Incidental Mutation 'R1943:Cpz'
ID216365
Institutional Source Beutler Lab
Gene Symbol Cpz
Ensembl Gene ENSMUSG00000036596
Gene Namecarboxypeptidase Z
Synonyms
MMRRC Submission 039961-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.414) question?
Stock #R1943 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location35502218-35525698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 35512428 bp
ZygosityHeterozygous
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]
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: 121,668,547 N1017S possibly damaging Het
Abca8a T C 11: 110,069,863 I610V probably benign Het
Acp5 C T 9: 22,129,604 V108M probably damaging Het
Adam23 T C 1: 63,477,757 probably null Het
Adam34 T A 8: 43,650,827 T594S possibly damaging Het
Adam34 A T 8: 43,651,815 N264K probably damaging Het
Arsa G A 15: 89,473,539 T407I probably damaging Het
Bicc1 A G 10: 71,159,523 S32P probably damaging Het
Cacna1i T A 15: 80,395,044 D1995E probably benign Het
Chst15 A T 7: 132,262,850 probably null Het
Cntnap4 T A 8: 112,815,496 F754I probably benign Het
Daw1 A T 1: 83,209,266 I371F possibly damaging Het
Dennd1b C A 1: 139,168,952 probably benign Het
Dhtkd1 T G 2: 5,932,482 Q73P probably benign Het
Dmgdh T C 13: 93,711,370 I525T probably benign Het
Dst C A 1: 34,228,369 T4964K possibly damaging Het
Ercc3 A G 18: 32,246,610 Y290C probably damaging Het
Fh1 C T 1: 175,609,778 V252I probably benign Het
Gm13199 C T 2: 5,862,706 probably benign Het
Il1rn T C 2: 24,348,599 S82P possibly damaging Het
Lama4 T C 10: 39,097,138 V1567A possibly damaging Het
Lamtor4 A G 5: 138,255,792 probably null Het
Llgl1 A G 11: 60,706,016 N148D probably benign Het
Lmo7 G T 14: 101,902,302 G774V probably damaging Het
Luzp2 A T 7: 55,264,302 K293M possibly damaging Het
Mknk1 T C 4: 115,863,026 V83A probably damaging Het
Mug2 T C 6: 122,079,639 V1181A probably benign Het
Myo16 G A 8: 10,594,905 D1746N possibly damaging Het
Olfr169 A T 16: 19,566,437 W149R probably benign Het
Olfr51 A G 11: 51,007,675 I234M probably benign Het
Osbpl3 A G 6: 50,320,074 I548T probably benign Het
Parp14 A G 16: 35,836,129 Y1676H probably damaging Het
Phtf1 A T 3: 103,993,882 K416* probably null Het
Pmp2 T C 3: 10,182,510 T40A probably benign Het
Ptpra T C 2: 130,544,104 M541T probably damaging Het
Rapgef6 A G 11: 54,657,263 I753V possibly damaging Het
Rdh14 T C 12: 10,391,162 V108A probably benign Het
Rnf38 A T 4: 44,138,748 H248Q probably damaging Het
Rsph6a A C 7: 19,074,076 Y388S probably damaging Het
Ryr2 T C 13: 11,731,723 D1981G probably benign Het
Sf3a3 A G 4: 124,715,901 K97E possibly damaging Het
Shisa9 A G 16: 12,267,756 T394A probably benign Het
Slc43a2 T A 11: 75,545,741 probably null Het
Slc45a1 A G 4: 150,644,277 F23S probably benign Het
Slc7a10 T A 7: 35,200,298 V435E probably benign Het
Snx15 A G 19: 6,128,066 Y28H probably damaging Het
Spef2 T G 15: 9,663,194 K834Q possibly damaging Het
Tdpoz2 G T 3: 93,651,923 Y247* probably null Het
Tedc2 G A 17: 24,217,949 R271W possibly damaging Het
Tfr2 C A 5: 137,578,921 H378Q probably benign Het
Tigit T A 16: 43,649,218 H170L probably benign Het
Tmem2 G A 19: 21,848,040 probably null Het
Tmem62 A T 2: 120,986,626 Q91L probably benign Het
Tmtc1 G T 6: 148,425,918 C32* probably null Het
Txndc12 G A 4: 108,856,210 V90I probably benign Het
Vmn2r93 C A 17: 18,325,801 T645K probably benign Het
Vmn2r96 C T 17: 18,586,402 T345I probably benign Het
Vps13d A T 4: 145,155,857 D1055E probably benign Het
Xirp2 A G 2: 67,512,615 I1733M probably benign Het
Zfp512b T C 2: 181,588,415 H516R probably damaging Het
Zfp606 T C 7: 12,493,688 S521P probably damaging Het
Zfp715 A T 7: 43,299,630 V302E possibly 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
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
R2892:Cpz UTSW 5 35511129 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ATCCAGCAGGCAGAATGTTG -3'
(R):5'- TGCTAAGCCCTGTCTGTGAAAC -3'

Sequencing Primer
(F):5'- GCAGAATGTTGCAGGACCAC -3'
(R):5'- ACCGTTTCTTCCTGCAGTGGAG -3'
Posted On2014-08-01