Incidental Mutation 'R0014:Dpyd'
ID 8177
Institutional Source Beutler Lab
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Name dihydropyrimidine dehydrogenase
Synonyms E330028L06Rik, DPD
MMRRC Submission 038309-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0014 (G1)
Quality Score
Status Validated
Chromosome 3
Chromosomal Location 118355778-119226573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118935584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 670 (S670P)
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177]
AlphaFold Q8CHR6
Predicted Effect probably damaging
Transcript: ENSMUST00000039177
AA Change: S670P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: S670P

DomainStartEndE-ValueType
Pfam:Fer4_20 55 168 4.6e-35 PFAM
Pfam:Pyr_redox_2 188 499 1.5e-15 PFAM
Pfam:NAD_binding_8 193 249 5.5e-8 PFAM
Pfam:DHO_dh 532 838 8.1e-36 PFAM
Pfam:Dus 617 822 7.5e-8 PFAM
Pfam:Fer4_10 945 997 7.4e-9 PFAM
Pfam:Fer4_21 946 1004 1.3e-26 PFAM
Meta Mutation Damage Score 0.9735 question?
Coding Region Coverage
  • 1x: 75.1%
  • 3x: 61.1%
  • 10x: 30.7%
  • 20x: 14.1%
Validation Efficiency 90% (62/69)
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 pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 C T 12: 21,386,645 (GRCm39) E445K probably benign Het
Als2 A G 1: 59,250,547 (GRCm39) V399A possibly damaging Het
Ankrd52 C A 10: 128,222,321 (GRCm39) T583K probably benign Het
Ccr5 T C 9: 123,924,658 (GRCm39) F87S probably damaging Het
Clcc1 T A 3: 108,568,712 (GRCm39) C10* probably null Het
Cngb3 T C 4: 19,396,685 (GRCm39) I346T probably benign Het
Degs1l T C 1: 180,882,696 (GRCm39) F153L possibly damaging Het
Dmbx1 G T 4: 115,775,221 (GRCm39) T358K probably damaging Het
Dnai3 T C 3: 145,787,178 (GRCm39) probably null Het
Epc2 A T 2: 49,412,537 (GRCm39) K172* probably null Het
Exog T C 9: 119,281,344 (GRCm39) I218T probably damaging Het
F2rl2 A T 13: 95,837,417 (GRCm39) N154I probably damaging Het
Fbxo30 T A 10: 11,165,603 (GRCm39) Y108* probably null Het
Fhad1 A T 4: 141,655,719 (GRCm39) L795Q probably damaging Het
Fyttd1 G A 16: 32,725,924 (GRCm39) R175Q probably damaging Het
Gbp5 T A 3: 142,212,496 (GRCm39) C395S probably damaging Het
Gen1 T C 12: 11,291,642 (GRCm39) N716D probably benign Het
Gucy1b1 T C 3: 81,947,168 (GRCm39) D347G probably damaging Het
Helz2 A G 2: 180,882,304 (GRCm39) L163P probably damaging Het
Hmox2 T A 16: 4,582,897 (GRCm39) L210Q probably damaging Het
Khdrbs3 A G 15: 68,896,684 (GRCm39) T115A probably benign Het
Lrrk2 T C 15: 91,686,248 (GRCm39) probably benign Het
Ncoa6 A C 2: 155,279,963 (GRCm39) S18A possibly damaging Het
Neb G A 2: 52,177,168 (GRCm39) A1391V probably damaging Het
Nek6 T C 2: 38,448,856 (GRCm39) probably benign Het
Pclo C T 5: 14,730,465 (GRCm39) probably benign Het
Pex1 G A 5: 3,676,141 (GRCm39) probably benign Het
Pi4kb T G 3: 94,906,208 (GRCm39) I612S probably damaging Het
Pitx2 T G 3: 129,012,148 (GRCm39) S193A possibly damaging Het
Psma8 A G 18: 14,859,587 (GRCm39) I86V possibly damaging Het
Slc7a2 T C 8: 41,364,065 (GRCm39) L426P probably damaging Het
Tut1 T A 19: 8,939,811 (GRCm39) L265Q possibly damaging Het
Zfp458 A G 13: 67,406,154 (GRCm39) V95A possibly damaging Het
Other mutations in Dpyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Dpyd APN 3 118,737,891 (GRCm39) missense probably damaging 1.00
IGL00508:Dpyd APN 3 118,858,636 (GRCm39) missense probably benign 0.06
IGL02113:Dpyd APN 3 118,792,868 (GRCm39) missense probably benign 0.06
IGL02177:Dpyd APN 3 118,858,559 (GRCm39) missense possibly damaging 0.76
IGL03001:Dpyd APN 3 118,710,891 (GRCm39) missense probably benign 0.07
IGL03106:Dpyd APN 3 118,988,783 (GRCm39) missense probably benign 0.03
IGL03399:Dpyd APN 3 119,108,426 (GRCm39) missense probably damaging 0.98
F5770:Dpyd UTSW 3 118,690,775 (GRCm39) nonsense probably null
F6893:Dpyd UTSW 3 118,597,783 (GRCm39) critical splice donor site probably null
R0081:Dpyd UTSW 3 118,737,904 (GRCm39) missense probably benign 0.00
R0267:Dpyd UTSW 3 118,710,921 (GRCm39) missense probably benign
R0349:Dpyd UTSW 3 118,710,748 (GRCm39) nonsense probably null
R0387:Dpyd UTSW 3 119,220,875 (GRCm39) missense probably benign 0.21
R0523:Dpyd UTSW 3 118,692,852 (GRCm39) missense probably benign
R0555:Dpyd UTSW 3 119,225,191 (GRCm39) missense probably damaging 1.00
R0652:Dpyd UTSW 3 119,220,924 (GRCm39) missense probably damaging 1.00
R0741:Dpyd UTSW 3 118,468,154 (GRCm39) missense possibly damaging 0.79
R1313:Dpyd UTSW 3 118,692,810 (GRCm39) splice site probably benign
R1554:Dpyd UTSW 3 118,858,695 (GRCm39) splice site probably null
R1610:Dpyd UTSW 3 118,858,655 (GRCm39) missense probably benign
R1710:Dpyd UTSW 3 118,404,092 (GRCm39) critical splice acceptor site probably null
R1861:Dpyd UTSW 3 118,710,780 (GRCm39) missense probably damaging 1.00
R2103:Dpyd UTSW 3 118,858,601 (GRCm39) missense probably benign 0.02
R2130:Dpyd UTSW 3 118,468,217 (GRCm39) missense probably benign
R2131:Dpyd UTSW 3 118,468,217 (GRCm39) missense probably benign
R2882:Dpyd UTSW 3 118,858,679 (GRCm39) missense probably damaging 0.99
R3771:Dpyd UTSW 3 119,205,927 (GRCm39) critical splice donor site probably null
R3978:Dpyd UTSW 3 118,690,738 (GRCm39) critical splice acceptor site probably benign
R3978:Dpyd UTSW 3 118,690,737 (GRCm39) critical splice acceptor site probably benign
R4030:Dpyd UTSW 3 118,690,815 (GRCm39) missense probably benign 0.03
R4065:Dpyd UTSW 3 118,690,738 (GRCm39) critical splice acceptor site probably benign
R4066:Dpyd UTSW 3 118,690,738 (GRCm39) critical splice acceptor site probably benign
R4234:Dpyd UTSW 3 119,225,233 (GRCm39) missense probably damaging 1.00
R4502:Dpyd UTSW 3 118,591,186 (GRCm39) missense probably damaging 1.00
R4638:Dpyd UTSW 3 119,059,726 (GRCm39) missense probably benign 0.03
R4980:Dpyd UTSW 3 118,710,767 (GRCm39) missense probably damaging 0.99
R5262:Dpyd UTSW 3 118,591,071 (GRCm39) nonsense probably null
R5348:Dpyd UTSW 3 118,575,592 (GRCm39) missense probably benign
R5587:Dpyd UTSW 3 118,858,600 (GRCm39) missense probably damaging 1.00
R5611:Dpyd UTSW 3 118,987,942 (GRCm39) missense probably benign
R5665:Dpyd UTSW 3 118,710,741 (GRCm39) missense probably damaging 1.00
R5716:Dpyd UTSW 3 118,692,828 (GRCm39) missense probably damaging 1.00
R5786:Dpyd UTSW 3 119,220,886 (GRCm39) missense probably damaging 0.97
R6046:Dpyd UTSW 3 119,225,224 (GRCm39) missense probably benign 0.01
R6404:Dpyd UTSW 3 119,059,606 (GRCm39) missense probably benign 0.02
R6703:Dpyd UTSW 3 118,690,849 (GRCm39) splice site probably null
R7037:Dpyd UTSW 3 118,692,938 (GRCm39) missense probably benign 0.00
R7215:Dpyd UTSW 3 119,059,681 (GRCm39) missense probably benign 0.11
R7301:Dpyd UTSW 3 118,692,933 (GRCm39) missense possibly damaging 0.90
R7336:Dpyd UTSW 3 118,858,570 (GRCm39) missense probably damaging 1.00
R7714:Dpyd UTSW 3 118,597,780 (GRCm39) missense probably benign 0.01
R8238:Dpyd UTSW 3 118,988,842 (GRCm39) splice site probably null
R8306:Dpyd UTSW 3 119,205,822 (GRCm39) missense probably benign
R8315:Dpyd UTSW 3 119,108,534 (GRCm39) missense probably benign 0.09
R8321:Dpyd UTSW 3 118,575,573 (GRCm39) missense possibly damaging 0.84
R8342:Dpyd UTSW 3 119,108,452 (GRCm39) missense possibly damaging 0.60
R8735:Dpyd UTSW 3 118,935,565 (GRCm39) missense possibly damaging 0.74
R8750:Dpyd UTSW 3 118,935,585 (GRCm39) missense probably damaging 1.00
R8874:Dpyd UTSW 3 118,792,981 (GRCm39) missense probably damaging 1.00
R8910:Dpyd UTSW 3 118,404,167 (GRCm39) missense probably benign 0.17
R8973:Dpyd UTSW 3 119,108,582 (GRCm39) critical splice donor site probably null
R9070:Dpyd UTSW 3 118,792,892 (GRCm39) missense probably damaging 0.98
R9132:Dpyd UTSW 3 118,710,897 (GRCm39) missense probably damaging 1.00
R9198:Dpyd UTSW 3 118,553,303 (GRCm39) critical splice acceptor site probably null
R9260:Dpyd UTSW 3 119,108,447 (GRCm39) missense possibly damaging 0.95
R9307:Dpyd UTSW 3 119,108,560 (GRCm39) missense probably benign
V7581:Dpyd UTSW 3 118,690,775 (GRCm39) nonsense probably null
V7582:Dpyd UTSW 3 118,690,775 (GRCm39) nonsense probably null
V7583:Dpyd UTSW 3 118,690,775 (GRCm39) nonsense probably null
Posted On 2012-11-20