Incidental Mutation 'IGL03116:Cpd'
ID 419409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpd
Ensembl Gene ENSMUSG00000020841
Gene Name carboxypeptidase D
Synonyms D830034L15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # IGL03116
Quality Score
Status
Chromosome 11
Chromosomal Location 76669250-76737844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76702539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 610 (Y610N)
Ref Sequence ENSEMBL: ENSMUSP00000021201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021201]
AlphaFold O89001
Predicted Effect probably damaging
Transcript: ENSMUST00000021201
AA Change: Y610N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: Y610N

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik T C X: 12,535,892 (GRCm39) probably benign Het
9530068E07Rik A G 11: 52,294,331 (GRCm39) I199V probably benign Het
Aasdh A T 5: 77,049,936 (GRCm39) probably null Het
Aatk T C 11: 119,907,577 (GRCm39) I84V probably benign Het
Adcy1 A G 11: 7,100,071 (GRCm39) H727R probably benign Het
Aff2 T C X: 68,878,092 (GRCm39) V626A probably benign Het
Ano2 C A 6: 125,957,134 (GRCm39) Y634* probably null Het
Apob C A 12: 8,066,350 (GRCm39) Q4407K probably damaging Het
Asz1 T C 6: 18,076,642 (GRCm39) probably benign Het
Atp2b4 T G 1: 133,656,506 (GRCm39) T715P possibly damaging Het
Brip1 G T 11: 85,955,735 (GRCm39) S926* probably null Het
Dennd4c T C 4: 86,707,057 (GRCm39) probably benign Het
Dido1 G A 2: 180,312,772 (GRCm39) T1041I probably damaging Het
Dpp8 A T 9: 64,973,749 (GRCm39) T658S probably damaging Het
Efcab3 T A 11: 104,612,359 (GRCm39) S661T probably benign Het
Fcer1a G A 1: 173,049,128 (GRCm39) Q172* probably null Het
Frem3 A G 8: 81,339,435 (GRCm39) E576G possibly damaging Het
Gcsam T C 16: 45,440,431 (GRCm39) F136S possibly damaging Het
Glmn T G 5: 107,698,949 (GRCm39) T430P probably damaging Het
Gm5934 T C X: 24,340,931 (GRCm39) N194S probably benign Het
Gpatch11 T A 17: 79,151,282 (GRCm39) L231* probably null Het
Hibadh A T 6: 52,525,917 (GRCm39) N244K probably damaging Het
Kank2 A G 9: 21,684,060 (GRCm39) V723A probably damaging Het
Kcnn2 A T 18: 45,788,273 (GRCm39) D192V probably damaging Het
Ksr2 G A 5: 117,846,022 (GRCm39) E630K probably benign Het
Lmod3 T C 6: 97,224,156 (GRCm39) H555R possibly damaging Het
Mycs A G X: 5,380,922 (GRCm39) F53L probably damaging Het
Ndufa10 G A 1: 92,392,109 (GRCm39) Q215* probably null Het
Ninl C T 2: 150,806,139 (GRCm39) A361T probably damaging Het
Pbsn A G X: 76,891,624 (GRCm39) C58R probably damaging Het
Pcsk1 T A 13: 75,280,335 (GRCm39) L720Q probably damaging Het
Prss12 T C 3: 123,299,925 (GRCm39) F679L probably benign Het
Sohlh1 C T 2: 25,735,660 (GRCm39) probably null Het
Sspo T C 6: 48,471,035 (GRCm39) F701L probably benign Het
Tdp1 T C 12: 99,921,290 (GRCm39) S609P probably benign Het
Tmtc4 T A 14: 123,165,044 (GRCm39) N605I probably benign Het
Tnc G A 4: 63,932,270 (GRCm39) P715S probably damaging Het
Ubn2 T C 6: 38,468,834 (GRCm39) S1181P probably damaging Het
Ubr4 T C 4: 139,206,892 (GRCm39) probably benign Het
Vmn1r46 T C 6: 89,953,898 (GRCm39) F249S probably benign Het
Zfp382 T C 7: 29,833,614 (GRCm39) S422P probably damaging Het
Other mutations in Cpd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Cpd APN 11 76,688,615 (GRCm39) missense probably benign 0.00
IGL00698:Cpd APN 11 76,731,270 (GRCm39) missense possibly damaging 0.82
IGL01025:Cpd APN 11 76,686,439 (GRCm39) missense probably damaging 1.00
IGL01292:Cpd APN 11 76,737,071 (GRCm39) missense possibly damaging 0.80
IGL01571:Cpd APN 11 76,673,122 (GRCm39) missense probably damaging 1.00
IGL01606:Cpd APN 11 76,703,466 (GRCm39) missense probably benign
IGL02283:Cpd APN 11 76,731,251 (GRCm39) missense probably benign 0.19
IGL02895:Cpd APN 11 76,676,029 (GRCm39) missense probably benign 0.06
IGL02965:Cpd APN 11 76,681,814 (GRCm39) splice site probably benign
IGL03178:Cpd APN 11 76,696,877 (GRCm39) missense probably benign 0.02
PIT4280001:Cpd UTSW 11 76,681,850 (GRCm39) missense probably benign 0.23
PIT4382001:Cpd UTSW 11 76,688,614 (GRCm39) missense probably benign
R0050:Cpd UTSW 11 76,683,685 (GRCm39) missense possibly damaging 0.94
R0054:Cpd UTSW 11 76,681,664 (GRCm39) missense probably damaging 1.00
R0054:Cpd UTSW 11 76,681,664 (GRCm39) missense probably damaging 1.00
R0320:Cpd UTSW 11 76,731,273 (GRCm39) missense possibly damaging 0.50
R0416:Cpd UTSW 11 76,676,030 (GRCm39) missense probably benign 0.13
R0556:Cpd UTSW 11 76,693,171 (GRCm39) splice site probably benign
R0666:Cpd UTSW 11 76,673,153 (GRCm39) missense probably damaging 1.00
R0668:Cpd UTSW 11 76,675,224 (GRCm39) missense probably damaging 1.00
R1180:Cpd UTSW 11 76,692,579 (GRCm39) missense possibly damaging 0.56
R1472:Cpd UTSW 11 76,675,224 (GRCm39) missense probably damaging 0.98
R1518:Cpd UTSW 11 76,731,212 (GRCm39) critical splice donor site probably null
R1617:Cpd UTSW 11 76,737,495 (GRCm39) missense probably damaging 1.00
R1786:Cpd UTSW 11 76,683,624 (GRCm39) missense probably benign 0.00
R1854:Cpd UTSW 11 76,677,164 (GRCm39) missense probably damaging 1.00
R1861:Cpd UTSW 11 76,675,208 (GRCm39) splice site probably benign
R2159:Cpd UTSW 11 76,688,467 (GRCm39) missense probably damaging 0.96
R2205:Cpd UTSW 11 76,693,070 (GRCm39) missense probably damaging 0.99
R2281:Cpd UTSW 11 76,688,627 (GRCm39) missense probably benign 0.00
R2680:Cpd UTSW 11 76,681,825 (GRCm39) missense probably benign
R2928:Cpd UTSW 11 76,737,200 (GRCm39) missense probably benign
R2937:Cpd UTSW 11 76,702,685 (GRCm39) missense probably damaging 1.00
R4133:Cpd UTSW 11 76,705,644 (GRCm39) nonsense probably null
R4241:Cpd UTSW 11 76,737,611 (GRCm39) missense probably benign 0.03
R4369:Cpd UTSW 11 76,688,537 (GRCm39) missense possibly damaging 0.82
R4538:Cpd UTSW 11 76,681,825 (GRCm39) missense probably benign
R4551:Cpd UTSW 11 76,702,712 (GRCm39) missense probably damaging 1.00
R4617:Cpd UTSW 11 76,731,441 (GRCm39) missense probably damaging 1.00
R4732:Cpd UTSW 11 76,702,620 (GRCm39) missense probably damaging 0.99
R4733:Cpd UTSW 11 76,702,620 (GRCm39) missense probably damaging 0.99
R4821:Cpd UTSW 11 76,737,063 (GRCm39) missense probably benign 0.38
R4852:Cpd UTSW 11 76,675,976 (GRCm39) missense probably benign 0.32
R4901:Cpd UTSW 11 76,681,707 (GRCm39) missense probably damaging 1.00
R4988:Cpd UTSW 11 76,705,656 (GRCm39) missense probably damaging 0.98
R4999:Cpd UTSW 11 76,737,048 (GRCm39) critical splice donor site probably null
R5005:Cpd UTSW 11 76,704,396 (GRCm39) missense probably damaging 1.00
R5092:Cpd UTSW 11 76,702,530 (GRCm39) missense possibly damaging 0.75
R5438:Cpd UTSW 11 76,682,792 (GRCm39) missense possibly damaging 0.65
R5524:Cpd UTSW 11 76,688,727 (GRCm39) nonsense probably null
R5677:Cpd UTSW 11 76,690,651 (GRCm39) missense probably benign
R5826:Cpd UTSW 11 76,675,242 (GRCm39) nonsense probably null
R6031:Cpd UTSW 11 76,681,714 (GRCm39) missense probably benign 0.00
R6031:Cpd UTSW 11 76,681,714 (GRCm39) missense probably benign 0.00
R6103:Cpd UTSW 11 76,690,625 (GRCm39) missense probably benign 0.00
R6257:Cpd UTSW 11 76,703,496 (GRCm39) missense probably benign 0.37
R6263:Cpd UTSW 11 76,737,097 (GRCm39) missense probably benign 0.00
R6485:Cpd UTSW 11 76,699,533 (GRCm39) splice site probably null
R6671:Cpd UTSW 11 76,686,359 (GRCm39) missense probably damaging 1.00
R6995:Cpd UTSW 11 76,675,881 (GRCm39) missense probably benign 0.02
R7074:Cpd UTSW 11 76,704,420 (GRCm39) missense probably damaging 1.00
R7192:Cpd UTSW 11 76,705,667 (GRCm39) missense probably damaging 1.00
R7341:Cpd UTSW 11 76,737,779 (GRCm39) missense unknown
R7371:Cpd UTSW 11 76,737,437 (GRCm39) missense probably benign 0.25
R7380:Cpd UTSW 11 76,693,151 (GRCm39) nonsense probably null
R7392:Cpd UTSW 11 76,692,605 (GRCm39) missense probably damaging 1.00
R7410:Cpd UTSW 11 76,673,134 (GRCm39) missense probably damaging 1.00
R7509:Cpd UTSW 11 76,688,702 (GRCm39) missense probably benign 0.17
R7767:Cpd UTSW 11 76,704,385 (GRCm39) missense probably benign 0.03
R8935:Cpd UTSW 11 76,731,295 (GRCm39) missense probably damaging 1.00
R9151:Cpd UTSW 11 76,675,275 (GRCm39) missense possibly damaging 0.54
R9172:Cpd UTSW 11 76,675,252 (GRCm39) missense probably benign 0.21
R9173:Cpd UTSW 11 76,699,649 (GRCm39) missense probably damaging 0.97
R9310:Cpd UTSW 11 76,705,607 (GRCm39) nonsense probably null
R9666:Cpd UTSW 11 76,693,133 (GRCm39) missense probably benign 0.02
Z1088:Cpd UTSW 11 76,692,572 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02