Incidental Mutation 'R4988:Cpd'
ID 385961
Institutional Source Beutler Lab
Gene Symbol Cpd
Ensembl Gene ENSMUSG00000020841
Gene Name carboxypeptidase D
Synonyms D830034L15Rik
MMRRC Submission 042582-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R4988 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 76669250-76737844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76705656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 359 (S359P)
Ref Sequence ENSEMBL: ENSMUSP00000021201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021201]
AlphaFold O89001
Predicted Effect probably damaging
Transcript: ENSMUST00000021201
AA Change: S359P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: S359P

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
Meta Mutation Damage Score 0.2926 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 G A 1: 130,670,447 (GRCm39) G223E probably damaging Het
Abcb11 T C 2: 69,154,236 (GRCm39) N110S probably benign Het
Acaca T A 11: 84,154,121 (GRCm39) H947Q probably damaging Het
Akap13 T C 7: 75,380,276 (GRCm39) M2202T probably damaging Het
Amy2b T C 3: 113,058,550 (GRCm39) noncoding transcript Het
Arhgef4 A T 1: 34,762,535 (GRCm39) H597L unknown Het
Asgr2 A G 11: 69,988,665 (GRCm39) I119M probably benign Het
Casc3 T G 11: 98,712,700 (GRCm39) probably null Het
Cbr1b A G 16: 93,426,884 (GRCm39) T162A probably benign Het
Ccdc7b T A 8: 129,872,013 (GRCm39) M239K possibly damaging Het
Cdc27 A G 11: 104,416,950 (GRCm39) S334P possibly damaging Het
Ces1c T C 8: 93,827,336 (GRCm39) E476G probably damaging Het
Clec3a T A 8: 115,144,827 (GRCm39) M1K probably null Het
Col9a1 T C 1: 24,224,273 (GRCm39) S152P unknown Het
Ctnnal1 A T 4: 56,847,854 (GRCm39) L95* probably null Het
Dhx57 T C 17: 80,558,827 (GRCm39) D1044G probably damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Efcab5 A G 11: 77,028,078 (GRCm39) S418P probably damaging Het
Elp5 T C 11: 69,870,668 (GRCm39) D59G probably benign Het
Fam210a G A 18: 68,409,218 (GRCm39) R31C probably benign Het
Farp1 A G 14: 121,513,019 (GRCm39) T792A probably damaging Het
Fmc1 A T 6: 38,511,917 (GRCm39) Y37F probably benign Het
Gm10717 T A 9: 3,026,368 (GRCm39) L72M probably benign Het
Gm1758 A T 16: 14,320,067 (GRCm39) noncoding transcript Het
Gm4553 G A 7: 141,718,729 (GRCm39) probably benign Het
Gpr156 A G 16: 37,768,577 (GRCm39) T33A possibly damaging Het
Hhat A T 1: 192,339,602 (GRCm39) probably benign Het
Hint2 T C 4: 43,654,953 (GRCm39) I59V possibly damaging Het
Hps4 C T 5: 112,526,019 (GRCm39) probably benign Het
Hsd17b8 A G 17: 34,246,262 (GRCm39) F137S probably damaging Het
Klrc2 A T 6: 129,633,426 (GRCm39) C192S probably benign Het
Map1a C T 2: 121,133,531 (GRCm39) T1211I probably benign Het
Mtus1 T C 8: 41,537,578 (GRCm39) N46S probably benign Het
Myo18a T C 11: 77,736,347 (GRCm39) probably null Het
Nbas T C 12: 13,458,266 (GRCm39) S1258P probably benign Het
Ndst1 C T 18: 60,836,005 (GRCm39) G426D probably damaging Het
Nepro A G 16: 44,554,905 (GRCm39) E327G possibly damaging Het
Nutm2 C T 13: 50,626,379 (GRCm39) T322I possibly damaging Het
Or10s1 G A 9: 39,985,961 (GRCm39) M123I probably damaging Het
Or1j18 T C 2: 36,624,996 (GRCm39) I221T possibly damaging Het
Or2m13 A T 16: 19,225,860 (GRCm39) M302K probably benign Het
Or6c66 T C 10: 129,461,930 (GRCm39) probably null Het
Pcdhb15 G A 18: 37,608,855 (GRCm39) A696T probably damaging Het
Polm C A 11: 5,787,618 (GRCm39) R45L probably damaging Het
Pon3 G A 6: 5,254,582 (GRCm39) R27* probably null Het
Proser1 T C 3: 53,387,046 (GRCm39) I845T probably damaging Het
Rassf8 A G 6: 145,762,870 (GRCm39) N406D possibly damaging Het
Skint10 A T 4: 112,586,069 (GRCm39) C182* probably null Het
Slc6a19 C T 13: 73,833,959 (GRCm39) W366* probably null Het
St7 T C 6: 17,934,225 (GRCm39) F470L probably damaging Het
St8sia4 T A 1: 95,519,522 (GRCm39) Y322F possibly damaging Het
Trav8n-2 A T 14: 53,975,814 (GRCm39) probably benign Het
Vwa8 A T 14: 79,435,723 (GRCm39) H1811L probably benign Het
Zfp14 G A 7: 29,737,482 (GRCm39) T501I probably benign 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
IGL03116:Cpd APN 11 76,702,539 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCTTGATGCACTCTAGTCGATC -3'
(R):5'- CACACAGAGTTCCCAGTGTG -3'

Sequencing Primer
(F):5'- TGATGCACTCTAGTCGATCAAAAAC -3'
(R):5'- CAGAGTTCCCAGTGTGTATAAACC -3'
Posted On 2016-05-10