Incidental Mutation 'R0523:Dpyd'
ID 48684
Institutional Source Beutler Lab
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Name dihydropyrimidine dehydrogenase
Synonyms E330028L06Rik, DPD
MMRRC Submission 038716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0523 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 118355778-119226573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118692852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 332 (R332K)
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177]
AlphaFold Q8CHR6
Predicted Effect probably benign
Transcript: ENSMUST00000039177
AA Change: R332K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: R332K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129148
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,289 (GRCm39) D807G possibly damaging Het
Actl9 T A 17: 33,652,323 (GRCm39) W128R probably damaging Het
Aggf1 T C 13: 95,492,924 (GRCm39) I562V probably damaging Het
Ano3 T A 2: 110,715,200 (GRCm39) E79D probably benign Het
Apobec1 T A 6: 122,558,504 (GRCm39) I84F probably damaging Het
Atp6v1b2 T C 8: 69,562,637 (GRCm39) F458L possibly damaging Het
Bco2 A T 9: 50,445,926 (GRCm39) V490E probably damaging Het
Catsperg1 G A 7: 28,884,615 (GRCm39) probably benign Het
Cdc37 T C 9: 21,054,292 (GRCm39) K111R probably damaging Het
Cfap54 T C 10: 92,744,745 (GRCm39) probably benign Het
Cfap91 G A 16: 38,148,736 (GRCm39) P231S probably damaging Het
Cplane1 T A 15: 8,223,870 (GRCm39) Y878N probably damaging Het
Cpox T A 16: 58,495,608 (GRCm39) C308* probably null Het
Cracdl A T 1: 37,683,710 (GRCm39) M1K probably null Het
Ctnna3 T G 10: 64,511,688 (GRCm39) M626R probably damaging Het
Cyp2c68 T C 19: 39,727,873 (GRCm39) E93G probably benign Het
Cyp2s1 G A 7: 25,505,475 (GRCm39) R330W probably damaging Het
Diaph1 C T 18: 37,989,553 (GRCm39) V860I possibly damaging Het
Dicer1 A G 12: 104,668,750 (GRCm39) S1311P probably damaging Het
E130308A19Rik G A 4: 59,719,716 (GRCm39) R416H probably damaging Het
Eef1d T C 15: 75,775,005 (GRCm39) D218G probably benign Het
Eif2ak1 T C 5: 143,818,984 (GRCm39) V215A probably damaging Het
Eif2ak4 T C 2: 118,272,577 (GRCm39) probably null Het
Fcrl5 T C 3: 87,365,099 (GRCm39) S583P possibly damaging Het
Garin5b A G 7: 4,762,392 (GRCm39) S246P possibly damaging Het
Grid2ip C A 5: 143,358,798 (GRCm39) Q29K possibly damaging Het
Htr1f A T 16: 64,746,262 (GRCm39) N343K probably damaging Het
Hvcn1 T C 5: 122,354,428 (GRCm39) probably null Het
Igf2r T C 17: 12,910,951 (GRCm39) I1956V probably benign Het
Impdh2 A T 9: 108,439,018 (GRCm39) probably null Het
Impdh2 C T 9: 108,439,019 (GRCm39) T96I possibly damaging Het
Lactb C G 9: 66,877,974 (GRCm39) G285A probably benign Het
Lrrc43 T C 5: 123,639,305 (GRCm39) S445P probably damaging Het
Mapk12 T G 15: 89,019,848 (GRCm39) M120L probably benign Het
Mroh8 C G 2: 157,065,956 (GRCm39) A669P probably damaging Het
Mrpl38 A C 11: 116,022,844 (GRCm39) H373Q probably benign Het
Myocd A G 11: 65,071,728 (GRCm39) V740A probably damaging Het
Naprt A G 15: 75,764,314 (GRCm39) F300S probably damaging Het
Ncam2 T C 16: 81,258,531 (GRCm39) I271T probably damaging Het
Nek4 A G 14: 30,701,995 (GRCm39) T582A probably benign Het
Notch2 C T 3: 97,978,286 (GRCm39) T89I probably benign Het
Notch2 G A 3: 98,018,914 (GRCm39) R692H probably benign Het
Nt5c3 A T 6: 56,860,666 (GRCm39) N296K probably damaging Het
Nt5c3b T A 11: 100,327,036 (GRCm39) I87F probably damaging Het
Oas3 T C 5: 120,904,209 (GRCm39) Q555R unknown Het
Or2ag17 A G 7: 106,389,533 (GRCm39) V225A probably damaging Het
Or5p69 A T 7: 107,967,438 (GRCm39) H247L probably damaging Het
Or9g19 T A 2: 85,600,273 (GRCm39) S43T probably benign Het
P3h1 C A 4: 119,098,727 (GRCm39) Q410K probably benign Het
Pax3 A G 1: 78,172,078 (GRCm39) V44A possibly damaging Het
Pde1c T A 6: 56,151,926 (GRCm39) L252F probably damaging Het
Pdzd7 T A 19: 45,024,529 (GRCm39) T497S probably benign Het
Piezo2 T C 18: 63,155,552 (GRCm39) T253A probably damaging Het
Pipox T C 11: 77,782,965 (GRCm39) E79G probably damaging Het
Pole G T 5: 110,451,459 (GRCm39) M829I probably damaging Het
Ppp1r12c A T 7: 4,492,771 (GRCm39) L156Q probably damaging Het
Psme2b T G 11: 48,836,609 (GRCm39) T113P probably damaging Het
Ptprq A G 10: 107,416,081 (GRCm39) I1739T possibly damaging Het
Qser1 T C 2: 104,620,021 (GRCm39) T174A probably damaging Het
Rcor3 T G 1: 191,814,736 (GRCm39) D81A probably damaging Het
Rev3l T C 10: 39,724,045 (GRCm39) V785A probably benign Het
Rnf11 T C 4: 109,314,119 (GRCm39) D90G probably benign Het
Sh3tc1 GCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCC 5: 35,881,410 (GRCm39) probably benign Het
Smad2 T A 18: 76,395,623 (GRCm39) S21T probably benign Het
Smc4 A G 3: 68,933,221 (GRCm39) D639G probably damaging Het
Smtn A T 11: 3,474,664 (GRCm39) S716T possibly damaging Het
Smug1 G T 15: 103,064,136 (GRCm39) Q262K probably benign Het
Sspo G T 6: 48,428,794 (GRCm39) G403V probably benign Het
Tas2r131 A G 6: 132,934,414 (GRCm39) F132L possibly damaging Het
Tgm3 T C 2: 129,886,582 (GRCm39) probably null Het
Tigd2 C T 6: 59,187,358 (GRCm39) T75M probably benign Het
Tnfrsf13b T C 11: 61,038,413 (GRCm39) V232A probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trim47 A G 11: 115,998,716 (GRCm39) L301S probably damaging Het
Trim75 G A 8: 65,436,442 (GRCm39) H3Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Tsbp1 G T 17: 34,664,473 (GRCm39) probably null Het
Ttc29 G C 8: 79,003,466 (GRCm39) L227F probably benign Het
Ttc39d G A 17: 80,523,886 (GRCm39) D182N possibly damaging Het
Ttll10 T A 4: 156,129,818 (GRCm39) R164* probably null Het
Ufsp2 T A 8: 46,449,780 (GRCm39) D447E probably benign Het
Ugt2b37 T A 5: 87,399,691 (GRCm39) L272F possibly damaging Het
Vps13b T C 15: 35,472,196 (GRCm39) V833A probably benign Het
Zbbx T C 3: 74,989,165 (GRCm39) T308A probably benign Het
Zfp933 G A 4: 147,910,919 (GRCm39) Q226* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACCCTGGAAAACTGCAAGATGCAA -3'
(R):5'- AGCTCTTTTAAAGTGCTCTGCTGCAA -3'

Sequencing Primer
(F):5'- CTGCAAGATGCAATTTTACAGTGC -3'
(R):5'- GCATATCAACAGTGTCATTGCC -3'
Posted On 2013-06-12