Incidental Mutation 'R5774:Dpep1'
ID 445563
Institutional Source Beutler Lab
Gene Symbol Dpep1
Ensembl Gene ENSMUSG00000019278
Gene Name dipeptidase 1
Synonyms MBD
MMRRC Submission 043373-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R5774 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 123913069-123928551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123926721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 211 (D211E)
Ref Sequence ENSEMBL: ENSMUSP00000019422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000759] [ENSMUST00000019422] [ENSMUST00000127664] [ENSMUST00000212409] [ENSMUST00000212773]
AlphaFold P31428
Predicted Effect probably benign
Transcript: ENSMUST00000000759
SMART Domains Protein: ENSMUSP00000000759
Gene: ENSMUSG00000000743

DomainStartEndE-ValueType
Pfam:Snf7 4 174 6.4e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000019422
AA Change: D211E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278
AA Change: D211E

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: D211E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000212773
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,581,668 (GRCm39) L62M probably damaging Het
Abcc9 G A 6: 142,574,285 (GRCm39) T949I probably damaging Het
Adam4 C T 12: 81,467,460 (GRCm39) S387N probably damaging Het
Akap11 T C 14: 78,748,407 (GRCm39) S1327G probably damaging Het
Arhgap1 A G 2: 91,484,453 (GRCm39) T12A possibly damaging Het
Arhgap28 A G 17: 68,188,487 (GRCm39) S228P possibly damaging Het
Atp6v1b2 A T 8: 69,554,613 (GRCm39) D106V probably damaging Het
Atp9b T G 18: 80,977,147 (GRCm39) D3A probably damaging Het
Bptf A G 11: 107,001,963 (GRCm39) F383S probably damaging Het
Cdh24 T C 14: 54,876,514 (GRCm39) T104A probably damaging Het
Cep55 A G 19: 38,051,103 (GRCm39) E171G probably damaging Het
Cntrl T A 2: 35,052,873 (GRCm39) M1126K probably benign Het
Cts3 A T 13: 61,716,184 (GRCm39) I59N probably damaging Het
Ddx52 A G 11: 83,836,960 (GRCm39) I150M probably damaging Het
Dennd6a T C 14: 26,300,974 (GRCm39) V62A probably benign Het
Gm1527 T C 3: 28,972,239 (GRCm39) V452A probably benign Het
Hmcn2 T C 2: 31,299,147 (GRCm39) V2831A possibly damaging Het
Hrob T A 11: 102,146,495 (GRCm39) I257N possibly damaging Het
Hydin G T 8: 111,298,547 (GRCm39) E3722* probably null Het
Il17a A G 1: 20,803,997 (GRCm39) S131G probably benign Het
Ing3 C T 6: 21,967,688 (GRCm39) P119S probably benign Het
Larp4b T A 13: 9,220,679 (GRCm39) probably null Het
Lca5l G T 16: 95,977,261 (GRCm39) Q177K probably benign Het
Lrrc61 C T 6: 48,545,133 (GRCm39) probably benign Het
Man2a2 T C 7: 80,018,106 (GRCm39) Y188C probably damaging Het
Mdk T C 2: 91,761,569 (GRCm39) E36G probably damaging Het
Mmp12 T C 9: 7,354,823 (GRCm39) I272T possibly damaging Het
Myh4 A T 11: 67,144,034 (GRCm39) K1135* probably null Het
Nup188 T A 2: 30,191,060 (GRCm39) Y96N probably damaging Het
Or8k33 A T 2: 86,384,351 (GRCm39) V39E possibly damaging Het
Pank4 G A 4: 155,065,119 (GRCm39) G806D probably damaging Het
Parp14 T C 16: 35,678,780 (GRCm39) Y396C probably damaging Het
Pcdhb8 T A 18: 37,489,738 (GRCm39) I472N probably damaging Het
Sema3a T A 5: 13,573,131 (GRCm39) W220R probably damaging Het
Slc35g3 A G 11: 69,651,124 (GRCm39) V309A probably damaging Het
Slc6a6 A G 6: 91,721,981 (GRCm39) M394V probably damaging Het
Specc1l G A 10: 75,081,234 (GRCm39) R210H probably damaging Het
Spocd1 T A 4: 129,845,579 (GRCm39) S480T probably benign Het
Sptbn5 T A 2: 119,880,939 (GRCm39) noncoding transcript Het
Srrm2 A G 17: 24,037,249 (GRCm39) probably benign Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Topbp1 A G 9: 103,205,698 (GRCm39) K779E probably benign Het
Trank1 T A 9: 111,220,294 (GRCm39) F2344I probably damaging Het
Ttll5 GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC G 12: 85,980,329 (GRCm39) probably null Het
Ube4a G A 9: 44,864,395 (GRCm39) P66L probably damaging Het
Utp6 A T 11: 79,844,424 (GRCm39) F200L probably benign Het
Vmn2r117 A T 17: 23,696,176 (GRCm39) H410Q probably damaging Het
Vps33b C T 7: 79,935,088 (GRCm39) H344Y probably benign Het
Xpo5 C T 17: 46,552,772 (GRCm39) R1145* probably null Het
Zbed4 T A 15: 88,665,852 (GRCm39) F640Y possibly damaging Het
Zfp618 C T 4: 63,050,799 (GRCm39) R527C probably damaging 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
IGL02723:Dpep1 APN 8 123,920,888 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- ACCCTTGAGCATTCAGGCTG -3'
(R):5'- CACCATCACCAGACTACTTGTG -3'

Sequencing Primer
(F):5'- AGGCTGCTGAATCCTGGGTAC -3'
(R):5'- TGAAAGTTAGAGAGGACCCCC -3'
Posted On 2016-11-21