Incidental Mutation 'R8130:Dpep1'
ID 631975
Institutional Source Beutler Lab
Gene Symbol Dpep1
Ensembl Gene ENSMUSG00000019278
Gene Name dipeptidase 1
Synonyms MBD
MMRRC Submission 067559-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R8130 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 123913069-123928551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123926965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 263 (V263A)
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: V263A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278
AA Change: V263A

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: V263A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000212773
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 96% (52/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,271 (GRCm39) I130M probably damaging Het
4921539E11Rik T C 4: 103,092,895 (GRCm39) D142G probably damaging Het
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Arfgef2 T A 2: 166,678,170 (GRCm39) S218T possibly damaging Het
Armc8 C T 9: 99,433,600 (GRCm39) V40I probably benign Het
Caps2 A T 10: 112,018,381 (GRCm39) D177V probably benign Het
Cdh8 A T 8: 99,757,676 (GRCm39) F641I probably damaging Het
Cemip T C 7: 83,596,384 (GRCm39) S1127G probably benign Het
Cmtm1 C A 8: 105,036,088 (GRCm39) Q180H unknown Het
Col15a1 C T 4: 47,312,196 (GRCm39) T1337I probably damaging Het
Col18a1 A T 10: 76,910,284 (GRCm39) M555K probably benign Het
Ctrb1 A G 8: 112,415,823 (GRCm39) F89L possibly damaging Het
Disp1 T C 1: 182,917,199 (GRCm39) T76A probably benign Het
Dysf G A 6: 84,114,358 (GRCm39) E1216K probably damaging Het
F830016B08Rik A G 18: 60,433,052 (GRCm39) Y45C probably benign Het
Fam186a CGG CG 15: 99,841,914 (GRCm39) probably null Het
Gcm1 T A 9: 77,971,816 (GRCm39) D252E probably benign Het
Gm11559 A G 11: 99,755,416 (GRCm39) T22A unknown Het
Gm4847 C T 1: 166,465,917 (GRCm39) R224Q probably damaging Het
Hypk A G 2: 121,286,859 (GRCm39) probably benign Het
I830077J02Rik C T 3: 105,834,233 (GRCm39) C64Y possibly damaging Het
Igkv4-86 T C 6: 68,887,650 (GRCm39) I30V probably benign Het
Il17ra A G 6: 120,455,416 (GRCm39) I342V probably benign Het
Kcnip3 C T 2: 127,352,828 (GRCm39) A64T possibly damaging Het
Kdm5d T A Y: 940,658 (GRCm39) D1056E possibly damaging Het
Kif19b C T 5: 140,460,716 (GRCm39) R461C probably damaging Het
Krtap19-2 C T 16: 88,670,903 (GRCm39) G81R unknown Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lpin1 A T 12: 16,629,965 (GRCm39) I69N Het
Matcap1 G A 8: 106,012,145 (GRCm39) R101W probably benign Het
Mki67 C T 7: 135,299,293 (GRCm39) D1914N probably damaging Het
Mmrn1 A T 6: 60,937,707 (GRCm39) Q235L probably damaging Het
Mndal T A 1: 173,699,111 (GRCm39) K185* probably null Het
Muc6 T C 7: 141,233,354 (GRCm39) T802A probably damaging Het
Necab1 A T 4: 15,005,073 (GRCm39) F130L probably damaging Het
Nemf A T 12: 69,402,826 (GRCm39) M70K possibly damaging Het
Nploc4 A G 11: 120,280,240 (GRCm39) I436T possibly damaging Het
Obscn C A 11: 59,015,439 (GRCm39) R1011M probably damaging Het
Or4k44 A T 2: 111,367,825 (GRCm39) F270I probably damaging Het
Or5aq1b T C 2: 86,901,570 (GRCm39) K303E probably benign Het
Or8k24 T A 2: 86,215,911 (GRCm39) M284L probably benign Het
Ormdl1 T A 1: 53,338,139 (GRCm39) M1K probably null Het
Pramel34 A T 5: 93,784,597 (GRCm39) L289Q probably damaging Het
Psmb3 A G 11: 97,594,723 (GRCm39) D38G probably benign Het
Psme4 T A 11: 30,792,026 (GRCm39) L1171Q probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc22a18 G A 7: 143,052,911 (GRCm39) V379I probably damaging Het
Speg T A 1: 75,392,240 (GRCm39) F1632L probably damaging Het
Taok1 G A 11: 77,470,659 (GRCm39) R49C possibly damaging Het
Ttll6 T C 11: 96,047,425 (GRCm39) S675P probably benign Het
Usp8 A T 2: 126,559,918 (GRCm39) probably benign Het
Vmn2r81 T A 10: 79,110,538 (GRCm39) N550K possibly damaging Het
Zfp119a A T 17: 56,172,971 (GRCm39) C291S probably damaging Het
Zfp329 C A 7: 12,544,313 (GRCm39) G404C probably damaging Het
Zfp934 C A 13: 62,667,985 (GRCm39) probably null 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
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
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'- TGATTGACCTGTCCCACGTG -3'
(R):5'- GCCACCTTCTTGATGTGGTC -3'

Sequencing Primer
(F):5'- AAGGACGCTTTGCAGATCTC -3'
(R):5'- CCAGGTGGTCTGTAGGGAGTAAG -3'
Posted On 2020-06-30