Incidental Mutation 'IGL00418:Dpyd'
ID 6764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Name dihydropyrimidine dehydrogenase
Synonyms E330028L06Rik, DPD
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00418
Quality Score
Status
Chromosome 3
Chromosomal Location 118355778-119226573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118737891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 477 (F477L)
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177]
AlphaFold Q8CHR6
Predicted Effect probably damaging
Transcript: ENSMUST00000039177
AA Change: F477L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: F477L

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,095,748 (GRCm39) I238T probably damaging Het
Akap4 T C X: 6,942,729 (GRCm39) V344A possibly damaging Het
Apex2 T C X: 149,355,048 (GRCm39) K430E probably benign Het
Aqp9 C T 9: 71,040,013 (GRCm39) A90T probably damaging Het
Asb15 T A 6: 24,558,642 (GRCm39) probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Bspry G T 4: 62,414,342 (GRCm39) D312Y probably benign Het
Cdh16 G A 8: 105,350,045 (GRCm39) R5W probably benign Het
Ciz1 C T 2: 32,262,400 (GRCm39) R461C probably damaging Het
Cldn14 T A 16: 93,716,189 (GRCm39) D219V probably benign Het
Clpb A T 7: 101,436,952 (GRCm39) T706S probably benign Het
Cyp2d11 A T 15: 82,276,669 (GRCm39) M90K probably benign Het
Cyp2j8 T A 4: 96,332,853 (GRCm39) I498F possibly damaging Het
Dnah2 A G 11: 69,385,892 (GRCm39) probably benign Het
Dscaml1 C A 9: 45,581,498 (GRCm39) S439* probably null Het
Faxc A G 4: 21,958,490 (GRCm39) K216E possibly damaging Het
Fmo1 C T 1: 162,663,815 (GRCm39) R238Q probably damaging Het
Gm14399 G A 2: 174,973,315 (GRCm39) R147* probably null Het
H2-Ab1 G A 17: 34,486,549 (GRCm39) V203M probably damaging Het
Heatr5b T C 17: 79,060,570 (GRCm39) E2035G probably damaging Het
Hip1 A G 5: 135,455,200 (GRCm39) I786T probably damaging Het
Homer1 T C 13: 93,524,196 (GRCm39) probably benign Het
Igkv9-120 A G 6: 68,026,971 (GRCm39) D2G possibly damaging Het
Irgm1 A T 11: 48,756,832 (GRCm39) Y326* probably null Het
Kctd19 A T 8: 106,115,095 (GRCm39) probably null Het
Large1 T C 8: 73,550,469 (GRCm39) probably null Het
Mzf1 G A 7: 12,778,543 (GRCm39) A287V possibly damaging Het
Nes A T 3: 87,883,561 (GRCm39) K607* probably null Het
Pars2 T A 4: 106,511,247 (GRCm39) V307E probably damaging Het
Pcsk5 T A 19: 17,488,785 (GRCm39) I1012F possibly damaging Het
Pole T C 5: 110,451,431 (GRCm39) probably benign Het
Rbm14 T C 19: 4,852,576 (GRCm39) probably benign Het
Scn2a A T 2: 65,594,866 (GRCm39) Q1905L probably benign Het
Slc26a2 A G 18: 61,331,812 (GRCm39) F540L probably benign Het
Slco2a1 T C 9: 102,956,640 (GRCm39) probably benign Het
Tas2r106 T C 6: 131,654,922 (GRCm39) probably null Het
Tmem175 T A 5: 108,793,732 (GRCm39) D287E probably benign Het
Trappc12 T C 12: 28,787,835 (GRCm39) K416R probably damaging Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Vps13c T A 9: 67,783,544 (GRCm39) N240K probably damaging Het
Wdr90 A C 17: 26,068,338 (GRCm39) I1330S probably damaging Het
Wfdc6a A G 2: 164,426,914 (GRCm39) probably null Het
Zc3h12c C T 9: 52,027,965 (GRCm39) V466M probably damaging Het
Zswim8 A G 14: 20,768,543 (GRCm39) T1025A probably damaging Het
Other mutations in Dpyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20