Incidental Mutation 'IGL02723:Dpep1'
ID 305058
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpep1
Ensembl Gene ENSMUSG00000019278
Gene Name dipeptidase 1
Synonyms MBD
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # IGL02723
Quality Score
Status
Chromosome 8
Chromosomal Location 123913069-123928551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123920888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 23 (A23T)
Ref Sequence ENSEMBL: ENSMUSP00000148823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019422] [ENSMUST00000127664] [ENSMUST00000212409] [ENSMUST00000212773]
AlphaFold P31428
Predicted Effect possibly damaging
Transcript: ENSMUST00000019422
AA Change: A23T

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278
AA Change: A23T

DomainStartEndE-ValueType
Pfam:Peptidase_M19 25 352 4.1e-122 PFAM
low complexity region 398 410 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000212409
AA Change: A23T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212773
AA Change: A23T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for disruption of this gene ar phenotypically normal although defects have been noted in the conversion of leukotriene D4 to leukotrience E4. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn9 A T 8: 125,335,922 (GRCm39) probably benign Het
Cchcr1 A C 17: 35,841,699 (GRCm39) K761Q probably benign Het
Cfap20dc T C 14: 8,516,507 (GRCm38) N347S probably benign Het
Csk G T 9: 57,538,672 (GRCm39) probably benign Het
Cyp2j7 T C 4: 96,118,366 (GRCm39) K76E probably benign Het
Dpp8 T A 9: 64,949,549 (GRCm39) M98K possibly damaging Het
Dspp C A 5: 104,323,041 (GRCm39) N61K probably benign Het
Eno2 T C 6: 124,738,626 (GRCm39) Y364C probably damaging Het
Gfra1 A G 19: 58,441,683 (GRCm39) S83P probably benign Het
Gramd1b T C 9: 40,218,127 (GRCm39) E563G probably damaging Het
Kcns2 G T 15: 34,838,961 (GRCm39) W108L probably damaging Het
Mroh4 T C 15: 74,480,086 (GRCm39) probably benign Het
Obscn A T 11: 59,015,446 (GRCm39) S1009T probably benign Het
Or2y11 A G 11: 49,443,506 (GRCm39) R311G probably benign Het
Or5b119 A G 19: 13,456,699 (GRCm39) Y288H probably damaging Het
Or7g32 T C 9: 19,388,805 (GRCm39) H244R probably damaging Het
Or8b41 A G 9: 38,054,707 (GRCm39) K92R probably benign Het
Plcb2 G A 2: 118,547,500 (GRCm39) probably benign Het
Rpl13a-ps1 T A 19: 50,019,111 (GRCm39) I22F possibly damaging Het
Skil A G 3: 31,171,673 (GRCm39) E599G probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Spata31 T C 13: 65,068,463 (GRCm39) S204P probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tenm3 A T 8: 48,729,938 (GRCm39) V1356E probably benign Het
Trpc3 T A 3: 36,704,377 (GRCm39) I527F probably benign Het
Vmn2r69 A G 7: 85,059,416 (GRCm39) W498R probably damaging Het
Vwde T A 6: 13,205,759 (GRCm39) I263L probably damaging Het
Vwf G T 6: 125,619,893 (GRCm39) V1524L possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Dpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Dpep1 APN 8 123,926,354 (GRCm39) splice site probably benign
IGL02354:Dpep1 APN 8 123,926,957 (GRCm39) missense probably benign
IGL02361:Dpep1 APN 8 123,926,957 (GRCm39) missense probably benign
IGL02527:Dpep1 APN 8 123,925,487 (GRCm39) missense probably damaging 1.00
R0190:Dpep1 UTSW 8 123,927,447 (GRCm39) missense probably benign 0.21
R1348:Dpep1 UTSW 8 123,925,899 (GRCm39) missense probably benign 0.02
R1719:Dpep1 UTSW 8 123,927,486 (GRCm39) missense possibly damaging 0.67
R2060:Dpep1 UTSW 8 123,927,130 (GRCm39) missense probably damaging 0.99
R2081:Dpep1 UTSW 8 123,926,117 (GRCm39) missense probably damaging 0.97
R2279:Dpep1 UTSW 8 123,920,883 (GRCm39) missense probably benign 0.04
R3931:Dpep1 UTSW 8 123,925,518 (GRCm39) missense possibly damaging 0.73
R4027:Dpep1 UTSW 8 123,920,892 (GRCm39) missense probably benign 0.12
R4836:Dpep1 UTSW 8 123,927,106 (GRCm39) missense probably damaging 1.00
R5007:Dpep1 UTSW 8 123,926,117 (GRCm39) missense probably damaging 0.97
R5149:Dpep1 UTSW 8 123,927,177 (GRCm39) missense probably benign 0.01
R5268:Dpep1 UTSW 8 123,920,828 (GRCm39) missense probably benign 0.12
R5774:Dpep1 UTSW 8 123,926,721 (GRCm39) missense probably damaging 1.00
R6041:Dpep1 UTSW 8 123,927,394 (GRCm39) missense probably damaging 0.99
R6335:Dpep1 UTSW 8 123,927,391 (GRCm39) missense probably damaging 1.00
R7705:Dpep1 UTSW 8 123,927,460 (GRCm39) missense possibly damaging 0.94
R7993:Dpep1 UTSW 8 123,927,460 (GRCm39) missense possibly damaging 0.94
R8130:Dpep1 UTSW 8 123,926,965 (GRCm39) missense probably damaging 1.00
R8810:Dpep1 UTSW 8 123,926,764 (GRCm39) missense probably benign 0.02
T0975:Dpep1 UTSW 8 123,927,727 (GRCm39) missense probably damaging 0.99
X0005:Dpep1 UTSW 8 123,927,727 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16