Incidental Mutation 'R0681:Dpp3'
ID 208427
Institutional Source Beutler Lab
Gene Symbol Dpp3
Ensembl Gene ENSMUSG00000063904
Gene Name dipeptidylpeptidase 3
Synonyms 4930533O14Rik
MMRRC Submission 038866-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.555) question?
Stock # R0681 (G1)
Quality Score 30
Status Validated
Chromosome 19
Chromosomal Location 4957257-4978315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4964682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 542 (N542D)
Ref Sequence ENSEMBL: ENSMUSP00000025851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025851]
AlphaFold Q99KK7
Predicted Effect probably damaging
Transcript: ENSMUST00000025851
AA Change: N542D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025851
Gene: ENSMUSG00000063904
AA Change: N542D

DomainStartEndE-ValueType
Pfam:Peptidase_M49 143 704 1.3e-236 PFAM
Meta Mutation Damage Score 0.8675 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,676,649 (GRCm39) D1341Y probably damaging Het
Ahdc1 T C 4: 132,792,827 (GRCm39) F1356S possibly damaging Het
Cdk13 A G 13: 17,895,882 (GRCm39) probably benign Het
Cfhr1 A T 1: 139,485,249 (GRCm39) S66T probably damaging Het
Cldn6 C A 17: 23,900,167 (GRCm39) Q44K probably damaging Het
Cntnap5c T C 17: 58,612,550 (GRCm39) V863A possibly damaging Het
Col6a4 T A 9: 105,944,343 (GRCm39) K1044* probably null Het
Cyb561d1 A G 3: 108,106,583 (GRCm39) V212A probably benign Het
Cyp1b1 A G 17: 80,021,275 (GRCm39) S156P probably damaging Het
Dock7 G A 4: 98,904,941 (GRCm39) H645Y probably damaging Het
Fastkd3 C T 13: 68,740,047 (GRCm39) probably benign Het
Galnt10 T A 11: 57,660,366 (GRCm39) V268D probably damaging Het
Grb14 G T 2: 64,747,631 (GRCm39) A10E probably damaging Het
Grin2c A G 11: 115,140,479 (GRCm39) V1213A probably benign Het
Grip1 C T 10: 119,846,135 (GRCm39) T570I probably damaging Het
Hif1an T C 19: 44,551,762 (GRCm39) Y71H probably benign Het
Hsd17b11 T A 5: 104,151,072 (GRCm39) I221L probably benign Het
Htra1 A T 7: 130,581,027 (GRCm39) probably benign Het
Igfn1 T C 1: 135,891,591 (GRCm39) E2308G possibly damaging Het
Mapk9 T A 11: 49,760,072 (GRCm39) S129T probably damaging Het
Med22 T C 2: 26,800,391 (GRCm39) T13A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mtus1 A T 8: 41,446,554 (GRCm39) L489Q probably damaging Het
Naprt G A 15: 75,765,481 (GRCm39) P120S probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Ogfod2 A G 5: 124,250,907 (GRCm39) E62G probably null Het
Or13a1 A T 6: 116,471,361 (GRCm39) S264C probably damaging Het
Or5b12b A G 19: 12,861,910 (GRCm39) T222A probably damaging Het
Or5b12b T C 19: 12,861,443 (GRCm39) L66P probably damaging Het
Palm A C 10: 79,655,327 (GRCm39) T362P probably benign Het
Pcare T G 17: 72,056,509 (GRCm39) H1056P probably benign Het
Pcdh8 T C 14: 80,007,400 (GRCm39) T388A probably benign Het
Pclo A G 5: 14,725,332 (GRCm39) I1397V unknown Het
Per1 A G 11: 68,992,027 (GRCm39) E127G probably damaging Het
Plekha1 T C 7: 130,502,353 (GRCm39) V30A possibly damaging Het
Pramel24 A T 4: 143,454,622 (GRCm39) T307S probably benign Het
Rab26 A G 17: 24,746,940 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,750 (GRCm39) D999G possibly damaging Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rrp1b T C 17: 32,279,369 (GRCm39) S677P probably damaging Het
Scaf4 G A 16: 90,046,582 (GRCm39) P485S unknown Het
Scn5a A T 9: 119,368,706 (GRCm39) M273K probably damaging Het
Sec22a C T 16: 35,181,926 (GRCm39) probably null Het
Slc10a6 C A 5: 103,760,315 (GRCm39) V227F possibly damaging Het
Slc39a3 C G 10: 80,869,565 (GRCm39) E31Q probably benign Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
Tdrd7 T A 4: 46,016,879 (GRCm39) M673K probably benign Het
Trim8 C A 19: 46,503,532 (GRCm39) S361R possibly damaging Het
Ucp1 T A 8: 84,021,936 (GRCm39) M256K possibly damaging Het
Vmn1r46 A T 6: 89,953,946 (GRCm39) D265V probably damaging Het
Zbtb5 T C 4: 44,993,787 (GRCm39) I532M probably damaging Het
Other mutations in Dpp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Dpp3 APN 19 4,963,920 (GRCm39) missense probably benign 0.00
IGL01657:Dpp3 APN 19 4,968,332 (GRCm39) missense possibly damaging 0.72
IGL02105:Dpp3 APN 19 4,966,799 (GRCm39) missense probably damaging 1.00
IGL02251:Dpp3 APN 19 4,968,343 (GRCm39) missense probably benign
IGL02669:Dpp3 APN 19 4,973,710 (GRCm39) critical splice donor site probably null
IGL02739:Dpp3 APN 19 4,973,756 (GRCm39) missense probably damaging 1.00
IGL02851:Dpp3 APN 19 4,973,159 (GRCm39) missense probably benign 0.06
R0046:Dpp3 UTSW 19 4,964,671 (GRCm39) missense probably damaging 0.99
R0046:Dpp3 UTSW 19 4,964,671 (GRCm39) missense probably damaging 0.99
R0053:Dpp3 UTSW 19 4,973,154 (GRCm39) missense probably damaging 0.99
R0505:Dpp3 UTSW 19 4,964,682 (GRCm39) missense probably damaging 1.00
R1163:Dpp3 UTSW 19 4,964,951 (GRCm39) nonsense probably null
R1200:Dpp3 UTSW 19 4,973,157 (GRCm39) missense probably benign
R1761:Dpp3 UTSW 19 4,971,177 (GRCm39) missense probably benign 0.37
R1931:Dpp3 UTSW 19 4,967,888 (GRCm39) splice site probably benign
R2255:Dpp3 UTSW 19 4,968,347 (GRCm39) missense probably benign
R2424:Dpp3 UTSW 19 4,957,735 (GRCm39) nonsense probably null
R3718:Dpp3 UTSW 19 4,973,093 (GRCm39) critical splice donor site probably null
R3727:Dpp3 UTSW 19 4,973,213 (GRCm39) missense probably benign 0.30
R5080:Dpp3 UTSW 19 4,965,108 (GRCm39) missense probably benign 0.00
R5587:Dpp3 UTSW 19 4,968,295 (GRCm39) missense probably damaging 0.98
R5786:Dpp3 UTSW 19 4,968,350 (GRCm39) missense possibly damaging 0.53
R5986:Dpp3 UTSW 19 4,968,385 (GRCm39) missense probably benign 0.18
R6128:Dpp3 UTSW 19 4,972,420 (GRCm39) missense probably benign 0.05
R6989:Dpp3 UTSW 19 4,971,195 (GRCm39) missense probably damaging 1.00
R7019:Dpp3 UTSW 19 4,966,817 (GRCm39) missense possibly damaging 0.83
R7070:Dpp3 UTSW 19 4,968,356 (GRCm39) missense probably benign 0.24
R7100:Dpp3 UTSW 19 4,968,069 (GRCm39) missense probably damaging 1.00
R7265:Dpp3 UTSW 19 4,973,797 (GRCm39) missense probably damaging 1.00
R7495:Dpp3 UTSW 19 4,967,941 (GRCm39) missense probably damaging 1.00
R7916:Dpp3 UTSW 19 4,967,052 (GRCm39) nonsense probably null
R9051:Dpp3 UTSW 19 4,973,172 (GRCm39) missense probably benign
R9266:Dpp3 UTSW 19 4,964,686 (GRCm39) nonsense probably null
R9452:Dpp3 UTSW 19 4,973,750 (GRCm39) missense probably benign 0.05
R9524:Dpp3 UTSW 19 4,959,897 (GRCm39) missense possibly damaging 0.78
Z1176:Dpp3 UTSW 19 4,972,369 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACTAAAGACCCTGAGGACTCGC -3'
(R):5'- ATTCAGCACCATTGCCTCCAGC -3'

Sequencing Primer
(F):5'- aggcaccactaccccac -3'
(R):5'- TTGCCTCCAGCTACGAAGAG -3'
Posted On 2014-06-25