd1b C A 1: 139,096,690 (GRCm39) probably benign Het
Dhtkd1 T G 2: 5,937,293 (GRCm39) Q73P probably benign Het
Dmgdh T C 13: 93,847,878 (GRCm39) I525T probably benign Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc3 A G 18: 32,379,663 (GRCm39) Y290C probably damaging Het
Fh1 C T 1: 175,437,344 (GRCm39) V252I probably benign Het
Gm13199 C T 2: 5,867,517 (GRCm39) probably benign Het
Il1rn T C 2: 24,238,611 (GRCm39) S82P possibly damaging Het
Lama4 T C 10: 38,973,134 (GRCm39) V1567A possibly damaging Het
Lamtor4 A G 5: 138,254,054 (GRCm39) probably null Het
Llgl1 A G 11: 60,596,842 (GRCm39) N148D probably benign Het
Lmo7 G T 14: 102,139,738 (GRCm39) G774V probably damaging Het
Luzp2 A T 7: 54,914,050 (GRCm39) K293M possibly damaging Het
Mknk1 T C 4: 115,720,223 (GRCm39) V83A probably damaging Het
Mug2 T C 6: 122,056,598 (GRCm39) V1181A probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Or1ad8 A G 11: 50,898,502 (GRCm39) I234M probably benign Het
Or2aj4 A T 16: 19,385,187 (GRCm39) W149R probably benign Het
Osbpl3 A G 6: 50,297,054 (GRCm39) I548T probably benign Het
Parp14 A G 16: 35,656,499 (GRCm39) Y1676H probably damaging Het
Phtf1 A T 3: 103,901,198 (GRCm39) K416* probably null Het
Pmp2 T C 3: 10,247,570 (GRCm39) T40A probably benign Het
Ptpra T C 2: 130,386,024 (GRCm39) M541T probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rdh14 T C 12: 10,441,162 (GRCm39) V108A probably benign Het
Rnf38 A T 4: 44,138,748 (GRCm39) H248Q probably damaging Het
Rsph6a A C 7: 18,808,001 (GRCm39) Y388S probably damaging Het
Ryr2 T C 13: 11,746,609 (GRCm39) D1981G probably benign Het
Sf3a3 A G 4: 124,609,694 (GRCm39) K97E possibly damaging Het
Shisa9 A G 16: 12,085,620 (GRCm39) T394A probably benign Het
Slc43a2 T A 11: 75,436,567 (GRCm39) probably null Het
Slc45a1 A G 4: 150,728,734 (GRCm39) F23S probably benign Het
Slc7a10 T A 7: 34,899,723 (GRCm39) V435E probably benign Het
Snx15 A G 19: 6,178,096 (GRCm39) Y28H probably damaging Het
Spef2 T G 15: 9,663,280 (GRCm39) K834Q possibly damaging Het
Tdpoz2 G T 3: 93,559,230 (GRCm39) Y247* probably null Het
Tedc2 G A 17: 24,436,923 (GRCm39) R271W possibly damaging Het
Tfr2 C A 5: 137,577,183 (GRCm39) H378Q probably benign Het
Tigit T A 16: 43,469,581 (GRCm39) H170L probably benign Het
Tmem62 A T 2: 120,817,107 (GRCm39) Q91L probably benign Het
Tmtc1 G T 6: 148,327,416 (GRCm39) C32* probably null Het
Txndc12 G A 4: 108,713,407 (GRCm39) V90I probably benign Het
Vmn2r93 C A 17: 18,546,063 (GRCm39) T645K probably benign Het
Vmn2r96 C T 17: 18,806,664 (GRCm39) T345I probably benign Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Xirp2 A G 2: 67,342,959 (GRCm39) I1733M probably benign Het
Zfp512b T C 2: 181,230,208 (GRCm39) H516R probably damaging Het
Zfp606 T C 7: 12,227,615 (GRCm39) S521P probably damaging Het
Zfp715 A T 7: 42,949,054 (GRCm39) V302E possibly damaging Het
Other mutations in Cpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Cpz APN 5 35,669,891 (GRCm39) missense probably benign
IGL02182:Cpz APN 5 35,675,066 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATCCAGCAGGCAGAATGTTG -3'
(R):5'- TGCTAAGCCCTGTCTGTGAAAC -3'

Sequencing Primer
(F):5'- GCAGAATGTTGCAGGACCAC -3'
(R):5'- ACCGTTTCTTCCTGCAGTGGAG -3'
Posted On 2014-08-01