Incidental Mutation 'IGL01571:Cpd'
ID93301
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: 0.936) question?
Stock #IGL01571
Quality Score
Status
Chromosome11
Chromosomal Location76778424-76847018 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 76782296 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1341 (Y1341F)
Ref Sequence ENSEMBL: ENSMUSP00000021201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021201]
Predicted Effect probably damaging
Transcript: ENSMUST00000021201
AA Change: Y1341F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: Y1341F

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I 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
IGL01025:Cpd APN 11 76795613 missense probably damaging 1.00
IGL01292:Cpd APN 11 76846245 missense possibly damaging 0.80
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
R8935:Cpd UTSW 11 76840469 missense probably damaging 1.00
Z1088:Cpd UTSW 11 76801746 missense probably damaging 1.00
Posted On2013-12-09