Incidental Mutation 'IGL03178:Cpd'
ID412092
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: 0.929) question?
Stock #IGL03178
Quality Score
Status
Chromosome11
Chromosomal Location76778424-76847018 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76806051 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 683 (N683K)
Ref Sequence ENSEMBL: ENSMUSP00000021201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021201]
Predicted Effect probably benign
Transcript: ENSMUST00000021201
AA Change: N683K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: N683K

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: ENSMUST00000132796
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,614,245 probably null Het
Alpk1 A T 3: 127,680,221 L711* probably null Het
Arfgef3 A T 10: 18,613,225 W1291R probably damaging Het
Arhgef10l A G 4: 140,544,428 V545A possibly damaging Het
Best3 A G 10: 116,988,779 Y50C probably damaging Het
C1qtnf2 C A 11: 43,490,989 D179E probably damaging Het
C87977 A G 4: 144,208,251 probably null Het
Cdc40 A T 10: 40,847,989 S268T probably benign Het
Ces1a C T 8: 93,020,889 G505R probably damaging Het
D430041D05Rik A T 2: 104,221,211 I767N probably damaging Het
Diras1 G T 10: 81,022,377 F13L possibly damaging Het
Dnah7c A G 1: 46,467,365 N201D probably benign Het
Dpy19l3 A T 7: 35,729,729 Y9* probably null Het
Ect2 T A 3: 27,148,860 I79L probably benign Het
Eif2b4 A T 5: 31,187,653 I550N probably damaging Het
Enpp2 T A 15: 54,866,006 M476L probably benign Het
Gm20425 A G 9: 103,210,552 Y654H probably damaging Het
Gm5884 T C 6: 128,645,727 noncoding transcript Het
Gm7257 T G 9: 36,432,836 S38R probably benign Het
Gtf3c6 A T 10: 40,249,722 D166E probably benign Het
Gucy2c A T 6: 136,729,239 probably benign Het
Inpp5b A G 4: 124,785,254 T485A probably benign Het
Insrr A G 3: 87,802,541 probably null Het
Lig3 T C 11: 82,789,722 probably benign Het
Lmo7 T A 14: 101,929,260 Y1047* probably null Het
Map4k4 A G 1: 39,986,693 E281G possibly damaging Het
Mmel1 A G 4: 154,890,854 T431A possibly damaging Het
Myh10 T C 11: 68,699,413 V58A probably benign Het
Myo1e A T 9: 70,286,949 H14L possibly damaging Het
Myo1g C T 11: 6,512,181 V594M probably damaging Het
Nr4a2 G A 2: 57,110,766 R226C probably damaging Het
Obox3 A G 7: 15,627,277 L21P probably benign Het
Olfr1383 A G 11: 49,523,990 D89G possibly damaging Het
Phlpp1 T A 1: 106,392,388 I1371N probably damaging Het
Proser3 G A 7: 30,543,609 A181V probably damaging Het
Pudp A T 18: 50,568,401 L87Q probably benign Het
Siglecf T C 7: 43,358,739 S559P probably damaging Het
Slc22a16 A G 10: 40,573,760 H85R probably benign Het
Spata32 T C 11: 103,210,762 D15G probably benign Het
Spata5 T C 3: 37,578,783 L846P probably damaging Het
Szt2 G A 4: 118,382,689 A1899V unknown Het
Tcrg-V7 C A 13: 19,178,041 probably benign Het
Tomm40 C T 7: 19,701,834 V324M probably damaging Het
Ttll4 C T 1: 74,680,408 P25S probably damaging Het
Vps13b G T 15: 35,869,300 C2650F probably damaging Het
Wdr83os T C 8: 85,081,241 L40P probably damaging Het
Zfp977 T C 7: 42,582,648 R64G probably damaging 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
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
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 On2016-08-02