Incidental Mutation 'R2381:Dpys'
ID 248472
Institutional Source Beutler Lab
Gene Symbol Dpys
Ensembl Gene ENSMUSG00000022304
Gene Name dihydropyrimidinase
Synonyms 1300004I01Rik, 1200017I10Rik, DHPase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R2381 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 39631883-39720866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 39705450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 221 (R221L)
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: R221L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: R221L

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: R221L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: R221L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd248 G T 19: 5,119,221 (GRCm39) M356I possibly damaging Het
Cul4a T C 8: 13,186,887 (GRCm39) V541A probably benign Het
Dnajb1 T A 8: 84,336,971 (GRCm39) F147Y possibly damaging Het
Dnhd1 A G 7: 105,342,871 (GRCm39) K1405R probably benign Het
Elapor2 C T 5: 9,430,342 (GRCm39) P84L probably damaging Het
Gm12253 C T 11: 58,326,284 (GRCm39) R100C probably damaging Het
Inppl1 A T 7: 101,478,439 (GRCm39) S592R probably damaging Het
Lct G A 1: 128,231,858 (GRCm39) Q664* probably null Het
Or7g28 T A 9: 19,271,753 (GRCm39) E299D probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Pnpla7 A C 2: 24,870,770 (GRCm39) K80T probably damaging Het
Ppp4r3c1 T C X: 88,974,116 (GRCm39) I694V probably benign Het
Slc4a1 T C 11: 102,250,128 (GRCm39) D105G probably benign Het
Tpo A G 12: 30,181,826 (GRCm39) I23T possibly damaging Het
Unc5c A G 3: 141,383,916 (GRCm39) E98G probably damaging Het
Usp13 G A 3: 32,935,658 (GRCm39) probably null Het
Vmn1r175 G A 7: 23,508,093 (GRCm39) T178I probably benign Het
Zgrf1 A T 3: 127,349,863 (GRCm39) M15L probably benign 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
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
R5714:Dpys UTSW 15 39,720,553 (GRCm39) missense probably damaging 0.98
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'- AGCTCTGCCCGGTTGTTAAC -3'
(R):5'- GGCACTATGAATCTACGCTATCAGC -3'

Sequencing Primer
(F):5'- GTTGTTAACCTGAGACACCCACG -3'
(R):5'- GCTATCAGCGTATTTCACTCTG -3'
Posted On 2014-11-11