Incidental Mutation 'IGL01160:Dpep2'
ID53711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpep2
Ensembl Gene ENSMUSG00000115067
Gene Namedipeptidase 2
SynonymsF630103D06Rik, MBD-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL01160
Quality Score
Status
Chromosome8
Chromosomal Location105984945-105996423 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 105986444 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 440 (V440M)
Ref Sequence ENSEMBL: ENSMUSP00000154250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034373] [ENSMUST00000117555] [ENSMUST00000142898] [ENSMUST00000227363]
Predicted Effect probably benign
Transcript: ENSMUST00000034373
SMART Domains Protein: ENSMUSP00000034373
Gene: ENSMUSG00000053687

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Peptidase_M19 80 401 3.4e-112 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000081998
AA Change: V449M
SMART Domains Protein: ENSMUSP00000080659
Gene: ENSMUSG00000115067
AA Change: V449M

DomainStartEndE-ValueType
low complexity region 97 113 N/A INTRINSIC
Pfam:Peptidase_M19 166 501 1.2e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083297
Predicted Effect probably benign
Transcript: ENSMUST00000117555
SMART Domains Protein: ENSMUSP00000113877
Gene: ENSMUSG00000053687

DomainStartEndE-ValueType
Pfam:Peptidase_M19 1 308 5.7e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212917
Predicted Effect possibly damaging
Transcript: ENSMUST00000227363
AA Change: V440M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Ccdc117 T C 11: 5,531,532 S200G probably benign Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Cstf2 T A X: 134,060,729 probably benign Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
F8 A T X: 75,288,061 M741K probably damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Gm3238 C A 10: 77,770,883 probably benign Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Irf3 C A 7: 44,998,796 D28E possibly damaging Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr1309 A G 2: 111,983,933 L47P probably damaging Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Sidt2 A G 9: 45,942,726 L647P probably damaging Het
Slc7a8 A G 14: 54,735,124 V280A probably benign Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in Dpep2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Dpep2 APN 8 105988821 missense probably damaging 1.00
IGL02071:Dpep2 APN 8 105985144 missense probably benign 0.01
IGL02441:Dpep2 APN 8 105985091 missense probably benign 0.00
IGL02517:Dpep2 APN 8 105988756 missense probably damaging 1.00
IGL02836:Dpep2 APN 8 105990595 critical splice donor site probably null
R0504:Dpep2 UTSW 8 105989988 missense probably benign 0.29
R1866:Dpep2 UTSW 8 105989448 critical splice donor site probably null
R1982:Dpep2 UTSW 8 105989455 nonsense probably null
R2172:Dpep2 UTSW 8 105988998 missense possibly damaging 0.88
R2399:Dpep2 UTSW 8 105989592 missense probably damaging 1.00
R4369:Dpep2 UTSW 8 105985075 missense probably benign 0.00
R4499:Dpep2 UTSW 8 105985482 missense probably benign 0.32
R4500:Dpep2 UTSW 8 105985482 missense probably benign 0.32
R4774:Dpep2 UTSW 8 105990756 missense possibly damaging 0.48
R5114:Dpep2 UTSW 8 105986193 missense probably damaging 1.00
R5727:Dpep2 UTSW 8 105986443 missense probably benign 0.00
R6052:Dpep2 UTSW 8 105990638 missense possibly damaging 0.91
R6177:Dpep2 UTSW 8 105986199 missense probably damaging 1.00
R6658:Dpep2 UTSW 8 105989910 missense probably benign 0.01
R6822:Dpep2 UTSW 8 105985241 missense probably benign 0.01
R7854:Dpep2 UTSW 8 105989528 missense
R7866:Dpep2 UTSW 8 105989481 missense
R8169:Dpep2 UTSW 8 105996217 missense
V7732:Dpep2 UTSW 8 105989260 missense probably damaging 1.00
Posted On2013-06-28