Incidental Mutation 'R8342:Dpyd'
ID 644938
Institutional Source Beutler Lab
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Name dihydropyrimidine dehydrogenase
Synonyms E330028L06Rik, DPD
MMRRC Submission 067731-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 118355778-119226573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119108452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 832 (T832A)
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177]
AlphaFold Q8CHR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000039177
AA Change: T832A

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: T832A

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A G 6: 86,963,321 (GRCm39) D917G unknown Het
Adad1 T C 3: 37,134,050 (GRCm39) S322P probably damaging Het
Agbl4 C T 4: 110,976,224 (GRCm39) L194F probably damaging Het
Ahr C T 12: 35,558,271 (GRCm39) G250R probably damaging Het
AI987944 A T 7: 41,024,310 (GRCm39) I226N probably benign Het
Ankar A G 1: 72,691,619 (GRCm39) V1114A probably damaging Het
Ankrd49 C A 9: 14,692,823 (GRCm39) A114S probably damaging Het
Arl6 C T 16: 59,442,802 (GRCm39) G140D unknown Het
Arrdc3 A G 13: 81,031,790 (GRCm39) S8G probably benign Het
Ate1 A T 7: 130,105,495 (GRCm39) V298E probably benign Het
Atp6v1b2 A G 8: 69,554,035 (GRCm39) I71V probably benign Het
Bin1 A G 18: 32,546,166 (GRCm39) M112V probably benign Het
Camk2b C T 11: 5,940,383 (GRCm39) A152T probably benign Het
Cars2 A C 8: 11,579,706 (GRCm39) F251V probably damaging Het
Cdkl1 A T 12: 69,800,952 (GRCm39) F229I probably damaging Het
Ceacam5 A T 7: 17,486,171 (GRCm39) Y556F possibly damaging Het
Chst15 T C 7: 131,849,615 (GRCm39) N442S probably benign Het
Ckap5 T A 2: 91,436,707 (GRCm39) D1602E possibly damaging Het
Col9a3 A T 2: 180,245,183 (GRCm39) I131F unknown Het
Cyp4f15 A T 17: 32,909,733 (GRCm39) D110V possibly damaging Het
Dlec1 A G 9: 118,968,457 (GRCm39) I1258V probably benign Het
Eno1 A G 4: 150,329,693 (GRCm39) Y189C probably damaging Het
Gnat3 A G 5: 18,208,838 (GRCm39) T181A Het
Kif1b T C 4: 149,306,805 (GRCm39) M852V probably damaging Het
Klk1b26 A T 7: 43,665,508 (GRCm39) I139F probably damaging Het
Loxhd1 G A 18: 77,493,681 (GRCm39) V1547M possibly damaging Het
Lrp4 A G 2: 91,318,790 (GRCm39) T876A probably damaging Het
Malrd1 G T 2: 15,638,035 (GRCm39) W451L unknown Het
Marchf6 A T 15: 31,494,262 (GRCm39) N261K possibly damaging Het
Mcpt2 T C 14: 56,280,250 (GRCm39) C50R probably damaging Het
Muc16 A G 9: 18,569,981 (GRCm39) V846A unknown Het
Muc5b A T 7: 141,414,602 (GRCm39) D2516V unknown Het
Myh15 T C 16: 48,913,120 (GRCm39) L359P probably benign Het
Nemp1 G A 10: 127,528,898 (GRCm39) V201I probably benign Het
Nr2e1 A T 10: 42,444,425 (GRCm39) L228Q probably damaging Het
Nrg1 C A 8: 32,312,334 (GRCm39) V388L probably benign Het
Nrg3 T A 14: 38,734,053 (GRCm39) T278S probably damaging Het
Numb T C 12: 83,854,990 (GRCm39) E112G probably benign Het
Or1l4b T C 2: 37,036,778 (GRCm39) S185P probably damaging Het
Or8g2b A C 9: 39,751,612 (GRCm39) N294T probably damaging Het
Pdlim2 C A 14: 70,403,563 (GRCm39) C283F probably damaging Het
Potegl T A 2: 23,147,017 (GRCm39) probably null Het
Ppm1a G A 12: 72,830,909 (GRCm39) G145R probably damaging Het
Pramel14 T A 4: 143,720,809 (GRCm39) D44V probably benign Het
Pramel18 A T 4: 101,767,581 (GRCm39) M277L probably benign Het
Prune2 C A 19: 17,103,027 (GRCm39) Q2729K probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn9a G T 2: 66,366,626 (GRCm39) T719K probably benign Het
Slc12a7 T C 13: 73,933,281 (GRCm39) V113A probably benign Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc37a2 A T 9: 37,149,510 (GRCm39) probably null Het
Steap1 G A 5: 5,790,816 (GRCm39) S44L probably benign Het
Sucnr1 C T 3: 59,994,155 (GRCm39) R228C probably damaging Het
Sult3a1 G A 10: 33,742,517 (GRCm39) G48D probably damaging Het
Syn3 A T 10: 86,302,891 (GRCm39) V88D probably damaging Het
Syne1 T C 10: 5,058,622 (GRCm39) D7297G probably benign Het
Tmco5 T C 2: 116,710,734 (GRCm39) I18T probably damaging Het
Trpc1 A G 9: 95,608,601 (GRCm39) L230P probably damaging Het
Ttn T C 2: 76,719,785 (GRCm39) N7108S unknown Het
Ubr5 A G 15: 38,025,081 (GRCm39) V559A Het
Ugt1a7c T C 1: 88,022,973 (GRCm39) V44A possibly damaging Het
Vmn2r60 A T 7: 41,790,494 (GRCm39) S494C 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCTCCAGAGCTTCCTTTGG -3'
(R):5'- TAGCAGAGTACTCCTTGGTTGAC -3'

Sequencing Primer
(F):5'- CCAGAGCTTCCTTTGGATATCTTGG -3'
(R):5'- CAGAGTACTCCTTGGTTGACACAGG -3'
Posted On 2020-09-02