Incidental Mutation 'IGL02527:Dpep1'
ID297134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpep1
Ensembl Gene ENSMUSG00000019278
Gene Namedipeptidase 1 (renal)
SynonymsMBD
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL02527
Quality Score
Status
Chromosome8
Chromosomal Location123186242-123201812 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123198748 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 47 (F47L)
Ref Sequence ENSEMBL: ENSMUSP00000148609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019422] [ENSMUST00000127664] [ENSMUST00000212409] [ENSMUST00000212773]
Predicted Effect probably benign
Transcript: ENSMUST00000019422
AA Change: F47L

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278
AA Change: F47L

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 probably damaging
Transcript: ENSMUST00000212409
AA Change: F47L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212773
AA Change: F47L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Dpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Dpep1 APN 8 123199615 splice site probably benign
IGL02354:Dpep1 APN 8 123200218 missense probably benign
IGL02361:Dpep1 APN 8 123200218 missense probably benign
IGL02723:Dpep1 APN 8 123194149 missense possibly damaging 0.95
R0190:Dpep1 UTSW 8 123200708 missense probably benign 0.21
R1348:Dpep1 UTSW 8 123199160 missense probably benign 0.02
R1719:Dpep1 UTSW 8 123200747 missense possibly damaging 0.67
R2060:Dpep1 UTSW 8 123200391 missense probably damaging 0.99
R2081:Dpep1 UTSW 8 123199378 missense probably damaging 0.97
R2279:Dpep1 UTSW 8 123194144 missense probably benign 0.04
R3931:Dpep1 UTSW 8 123198779 missense possibly damaging 0.73
R4027:Dpep1 UTSW 8 123194153 missense probably benign 0.12
R4836:Dpep1 UTSW 8 123200367 missense probably damaging 1.00
R5007:Dpep1 UTSW 8 123199378 missense probably damaging 0.97
R5149:Dpep1 UTSW 8 123200438 missense probably benign 0.01
R5268:Dpep1 UTSW 8 123194089 missense probably benign 0.12
R5774:Dpep1 UTSW 8 123199982 missense probably damaging 1.00
R6041:Dpep1 UTSW 8 123200655 missense probably damaging 0.99
R6335:Dpep1 UTSW 8 123200652 missense probably damaging 1.00
R7705:Dpep1 UTSW 8 123200721 missense possibly damaging 0.94
T0975:Dpep1 UTSW 8 123200988 missense probably damaging 0.99
X0005:Dpep1 UTSW 8 123200988 missense probably damaging 0.99
Posted On2015-04-16