Incidental Mutation 'R5714:Dpys'
ID 451068
Institutional Source Beutler Lab
Gene Symbol Dpys
Ensembl Gene ENSMUSG00000022304
Gene Name dihydropyrimidinase
Synonyms 1300004I01Rik, 1200017I10Rik, DHPase
MMRRC Submission 043186-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R5714 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 39631883-39720866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39720553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 69 (H69L)
Ref Sequence ENSEMBL: ENSMUSP00000105935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022915] [ENSMUST00000110306]
AlphaFold Q9EQF5
Predicted Effect probably damaging
Transcript: ENSMUST00000022915
AA Change: H69L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: H69L

DomainStartEndE-ValueType
Pfam:Amidohydro_1 58 447 1.2e-39 PFAM
Pfam:Amidohydro_3 310 448 6.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110306
AA Change: H69L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: H69L

DomainStartEndE-ValueType
Pfam:Amidohydro_5 25 98 8.3e-14 PFAM
Pfam:Amidohydro_4 53 404 4e-22 PFAM
Pfam:Amidohydro_1 58 407 1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150196
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 G T 18: 65,438,532 (GRCm39) Q1421K possibly damaging Het
Ankub1 G A 3: 57,580,258 (GRCm39) T133M probably benign Het
Bcar3 G A 3: 122,248,736 (GRCm39) V112M possibly damaging Het
Cacna1s A G 1: 136,039,804 (GRCm39) K1476R probably benign Het
Cdc42ep1 C A 15: 78,733,977 (GRCm39) A359E possibly damaging Het
Cemip T A 7: 83,624,387 (GRCm39) D483V probably damaging Het
Cyp4f39 G A 17: 32,700,799 (GRCm39) R156H probably damaging Het
Fbxl21 A G 13: 56,674,885 (GRCm39) I79V probably benign Het
Fgf9 T C 14: 58,347,022 (GRCm39) L205P probably damaging Het
Fkbp14 A G 6: 54,562,835 (GRCm39) F144L probably damaging Het
Flnb A C 14: 7,929,073 (GRCm38) D1934A probably damaging Het
Garre1 G A 7: 33,939,941 (GRCm39) Q717* probably null Het
Glul T C 1: 153,782,243 (GRCm39) probably benign Het
Helz T A 11: 107,517,347 (GRCm39) probably null Het
Kap A G 6: 133,828,956 (GRCm39) Y42H probably benign Het
Kcnh8 T C 17: 53,285,150 (GRCm39) V1040A probably benign Het
Kptn A G 7: 15,854,683 (GRCm39) probably null Het
Lypd3 A G 7: 24,338,494 (GRCm39) T182A possibly damaging Het
Mcm5 A C 8: 75,847,538 (GRCm39) D445A probably damaging Het
Mios T A 6: 8,215,434 (GRCm39) I210K probably damaging Het
Nat8f2 A G 6: 85,844,891 (GRCm39) V157A probably benign Het
Or1e16 T A 11: 73,286,187 (GRCm39) probably null Het
Pard3b C A 1: 62,677,075 (GRCm39) A1140E probably null Het
Pcnt A T 10: 76,256,325 (GRCm39) D638E probably damaging Het
Pdgfra T C 5: 75,346,673 (GRCm39) I834T probably damaging Het
Phyhd1 T A 2: 30,169,994 (GRCm39) L162H probably damaging Het
Polg C A 7: 79,101,739 (GRCm39) A1026S possibly damaging Het
Prl7c1 A T 13: 27,962,949 (GRCm39) L18* probably null Het
Rars2 T A 4: 34,645,779 (GRCm39) M232K probably benign Het
Rtl1 A G 12: 109,560,114 (GRCm39) V575A probably damaging Het
Slc18b1 A T 10: 23,674,664 (GRCm39) T40S probably benign Het
Slc22a19 T C 19: 7,688,387 (GRCm39) T58A probably damaging Het
Slc27a6 A T 18: 58,731,625 (GRCm39) E325V probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srd5a3 T A 5: 76,301,413 (GRCm39) F214Y probably benign Het
Tgfbr2 A T 9: 116,004,092 (GRCm39) L5Q probably damaging Het
Tmem94 C A 11: 115,684,016 (GRCm39) Q779K probably benign Het
Ttn G A 2: 76,652,837 (GRCm39) P216S probably benign Het
Ush2a A T 1: 188,132,454 (GRCm39) Q892L probably benign Het
Vgll4 A T 6: 114,867,737 (GRCm39) M38K possibly damaging Het
Vmn2r109 A G 17: 20,773,121 (GRCm39) I500T probably damaging Het
Vps33a T C 5: 123,707,563 (GRCm39) I135V probably benign Het
Wscd1 T C 11: 71,675,261 (GRCm39) probably null Het
Zfp457 C A 13: 67,444,490 (GRCm39) M4I possibly damaging Het
Zfp532 G A 18: 65,756,606 (GRCm39) G180R possibly damaging Het
Zfp97 A G 17: 17,365,871 (GRCm39) T457A possibly damaging Het
Other mutations in Dpys
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Dpys APN 15 39,710,045 (GRCm39) missense probably damaging 1.00
IGL01408:Dpys APN 15 39,656,702 (GRCm39) missense possibly damaging 0.74
IGL02372:Dpys APN 15 39,656,667 (GRCm39) missense probably benign 0.17
IGL02949:Dpys APN 15 39,690,279 (GRCm39) missense probably damaging 0.97
IGL03357:Dpys APN 15 39,687,612 (GRCm39) missense probably damaging 1.00
IGL02837:Dpys UTSW 15 39,720,701 (GRCm39) missense probably damaging 1.00
PIT4468001:Dpys UTSW 15 39,720,601 (GRCm39) missense probably damaging 0.96
R0315:Dpys UTSW 15 39,720,734 (GRCm39) missense probably benign 0.01
R1252:Dpys UTSW 15 39,687,636 (GRCm39) missense probably damaging 1.00
R2314:Dpys UTSW 15 39,691,486 (GRCm39) missense possibly damaging 0.76
R2381:Dpys UTSW 15 39,705,450 (GRCm39) missense probably damaging 1.00
R2961:Dpys UTSW 15 39,648,010 (GRCm39) missense probably benign
R4653:Dpys UTSW 15 39,656,642 (GRCm39) missense probably damaging 0.97
R4702:Dpys UTSW 15 39,656,798 (GRCm39) missense possibly damaging 0.69
R4978:Dpys UTSW 15 39,690,332 (GRCm39) missense possibly damaging 0.94
R5640:Dpys UTSW 15 39,705,462 (GRCm39) missense probably damaging 1.00
R5758:Dpys UTSW 15 39,690,395 (GRCm39) missense possibly damaging 0.67
R6017:Dpys UTSW 15 39,710,114 (GRCm39) missense probably null 0.04
R6482:Dpys UTSW 15 39,705,369 (GRCm39) missense probably damaging 1.00
R6788:Dpys UTSW 15 39,720,559 (GRCm39) missense probably damaging 1.00
R7090:Dpys UTSW 15 39,690,279 (GRCm39) missense probably damaging 0.97
R7098:Dpys UTSW 15 39,656,727 (GRCm39) missense probably damaging 1.00
R7869:Dpys UTSW 15 39,656,782 (GRCm39) missense probably damaging 1.00
R8030:Dpys UTSW 15 39,691,486 (GRCm39) missense possibly damaging 0.76
R8092:Dpys UTSW 15 39,710,010 (GRCm39) missense probably benign 0.00
R8318:Dpys UTSW 15 39,648,061 (GRCm39) missense probably benign
R8347:Dpys UTSW 15 39,720,709 (GRCm39) missense probably benign 0.03
R8352:Dpys UTSW 15 39,656,720 (GRCm39) missense possibly damaging 0.46
R8452:Dpys UTSW 15 39,656,720 (GRCm39) missense possibly damaging 0.46
R8914:Dpys UTSW 15 39,720,619 (GRCm39) missense probably benign
R9341:Dpys UTSW 15 39,656,748 (GRCm39) missense possibly damaging 0.88
R9343:Dpys UTSW 15 39,656,748 (GRCm39) missense possibly damaging 0.88
R9403:Dpys UTSW 15 39,691,467 (GRCm39) missense probably damaging 1.00
R9473:Dpys UTSW 15 39,687,583 (GRCm39) missense possibly damaging 0.82
R9723:Dpys UTSW 15 39,691,509 (GRCm39) missense probably damaging 1.00
Z1177:Dpys UTSW 15 39,705,495 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GGCATACAGTATCTTCACCCG -3'
(R):5'- CACAGGGACGACTTCTCATC -3'

Sequencing Primer
(F):5'- TACAGTATCTTCACCCGAGATGG -3'
(R):5'- ACGACTTCTCATCCGCGG -3'
Posted On 2017-01-03