Incidental Mutation 'R9198:Dpyd'
ID 698029
Institutional Source Beutler Lab
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Name dihydropyrimidine dehydrogenase
Synonyms E330028L06Rik, DPD
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9198 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 118355778-119226573 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 118553303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177]
AlphaFold Q8CHR6
Predicted Effect probably null
Transcript: ENSMUST00000039177
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.5%
Validation Efficiency 97% (61/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,167,583 (GRCm39) probably null Het
Adamts9 A T 6: 92,837,170 (GRCm39) S1164T probably benign Het
Bcat1 A T 6: 144,985,222 (GRCm39) I140N probably damaging Het
Bod1l T C 5: 41,957,129 (GRCm39) T2832A probably benign Het
Brca2 A T 5: 150,459,977 (GRCm39) E417D possibly damaging Het
Ccdc88b T C 19: 6,831,268 (GRCm39) D558G possibly damaging Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cenpf G T 1: 189,388,987 (GRCm39) T1615K probably damaging Het
Cep250 T C 2: 155,830,354 (GRCm39) probably null Het
Clec4d T C 6: 123,251,757 (GRCm39) F213S probably damaging Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Csmd1 G A 8: 15,962,430 (GRCm39) R3255W probably damaging Het
Ctsm T C 13: 61,687,612 (GRCm39) D82G probably damaging Het
Cyp26a1 A G 19: 37,686,790 (GRCm39) T81A probably damaging Het
Dld A G 12: 31,390,885 (GRCm39) V187A probably benign Het
Dmrt2 T A 19: 25,655,477 (GRCm39) Y359N probably benign Het
Dnah9 T C 11: 65,846,570 (GRCm39) N2914S probably benign Het
Fgl2 A C 5: 21,577,920 (GRCm39) Q69P probably damaging Het
Gadd45gip1 A T 8: 85,560,780 (GRCm39) I132F probably damaging Het
Gm15446 T C 5: 110,090,743 (GRCm39) C332R probably damaging Het
Gm15737 A T 6: 92,856,640 (GRCm39) E23V unknown Het
Gm5111 A G 6: 48,567,037 (GRCm39) H84R unknown Het
Golga3 G A 5: 110,355,619 (GRCm39) S991N probably benign Het
H2-M10.3 A G 17: 36,678,919 (GRCm39) Y50H probably damaging Het
Hivep2 C T 10: 14,005,621 (GRCm39) H740Y probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Ints7 T A 1: 191,351,872 (GRCm39) S860R probably benign Het
Lipi T A 16: 75,362,461 (GRCm39) T217S possibly damaging Het
Lrrc2 G T 9: 110,791,722 (GRCm39) C158F probably benign Het
Lrrc30 T C 17: 67,938,854 (GRCm39) D242G probably benign Het
Map1a A T 2: 121,133,854 (GRCm39) M1557L probably benign Het
Matn2 A G 15: 34,423,924 (GRCm39) E594G probably damaging Het
Mfsd12 T C 10: 81,198,544 (GRCm39) L345P probably damaging Het
Mmp24 A G 2: 155,640,041 (GRCm39) R124G probably benign Het
Ngef T A 1: 87,406,797 (GRCm39) H240L unknown Het
Nmur1 T G 1: 86,315,256 (GRCm39) D203A probably benign Het
Nt5c3 T C 6: 56,859,955 (GRCm39) Q328R probably benign Het
Ogfr T C 2: 180,232,850 (GRCm39) probably null Het
Or4k1 A T 14: 50,377,990 (GRCm39) Y35* probably null Het
Or52ac1 T A 7: 104,245,635 (GRCm39) Y251F probably damaging Het
Or5h19 A G 16: 58,856,263 (GRCm39) V279A probably benign Het
Osbpl10 G A 9: 115,061,211 (GRCm39) W588* probably null Het
Pask A T 1: 93,265,205 (GRCm39) S17T possibly damaging Het
Pfkfb3 C T 2: 11,491,084 (GRCm39) R170K probably damaging Het
Plec A G 15: 76,069,937 (GRCm39) C960R unknown Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rfx7 T C 9: 72,524,163 (GRCm39) L451P probably damaging Het
Rimbp2 T A 5: 128,883,552 (GRCm39) E76V probably damaging Het
Rock2 A G 12: 17,015,557 (GRCm39) N818S probably benign Het
Ryk A T 9: 102,758,854 (GRCm39) I248F possibly damaging Het
Setd2 A G 9: 110,378,168 (GRCm39) Q661R possibly damaging Het
Siae T C 9: 37,539,105 (GRCm39) V172A probably benign Het
Slc35f4 A G 14: 49,556,377 (GRCm39) S9P unknown Het
Smg1 T C 7: 117,795,179 (GRCm39) E456G unknown Het
Srgap3 C T 6: 112,743,865 (GRCm39) A458T probably damaging Het
Tgfbrap1 T A 1: 43,093,799 (GRCm39) R564S probably damaging Het
Usp15 A G 10: 123,004,143 (GRCm39) Y204H probably damaging Het
Usp35 A G 7: 96,962,276 (GRCm39) Y527H probably damaging Het
Usp8 T A 2: 126,600,524 (GRCm39) *1092K probably null Het
Vmn2r73 A T 7: 85,518,987 (GRCm39) M545K probably benign Het
Ylpm1 A T 12: 85,080,689 (GRCm39) probably null Het
Zscan22 G T 7: 12,641,130 (GRCm39) R458L probably 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
R0014:Dpyd UTSW 3 118,935,584 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCATTATTCCACATATTGCAAGAGG -3'
(R):5'- AATGCTAATGTCCTGCCCCTAC -3'

Sequencing Primer
(F):5'- CCACATATTGCAAGAGGTATAAAAAC -3'
(R):5'- TGTGGCAACTTGAGATCCAC -3'
Posted On 2022-02-07