Incidental Mutation 'R0666:Cpd'
ID 218834
Institutional Source Beutler Lab
Gene Symbol Cpd
Ensembl Gene ENSMUSG00000020841
Gene Name carboxypeptidase D
Synonyms D830034L15Rik
MMRRC Submission 038851-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R0666 (G1)
Quality Score 53
Status Validated
Chromosome 11
Chromosomal Location 76669250-76737844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76673153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1331 (F1331L)
Ref Sequence ENSEMBL: ENSMUSP00000021201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021201]
AlphaFold O89001
Predicted Effect probably damaging
Transcript: ENSMUST00000021201
AA Change: F1331L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: F1331L

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
Meta Mutation Damage Score 0.0946 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (89/89)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 52,958,591 (GRCm39) V782E probably damaging Het
Atg9a A G 1: 75,161,734 (GRCm39) L604P probably damaging Het
Atp1a3 T C 7: 24,689,974 (GRCm39) I482V probably benign Het
Bltp2 T G 11: 78,178,813 (GRCm39) M2026R probably damaging Het
Bltp2 T A 11: 78,168,038 (GRCm39) L1491* probably null Het
Ccdc18 T G 5: 108,311,530 (GRCm39) V412G probably benign Het
Ccn6 T C 10: 39,027,285 (GRCm39) R316G probably benign Het
Cct6a A G 5: 129,871,449 (GRCm39) noncoding transcript Het
Clpx A G 9: 65,217,507 (GRCm39) N25S probably damaging Het
Cnpy2 T A 10: 128,162,894 (GRCm39) C171* probably null Het
Cntnap3 C T 13: 64,905,211 (GRCm39) D857N probably damaging Het
Col5a1 A G 2: 27,922,697 (GRCm39) Y255C probably damaging Het
Coro7 A T 16: 4,449,775 (GRCm39) F638Y possibly damaging Het
Csmd1 A T 8: 16,119,063 (GRCm39) I1842N possibly damaging Het
Dgkg T A 16: 22,381,480 (GRCm39) D490V probably damaging Het
Dnah9 A T 11: 65,976,284 (GRCm39) M1255K probably benign Het
E2f1 A G 2: 154,402,849 (GRCm39) V306A probably benign Het
Entpd1 A G 19: 40,648,350 (GRCm39) probably benign Het
Esrrb T A 12: 86,552,676 (GRCm39) I222N probably benign Het
Flt4 G T 11: 49,516,274 (GRCm39) A126S possibly damaging Het
Galnt11 C T 5: 25,457,145 (GRCm39) T237I possibly damaging Het
Galnt2l A T 8: 122,997,727 (GRCm39) probably benign Het
Gbf1 A G 19: 46,250,983 (GRCm39) probably benign Het
H2-T9 T C 17: 36,438,726 (GRCm39) T222A possibly damaging Het
Herc1 T A 9: 66,392,170 (GRCm39) probably benign Het
Hsph1 T C 5: 149,554,967 (GRCm39) Y105C probably damaging Het
Il23r T C 6: 67,411,664 (GRCm39) T358A probably benign Het
Il2ra C T 2: 11,647,884 (GRCm39) probably benign Het
Kbtbd4 G T 2: 90,744,459 (GRCm39) probably benign Het
Kcnt1 A G 2: 25,781,255 (GRCm39) probably benign Het
Kng2 A G 16: 22,815,872 (GRCm39) probably benign Het
Lap3 C T 5: 45,669,270 (GRCm39) T473I possibly damaging Het
Lrrk2 T C 15: 91,641,273 (GRCm39) probably null Het
Map1s A G 8: 71,366,696 (GRCm39) N534D possibly damaging Het
Mtg1 G A 7: 139,724,257 (GRCm39) V122I probably benign Het
Myadm T A 7: 3,345,865 (GRCm39) I209K probably damaging Het
Ntsr2 G A 12: 16,703,981 (GRCm39) V75I probably benign Het
Or4b1b A T 2: 90,112,212 (GRCm39) S236T probably damaging Het
Or8u10 G A 2: 85,915,557 (GRCm39) A188V probably benign Het
Pfn1 T C 11: 70,545,192 (GRCm39) T39A probably benign Het
Pipox T A 11: 77,774,651 (GRCm39) K144M probably benign Het
Plekhh1 G A 12: 79,115,889 (GRCm39) E811K probably damaging Het
Pnpla3 T A 15: 84,063,506 (GRCm39) W295R probably benign Het
Prkacb T A 3: 146,457,273 (GRCm39) T136S probably damaging Het
Ralbp1 T A 17: 66,161,124 (GRCm39) N473I probably benign Het
Rbp4 G A 19: 38,106,908 (GRCm39) T127M probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps3a1 G A 3: 86,045,424 (GRCm39) probably benign Het
Scg3 G T 9: 75,551,222 (GRCm39) Y429* probably null Het
Shisal2b G T 13: 104,994,862 (GRCm39) T95K possibly damaging Het
Spag5 T C 11: 78,204,222 (GRCm39) S492P probably damaging Het
St7 T A 6: 17,934,238 (GRCm39) M540K probably damaging Het
Stxbp3 C A 3: 108,712,618 (GRCm39) V281F possibly damaging Het
Sun5 A G 2: 153,700,968 (GRCm39) V242A possibly damaging Het
Susd5 G T 9: 113,924,852 (GRCm39) R245L possibly damaging Het
Syne2 A G 12: 75,969,787 (GRCm39) E954G probably damaging Het
Synpo2 A T 3: 122,907,708 (GRCm39) V536E probably damaging Het
Tas2r140 T C 6: 133,032,405 (GRCm39) I118V probably benign Het
Tbx18 C A 9: 87,606,462 (GRCm39) V228L probably benign Het
Tdrd9 T A 12: 111,974,014 (GRCm39) probably benign Het
Tektl1 C A 10: 78,586,381 (GRCm39) L223F probably benign Het
Tg T C 15: 66,609,370 (GRCm39) M310T probably benign Het
Ticam2 T A 18: 46,693,718 (GRCm39) D123V probably damaging Het
Timm23 A G 14: 31,920,993 (GRCm39) probably benign Het
Tinag C T 9: 76,912,969 (GRCm39) R280H probably benign Het
Topbp1 G A 9: 103,186,011 (GRCm39) R51K probably benign Het
Tor1b A G 2: 30,843,925 (GRCm39) I121V probably damaging Het
Tpmt C A 13: 47,185,930 (GRCm39) G148V probably damaging Het
Tubb1 A G 2: 174,299,548 (GRCm39) E410G probably damaging Het
Ubash3b C A 9: 40,958,360 (GRCm39) V7L possibly damaging Het
Ube2o C T 11: 116,433,661 (GRCm39) E686K probably damaging Het
Unc13d T A 11: 115,960,318 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,601 (GRCm39) M135L probably benign Het
Xkr8 T C 4: 132,459,649 (GRCm39) Y43C probably damaging Het
Zc3h4 T A 7: 16,168,697 (GRCm39) N935K unknown Het
Zc3h7a G A 16: 10,974,167 (GRCm39) probably benign Het
Zfp84 C T 7: 29,476,276 (GRCm39) H323Y probably damaging Het
Zfp873 G T 10: 81,896,595 (GRCm39) S442I possibly damaging Het
Zfp938 A G 10: 82,061,606 (GRCm39) L338P 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGGAAGTTCAAAACTGCCTGTGAC -3'
(R):5'- TTGTCTGCCAGGTCTACCACAGAG -3'

Sequencing Primer
(F):5'- ACTGCCTGTGACATTCAGAG -3'
(R):5'- GGTCTACCACAGAGGATCATC -3'
Posted On 2014-08-21