Incidental Mutation 'R2172:Dpep2'
ID 237558
Institutional Source Beutler Lab
Gene Symbol Dpep2
Ensembl Gene ENSMUSG00000115067
Gene Name dipeptidase 2
Synonyms F630103D06Rik, MBD-2
MMRRC Submission 040174-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock # R2172 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 105984945-105996423 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105988998 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 320 (V320A)
Ref Sequence ENSEMBL: ENSMUSP00000154250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034373] [ENSMUST00000117555] [ENSMUST00000142898] [ENSMUST00000227363]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034373
AA Change: V231A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000034373
Gene: ENSMUSG00000053687
AA Change: V231A

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: V329A
SMART Domains Protein: ENSMUSP00000080659
Gene: ENSMUSG00000115067
AA Change: V329A

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 possibly damaging
Transcript: ENSMUST00000117555
AA Change: V138A

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113877
Gene: ENSMUSG00000053687
AA Change: V138A

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: V320A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 T A 18: 37,990,560 E441V probably damaging Het
Arfip2 T A 7: 105,637,988 D64V probably damaging Het
Atg9a C A 1: 75,185,685 R527L probably damaging Het
Atp1a1 T G 3: 101,590,548 I308L probably benign Het
Bcan T A 3: 87,996,581 Y199F probably damaging Het
Bsn T C 9: 108,109,992 probably benign Het
Ccdc158 A T 5: 92,632,508 L902H probably damaging Het
Dnah7b A G 1: 46,124,512 Y492C probably benign Het
Dnah9 G T 11: 66,072,779 H1783N probably damaging Het
Dsc2 A G 18: 20,045,502 Y282H probably damaging Het
Egfr C T 11: 16,911,562 P1114S probably benign Het
Fastkd1 A G 2: 69,700,133 S560P probably damaging Het
Gm10696 T G 3: 94,176,298 K69Q possibly damaging Het
Gm14295 G A 2: 176,811,102 R795Q possibly damaging Het
Gpr155 C T 2: 73,382,127 V51I probably benign Het
Gsap G A 5: 21,222,440 probably null Het
Hecw1 T A 13: 14,377,706 I103F probably damaging Het
Herc3 T A 6: 58,887,437 N685K probably damaging Het
Hnrnph1 T A 11: 50,382,816 D244E probably benign Het
Hydin A G 8: 110,582,049 E3989G probably benign Het
Ibsp T C 5: 104,310,430 Y278H probably damaging Het
Ift57 T G 16: 49,759,340 N291K probably benign Het
Il15ra A G 2: 11,723,571 T149A possibly damaging Het
Ints5 C T 19: 8,896,282 T535I possibly damaging Het
Jarid2 T C 13: 44,902,539 L268P probably damaging Het
Klhdc7a T A 4: 139,965,810 T609S probably benign Het
Lrrc49 A G 9: 60,602,682 V429A probably benign Het
Lsm3 T C 6: 91,522,272 V87A possibly damaging Het
Man1c1 G C 4: 134,703,438 P11R probably damaging Het
Map1a G T 2: 121,307,932 V2726L probably damaging Het
Marveld3 A C 8: 109,961,846 S88A probably benign Het
Mcm9 T C 10: 53,548,574 D640G probably damaging Het
Mettl4 A G 17: 94,733,163 I399T probably benign Het
Mmp27 T A 9: 7,577,378 L274* probably null Het
Nacc2 A C 2: 26,060,223 D500E probably benign Het
Nprl3 T A 11: 32,234,894 M372L probably benign Het
Olfr478 A T 7: 108,031,467 I292N probably damaging Het
Otud7b T G 3: 96,153,520 probably null Het
Pcx G A 19: 4,620,881 R1070H probably benign Het
Ptprq C T 10: 107,590,994 W1560* probably null Het
Puf60 A T 15: 76,070,464 I520N probably damaging Het
Qars C T 9: 108,509,200 R143C probably damaging Het
Rfx3 G A 19: 27,815,494 Q322* probably null Het
Samd14 G T 11: 95,014,391 V10L probably benign Het
Setd2 G A 9: 110,549,844 R909Q probably benign Het
Sh2d4a T C 8: 68,296,664 S117P probably benign Het
Sharpin C A 15: 76,350,666 probably benign Het
Skor1 C A 9: 63,145,122 A494S possibly damaging Het
Slc41a2 T C 10: 83,283,774 T375A probably benign Het
Sparc G A 11: 55,395,801 Q324* probably null Het
Srebf1 T C 11: 60,206,502 T171A probably benign Het
Srrd A G 5: 112,341,122 I54T possibly damaging Het
Tecpr1 G T 5: 144,196,417 Q1072K probably damaging Het
Tecpr1 A T 5: 144,211,456 V377E probably benign Het
Tln1 T A 4: 43,545,721 H919L probably benign Het
Tm9sf3 C T 19: 41,217,420 S516N probably damaging Het
Trpa1 T A 1: 14,881,656 T940S probably benign Het
Trpv4 G A 5: 114,644,710 R64C probably damaging Het
Tufm A G 7: 126,488,847 E174G probably benign Het
Urb2 A G 8: 124,031,102 T1183A probably damaging Het
Virma A T 4: 11,527,843 M1245L possibly damaging Het
Vmn2r32 T C 7: 7,474,615 Y259C probably damaging Het
Zfp329 A G 7: 12,810,767 F277L probably damaging Het
Zfp683 C T 4: 134,055,795 T190I possibly damaging Het
Other mutations in Dpep2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Dpep2 APN 8 105988821 missense probably damaging 1.00
IGL01160:Dpep2 APN 8 105986444 missense possibly damaging 0.95
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
G1citation:Dpep2 UTSW 8 105985241 missense probably benign 0.01
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
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
R9047:Dpep2 UTSW 8 105989312 missense
R9203:Dpep2 UTSW 8 105986253 missense probably damaging 1.00
R9222:Dpep2 UTSW 8 105996384 missense
V7732:Dpep2 UTSW 8 105989260 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCGATTCATTTCTGCCAC -3'
(R):5'- ACCTCCAAAGCGGGAATCTG -3'

Sequencing Primer
(F):5'- GCCACCACCTTCTGCAG -3'
(R):5'- ATCTGCCCTTGTGGACAAAG -3'
Posted On 2014-10-02