Incidental Mutation 'IGL01025:Cpd'
ID60232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpd
Ensembl Gene ENSMUSG00000020841
Gene Namecarboxypeptidase D
SynonymsD830034L15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.930) question?
Stock #IGL01025
Quality Score
Status
Chromosome11
Chromosomal Location76778424-76847018 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 76795613 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 963 (R963H)
Ref Sequence ENSEMBL: ENSMUSP00000021201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021201]
Predicted Effect probably damaging
Transcript: ENSMUST00000021201
AA Change: R963H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: R963H

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Zn_pept 62 471 1.71e-52 SMART
Zn_pept 502 900 2.11e-66 SMART
Zn_pept 930 1195 1.11e-42 SMART
Pfam:CarboxypepD_reg 1211 1284 3.6e-10 PFAM
transmembrane domain 1297 1319 N/A INTRINSIC
low complexity region 1363 1371 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151584
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,046,280 H1218Q possibly damaging Het
Acap3 G A 4: 155,902,219 V335M probably damaging Het
Apex1 C T 14: 50,926,254 L113F possibly damaging Het
C530008M17Rik A G 5: 76,658,074 probably benign Het
Cd33 C T 7: 43,532,905 V39M probably damaging Het
Chek2 A G 5: 110,848,670 D166G probably damaging Het
Col2a1 T C 15: 97,976,173 K1376R unknown Het
Cyp2c67 A C 19: 39,639,932 Y189* probably null Het
Dock6 T C 9: 21,811,807 E1606G possibly damaging Het
Dusp4 A T 8: 34,818,512 E309V probably benign Het
Dync2h1 A G 9: 7,162,789 I600T probably damaging Het
Fer1l4 A G 2: 156,052,185 V66A probably benign Het
Fktn T C 4: 53,737,568 L269P possibly damaging Het
Ftsj3 A G 11: 106,250,359 I645T probably damaging Het
Fxr2 A G 11: 69,643,887 H198R probably damaging Het
Fzd7 T C 1: 59,484,380 V474A probably damaging Het
Gm10295 T A 7: 71,350,658 D58V unknown Het
Gm13119 T A 4: 144,363,377 L329Q probably damaging Het
Hdlbp T C 1: 93,430,169 I337V probably benign Het
Hydin T C 8: 110,326,401 V235A probably benign Het
Igfbp4 C T 11: 99,048,243 H30Y probably damaging Het
Kcna4 T C 2: 107,296,391 V490A probably damaging Het
Kcnj13 T G 1: 87,386,978 D174A probably benign Het
Krt7 T A 15: 101,423,421 L373Q probably benign Het
Lama3 G A 18: 12,481,037 V1288I probably benign Het
Mroh9 T C 1: 163,047,866 D488G possibly damaging Het
Myh7 T C 14: 54,979,537 E1121G probably damaging Het
Myom1 A G 17: 71,077,917 N768D probably damaging Het
Naa16 T C 14: 79,384,756 T48A probably damaging Het
Naglu C T 11: 101,073,947 P287S probably benign Het
Nipbl A G 15: 8,350,455 V951A possibly damaging Het
Nlrp3 T A 11: 59,551,887 M755K probably benign Het
Nlrp4e T C 7: 23,353,161 probably benign Het
Nt5dc1 C T 10: 34,407,557 A79T possibly damaging Het
Olfr432 T C 1: 174,050,685 F104S probably damaging Het
Olfr775 A T 10: 129,250,740 I69F possibly damaging Het
Olfr911-ps1 A G 9: 38,523,733 probably benign Het
Otof A G 5: 30,384,253 L774P possibly damaging Het
Phf20l1 C T 15: 66,613,132 R322C probably damaging Het
Pkhd1 C T 1: 20,209,176 G2973R probably benign Het
Plekhg5 G T 4: 152,108,526 D613Y probably damaging Het
Ppm1h T A 10: 122,878,629 probably null Het
Prpf39 T C 12: 65,042,481 probably benign Het
Rtn3 A G 19: 7,483,041 S15P unknown Het
Slc22a28 G T 19: 8,116,908 probably benign Het
Slc4a5 T A 6: 83,262,533 L143Q probably damaging Het
Sox17 T C 1: 4,492,203 D130G possibly damaging Het
Stag1 A G 9: 100,951,657 T1108A possibly damaging Het
Sugp2 G A 8: 70,242,535 D53N probably damaging Het
Trim33 G A 3: 103,353,918 probably benign Het
Ttn A G 2: 76,789,525 V15933A probably damaging Het
Ttn A G 2: 76,799,224 I14291T probably damaging Het
Tulp3 A C 6: 128,325,884 I324S probably damaging Het
Zfhx2 T C 14: 55,064,260 E2089G probably damaging Het
Zhx1 T C 15: 58,054,679 D57G probably benign Het
Other mutations in Cpd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Cpd APN 11 76797789 missense probably benign 0.00
IGL00698:Cpd APN 11 76840444 missense possibly damaging 0.82
IGL01292:Cpd APN 11 76846245 missense possibly damaging 0.80
IGL01571:Cpd APN 11 76782296 missense probably damaging 1.00
IGL01606:Cpd APN 11 76812640 missense probably benign
IGL02283:Cpd APN 11 76840425 missense probably benign 0.19
IGL02895:Cpd APN 11 76785203 missense probably benign 0.06
IGL02965:Cpd APN 11 76790988 splice site probably benign
IGL03116:Cpd APN 11 76811713 missense probably damaging 1.00
IGL03178:Cpd APN 11 76806051 missense probably benign 0.02
PIT4280001:Cpd UTSW 11 76791024 missense probably benign 0.23
PIT4382001:Cpd UTSW 11 76797788 missense probably benign
R0050:Cpd UTSW 11 76792859 missense possibly damaging 0.94
R0054:Cpd UTSW 11 76790838 missense probably damaging 1.00
R0054:Cpd UTSW 11 76790838 missense probably damaging 1.00
R0320:Cpd UTSW 11 76840447 missense possibly damaging 0.50
R0416:Cpd UTSW 11 76785204 missense probably benign 0.13
R0556:Cpd UTSW 11 76802345 splice site probably benign
R0666:Cpd UTSW 11 76782327 missense probably damaging 1.00
R0668:Cpd UTSW 11 76784398 missense probably damaging 1.00
R1180:Cpd UTSW 11 76801753 missense possibly damaging 0.56
R1472:Cpd UTSW 11 76784398 missense probably damaging 0.98
R1518:Cpd UTSW 11 76840386 critical splice donor site probably null
R1617:Cpd UTSW 11 76846669 missense probably damaging 1.00
R1786:Cpd UTSW 11 76792798 missense probably benign 0.00
R1854:Cpd UTSW 11 76786338 missense probably damaging 1.00
R1861:Cpd UTSW 11 76784382 splice site probably benign
R2159:Cpd UTSW 11 76797641 missense probably damaging 0.96
R2205:Cpd UTSW 11 76802244 missense probably damaging 0.99
R2281:Cpd UTSW 11 76797801 missense probably benign 0.00
R2680:Cpd UTSW 11 76790999 missense probably benign
R2928:Cpd UTSW 11 76846374 missense probably benign
R2937:Cpd UTSW 11 76811859 missense probably damaging 1.00
R4133:Cpd UTSW 11 76814818 nonsense probably null
R4241:Cpd UTSW 11 76846785 missense probably benign 0.03
R4369:Cpd UTSW 11 76797711 missense possibly damaging 0.82
R4538:Cpd UTSW 11 76790999 missense probably benign
R4551:Cpd UTSW 11 76811886 missense probably damaging 1.00
R4617:Cpd UTSW 11 76840615 missense probably damaging 1.00
R4732:Cpd UTSW 11 76811794 missense probably damaging 0.99
R4733:Cpd UTSW 11 76811794 missense probably damaging 0.99
R4821:Cpd UTSW 11 76846237 missense probably benign 0.38
R4852:Cpd UTSW 11 76785150 missense probably benign 0.32
R4901:Cpd UTSW 11 76790881 missense probably damaging 1.00
R4988:Cpd UTSW 11 76814830 missense probably damaging 0.98
R4999:Cpd UTSW 11 76846222 critical splice donor site probably null
R5005:Cpd UTSW 11 76813570 missense probably damaging 1.00
R5092:Cpd UTSW 11 76811704 missense possibly damaging 0.75
R5438:Cpd UTSW 11 76791966 missense possibly damaging 0.65
R5524:Cpd UTSW 11 76797901 nonsense probably null
R5677:Cpd UTSW 11 76799825 missense probably benign
R5826:Cpd UTSW 11 76784416 nonsense probably null
R6031:Cpd UTSW 11 76790888 missense probably benign 0.00
R6031:Cpd UTSW 11 76790888 missense probably benign 0.00
R6103:Cpd UTSW 11 76799799 missense probably benign 0.00
R6257:Cpd UTSW 11 76812670 missense probably benign 0.37
R6263:Cpd UTSW 11 76846271 missense probably benign 0.00
R6485:Cpd UTSW 11 76808707 splice site probably null
R6671:Cpd UTSW 11 76795533 missense probably damaging 1.00
R6995:Cpd UTSW 11 76785055 missense probably benign 0.02
R7074:Cpd UTSW 11 76813594 missense probably damaging 1.00
R7192:Cpd UTSW 11 76814841 missense probably damaging 1.00
R7341:Cpd UTSW 11 76846953 missense unknown
R7371:Cpd UTSW 11 76846611 missense probably benign 0.25
R7380:Cpd UTSW 11 76802325 nonsense probably null
R7392:Cpd UTSW 11 76801779 missense probably damaging 1.00
R7410:Cpd UTSW 11 76782308 missense probably damaging 1.00
R7509:Cpd UTSW 11 76797876 missense probably benign 0.17
R7767:Cpd UTSW 11 76813559 missense probably benign 0.03
Z1088:Cpd UTSW 11 76801746 missense probably damaging 1.00
Posted On2013-07-11