Incidental Mutation 'R4238:Cpz'
ID 321203
Institutional Source Beutler Lab
Gene Symbol Cpz
Ensembl Gene ENSMUSG00000036596
Gene Name carboxypeptidase Z
Synonyms
MMRRC Submission 041055-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.633) question?
Stock # R4238 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 35659562-35682970 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35659818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 609 (D609G)
Ref Sequence ENSEMBL: ENSMUSP00000039804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038676]
AlphaFold Q8R4V4
Predicted Effect probably benign
Transcript: ENSMUST00000038676
AA Change: D609G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000039804
Gene: ENSMUSG00000036596
AA Change: D609G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,603,478 (GRCm39) P93S probably benign Het
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Aar2 A G 2: 156,393,064 (GRCm39) E151G possibly damaging Het
Cacna2d4 A G 6: 119,217,669 (GRCm39) D125G probably null Het
Cdc20 C T 4: 118,290,257 (GRCm39) R468Q probably damaging Het
Cers3 T C 7: 66,423,424 (GRCm39) F87S probably damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Cndp1 G T 18: 84,636,342 (GRCm39) H391N probably benign Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fam186a T C 15: 99,841,523 (GRCm39) I1574V probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gpr158 G T 2: 21,373,362 (GRCm39) C99F probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Igkv12-44 A G 6: 69,791,868 (GRCm39) S32P probably benign Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Lin54 G A 5: 100,623,603 (GRCm39) S78L possibly damaging Het
Lzts1 G T 8: 69,588,579 (GRCm39) A459E possibly damaging Het
Mlf1 G A 3: 67,291,910 (GRCm39) S25N probably benign Het
Mrgprx2 C A 7: 48,132,738 (GRCm39) V27L probably benign Het
Myof T A 19: 37,911,456 (GRCm39) R1505* probably null Het
Or4k15 T C 14: 50,364,889 (GRCm39) V285A probably benign Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Psg20 A T 7: 18,418,434 (GRCm39) V111D probably damaging Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Simc1 C G 13: 54,674,073 (GRCm39) S807* probably null Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Snrpa A T 7: 26,892,293 (GRCm39) probably null Het
Sval2 T A 6: 41,837,283 (GRCm39) L4H probably damaging Het
Tax1bp1 C T 6: 52,743,036 (GRCm39) Q808* probably null Het
Tnfrsf11a T C 1: 105,754,962 (GRCm39) Y345H probably damaging Het
Trpa1 A G 1: 14,954,340 (GRCm39) L853P probably damaging Het
Trpm3 A G 19: 22,956,002 (GRCm39) R1155G probably damaging Het
Ube4a T C 9: 44,851,297 (GRCm39) E739G probably damaging Het
Zfp433 A C 10: 81,556,046 (GRCm39) T182P probably 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
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
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'- AGCTTCAGAGGCTGTGTATG -3'
(R):5'- TCCCATATCGTCATTGCTCAGG -3'

Sequencing Primer
(F):5'- CAGGCTGTGGAGGTGGACATC -3'
(R):5'- GCCCCTGGCTATTCCAAG -3'
Posted On 2015-06-12