Incidental Mutation 'R1617:Cpd'
ID 254700
Institutional Source Beutler Lab
Gene Symbol Cpd
Ensembl Gene ENSMUSG00000020841
Gene Name carboxypeptidase D
Synonyms D830034L15Rik
MMRRC Submission 039654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R1617 (G1)
Quality Score 43
Status Validated
Chromosome 11
Chromosomal Location 76669250-76737844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76737495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 100 (W100R)
Ref Sequence ENSEMBL: ENSMUSP00000021201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021201]
AlphaFold O89001
Predicted Effect probably damaging
Transcript: ENSMUST00000021201
AA Change: W100R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: W100R

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 0.7694 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency 98% (83/85)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,603,473 (GRCm39) I91K probably damaging Het
AAdacl4fm3 T G 4: 144,441,961 (GRCm39) T97P probably damaging Het
Adamts16 T A 13: 70,946,154 (GRCm39) M254L probably benign Het
Adgre5 T C 8: 84,456,806 (GRCm39) I192V possibly damaging Het
Akr1c21 G A 13: 4,626,351 (GRCm39) probably null Het
Amz2 A G 11: 109,324,850 (GRCm39) T245A probably benign Het
Aqp7 A C 4: 41,036,109 (GRCm39) M43R probably null Het
Arid3c G A 4: 41,725,103 (GRCm39) P315S probably damaging Het
Birc2 A T 9: 7,826,952 (GRCm39) Y345N possibly damaging Het
Blnk T C 19: 40,950,807 (GRCm39) T115A probably benign Het
Col5a1 T C 2: 27,842,393 (GRCm39) S423P unknown Het
Corin A T 5: 72,661,295 (GRCm39) F66Y possibly damaging Het
Cpsf1 A T 15: 76,486,570 (GRCm39) Y296* probably null Het
Cyp2d34 T C 15: 82,505,046 (GRCm39) T5A probably benign Het
Dhrs7c G T 11: 67,705,903 (GRCm39) V219L possibly damaging Het
Dnah3 T C 7: 119,689,169 (GRCm39) M82V probably benign Het
Dnah9 A G 11: 65,786,747 (GRCm39) S3629P probably damaging Het
Fbrs T C 7: 127,086,883 (GRCm39) L33P probably damaging Het
Fhip1b A G 7: 105,034,269 (GRCm39) L454P probably damaging Het
Galnt11 T A 5: 25,463,891 (GRCm39) S388T probably damaging Het
Glmp A G 3: 88,235,426 (GRCm39) probably benign Het
Gm9894 A G 13: 67,920,845 (GRCm39) noncoding transcript Het
Grik3 A G 4: 125,584,985 (GRCm39) M618V probably benign Het
Hmcn1 T C 1: 150,620,778 (GRCm39) D1144G probably damaging Het
Hnrnpa2b1 T C 6: 51,443,378 (GRCm39) K161R possibly damaging Het
Kmt2c T C 5: 25,580,925 (GRCm39) I523V probably benign Het
Lmln C T 16: 32,937,500 (GRCm39) P622S probably damaging Het
Lmtk2 A G 5: 144,110,680 (GRCm39) T467A probably damaging Het
Map1s T A 8: 71,366,095 (GRCm39) N333K probably damaging Het
Mgat4d C A 8: 84,092,340 (GRCm39) A242D probably damaging Het
Muc5b T A 7: 141,417,261 (GRCm39) Y3402* probably null Het
Myo3b G T 2: 70,111,562 (GRCm39) A922S probably benign Het
Nphs1 T C 7: 30,181,956 (GRCm39) V1183A probably benign Het
Nup160 T A 2: 90,509,843 (GRCm39) C31S probably benign Het
Or4c58 T C 2: 89,674,598 (GRCm39) T240A probably benign Het
Or8k25 A T 2: 86,244,035 (GRCm39) Y120* probably null Het
Pcdhb5 T G 18: 37,454,455 (GRCm39) Y278* probably null Het
Pkhd1 T A 1: 20,268,274 (GRCm39) E3368V possibly damaging Het
Pla2g6 A G 15: 79,173,341 (GRCm39) M676T probably benign Het
Plcb1 A T 2: 135,179,361 (GRCm39) N590Y probably damaging Het
Prr12 G A 7: 44,699,018 (GRCm39) probably benign Het
Psat1 A G 19: 15,901,666 (GRCm39) probably null Het
Ptpn9 T G 9: 56,934,692 (GRCm39) I152S possibly damaging Het
Ric8b T A 10: 84,783,475 (GRCm39) F111Y probably damaging Het
Slc44a3 G A 3: 121,254,914 (GRCm39) A568V probably benign Het
Smarcd3 T G 5: 24,800,192 (GRCm39) R213S probably damaging Het
Snx13 T C 12: 35,136,895 (GRCm39) Y119H probably damaging Het
Socs2 C A 10: 95,248,943 (GRCm39) E57* probably null Het
Spred1 C T 2: 117,005,828 (GRCm39) P197S probably benign Het
Srek1 G T 13: 103,880,112 (GRCm39) P482Q unknown Het
Tapbp A G 17: 34,139,405 (GRCm39) T134A probably benign Het
Tarbp1 T C 8: 127,171,007 (GRCm39) I998V possibly damaging Het
Tbcel G T 9: 42,372,589 (GRCm39) probably benign Het
Tec A G 5: 72,939,448 (GRCm39) F189S probably damaging Het
Tmprss11g A T 5: 86,647,422 (GRCm39) Y39N probably damaging Het
Tmtc1 A G 6: 148,256,902 (GRCm39) probably benign Het
Trpa1 A G 1: 14,943,899 (GRCm39) I1070T probably damaging Het
Trpm2 T A 10: 77,771,709 (GRCm39) probably null Het
Ttc21b G T 2: 66,056,379 (GRCm39) T669K probably benign Het
Ttll4 G A 1: 74,718,560 (GRCm39) R137H probably benign Het
Ubqln3 G T 7: 103,792,067 (GRCm39) L8I possibly damaging Het
Ung C A 5: 114,269,415 (GRCm39) N42K probably benign Het
Upp1 T C 11: 9,084,865 (GRCm39) S195P probably damaging Het
Urb1 T C 16: 90,557,340 (GRCm39) E1762G possibly damaging Het
Utp11 T C 4: 124,579,904 (GRCm39) K35E probably damaging Het
Vav3 A T 3: 109,418,294 (GRCm39) K305I probably damaging Het
Vmn1r197 A G 13: 22,512,498 (GRCm39) I140V possibly damaging Het
Vmn2r-ps158 A G 7: 42,673,503 (GRCm39) E187G probably benign Het
Zfc3h1 A G 10: 115,226,827 (GRCm39) T295A probably benign Het
Zfp268 A T 4: 145,350,877 (GRCm39) probably benign Het
Zfp46 T C 4: 136,017,823 (GRCm39) L219P probably damaging Het
Zfp493 G A 13: 67,931,999 (GRCm39) V33M probably damaging Het
Zfp92 T C X: 72,463,466 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- TTCAGGCTGGGCAGCAAATACACG -3'
(R):5'- GTGACACCCAAGCATTCAAGGCTAC -3'

Sequencing Primer
(F):5'- TTGAGCAGGCGGACCAG -3'
(R):5'- gctgctgctgctgctac -3'
Posted On 2014-12-12