Incidental Mutation 'R5587:Dpyd'
ID 438799
Institutional Source Beutler Lab
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Name dihydropyrimidine dehydrogenase
Synonyms DPD, E330028L06Rik
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5587 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 118562129-119432924 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119064951 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 605 (S605R)
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177]
AlphaFold Q8CHR6
Predicted Effect probably damaging
Transcript: ENSMUST00000039177
AA Change: S605R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: S605R

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 0.2728 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,065,409 (GRCm38) R120G probably benign Het
4930548H24Rik G T 5: 31,486,084 (GRCm38) G53W probably benign Het
Acad11 A G 9: 104,063,767 (GRCm38) T3A probably benign Het
Adamts18 G A 8: 113,775,360 (GRCm38) Q290* probably null Het
Ahnak A G 19: 9,009,476 (GRCm38) D2708G possibly damaging Het
Asxl3 T A 18: 22,525,247 (GRCm38) C2105S probably benign Het
Atp8b1 A T 18: 64,539,210 (GRCm38) F1028I probably damaging Het
Axdnd1 C G 1: 156,351,412 (GRCm38) W615C probably damaging Het
Bcl3 A T 7: 19,809,634 (GRCm38) Y10* probably null Het
Bmp2 T A 2: 133,554,646 (GRCm38) V74E possibly damaging Het
Ccdc78 C A 17: 25,786,677 (GRCm38) P21Q probably benign Het
Cluap1 T A 16: 3,915,484 (GRCm38) V199E probably damaging Het
Cntnap3 T C 13: 64,746,738 (GRCm38) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm38) W1330R unknown Het
Coq4 A G 2: 29,795,514 (GRCm38) probably null Het
Cwf19l1 G A 19: 44,120,877 (GRCm38) T346I possibly damaging Het
Cyct T C 2: 76,354,203 (GRCm38) Y68C probably damaging Het
Dnah10 T C 5: 124,793,913 (GRCm38) L2368P probably benign Het
Dnah2 A T 11: 69,437,242 (GRCm38) F3346I probably damaging Het
Dpp3 A T 19: 4,918,267 (GRCm38) V259E probably damaging Het
Emc1 A G 4: 139,362,148 (GRCm38) E209G probably damaging Het
Esrra A G 19: 6,920,207 (GRCm38) S61P probably benign Het
Fam71d C A 12: 78,715,075 (GRCm38) P171H probably damaging Het
Gbx2 T A 1: 89,933,122 (GRCm38) probably benign Het
Hepacam A G 9: 37,384,684 (GRCm38) H377R probably damaging Het
Igkv12-46 T C 6: 69,764,550 (GRCm38) Y107C probably damaging Het
Intu A G 3: 40,675,308 (GRCm38) D356G probably damaging Het
Izumo4 A T 10: 80,703,220 (GRCm38) N113Y probably damaging Het
Krt86 G A 15: 101,473,593 (GRCm38) A15T probably benign Het
Lhx8 A T 3: 154,311,679 (GRCm38) S275R probably damaging Het
Lingo3 A T 10: 80,835,530 (GRCm38) S189T probably damaging Het
Llgl1 T A 11: 60,710,342 (GRCm38) M702K probably benign Het
Lpin1 T C 12: 16,573,714 (GRCm38) Y223C Het
Lrit3 G T 3: 129,788,898 (GRCm38) A359E probably benign Het
Lrp2 T C 2: 69,499,263 (GRCm38) E1720G probably benign Het
Mcub A C 3: 129,916,970 (GRCm38) V271G probably benign Het
Nktr C T 9: 121,748,489 (GRCm38) probably benign Het
Olfr1342 T A 4: 118,689,870 (GRCm38) D194V probably damaging Het
Olfr1502 G A 19: 13,862,576 (GRCm38) R261H probably damaging Het
Olfr347 A T 2: 36,734,621 (GRCm38) Q100L probably damaging Het
Olfr617 T A 7: 103,584,531 (GRCm38) Y170N probably benign Het
Olfr979 A T 9: 40,000,621 (GRCm38) I202N possibly damaging Het
Olfr984 A T 9: 40,101,244 (GRCm38) L82Q probably damaging Het
Pcdha4 T C 18: 36,954,822 (GRCm38) V686A probably benign Het
Pelo A G 13: 115,089,873 (GRCm38) V16A possibly damaging Het
Plcd1 A G 9: 119,073,832 (GRCm38) S539P probably benign Het
Prss1 A G 6: 41,463,265 (GRCm38) I179V possibly damaging Het
Ptgs2 T C 1: 150,105,555 (GRCm38) Y530H probably damaging Het
Rai1 T C 11: 60,189,859 (GRCm38) V1583A probably damaging Het
Raph1 T G 1: 60,498,473 (GRCm38) D508A probably damaging Het
Rmnd5a A G 6: 71,394,619 (GRCm38) probably benign Het
Rsf1 T C 7: 97,662,121 (GRCm38) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm38) I1323M possibly damaging Het
Scn1a T C 2: 66,273,081 (GRCm38) N1934S probably benign Het
Sec23ip C T 7: 128,750,427 (GRCm38) H176Y probably benign Het
Sh3glb2 A G 2: 30,354,851 (GRCm38) probably null Het
Sis A G 3: 72,914,576 (GRCm38) I1384T possibly damaging Het
Spata31d1a A C 13: 59,702,618 (GRCm38) C565W probably damaging Het
Srbd1 T A 17: 86,127,801 (GRCm38) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm38) H345R unknown Het
Suox A T 10: 128,671,825 (GRCm38) D111E probably damaging Het
Taar7a A T 10: 23,992,828 (GRCm38) F218L probably benign Het
Tfcp2l1 C A 1: 118,664,762 (GRCm38) N288K possibly damaging Het
Tmem128 G T 5: 38,260,421 (GRCm38) R7L possibly damaging Het
Tmem266 A G 9: 55,437,566 (GRCm38) N494S probably damaging Het
Tmprss3 T A 17: 31,193,992 (GRCm38) H80L probably benign Het
Tnrc6c C T 11: 117,749,271 (GRCm38) Q1211* probably null Het
Tns1 T A 1: 73,920,596 (GRCm38) D1671V possibly damaging Het
Trmt1l T A 1: 151,435,704 (GRCm38) probably benign Het
Tshz2 A T 2: 169,884,342 (GRCm38) D286V probably damaging Het
Ttyh2 A G 11: 114,675,659 (GRCm38) E39G probably benign Het
Vmn2r125 G A 4: 156,350,138 (GRCm38) C73Y probably damaging Het
Vmn2r5 T C 3: 64,504,076 (GRCm38) D357G probably damaging Het
Vmn2r61 T C 7: 42,300,487 (GRCm38) F777S probably damaging Het
Vmn2r9 T C 5: 108,847,561 (GRCm38) E407G probably damaging Het
Vwa3a A G 7: 120,780,235 (GRCm38) N521S probably damaging Het
Zan C G 5: 137,391,762 (GRCm38) S4816T unknown Het
Zc3h7b T C 15: 81,771,858 (GRCm38) Y136H possibly damaging Het
Zfp101 T C 17: 33,381,321 (GRCm38) K487R possibly damaging Het
Other mutations in Dpyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Dpyd APN 3 118,944,242 (GRCm38) missense probably damaging 1.00
IGL00508:Dpyd APN 3 119,064,987 (GRCm38) missense probably benign 0.06
IGL02113:Dpyd APN 3 118,999,219 (GRCm38) missense probably benign 0.06
IGL02177:Dpyd APN 3 119,064,910 (GRCm38) missense possibly damaging 0.76
IGL03001:Dpyd APN 3 118,917,242 (GRCm38) missense probably benign 0.07
IGL03106:Dpyd APN 3 119,195,134 (GRCm38) missense probably benign 0.03
IGL03399:Dpyd APN 3 119,314,777 (GRCm38) missense probably damaging 0.98
F5770:Dpyd UTSW 3 118,897,126 (GRCm38) nonsense probably null
F6893:Dpyd UTSW 3 118,804,134 (GRCm38) critical splice donor site probably null
R0014:Dpyd UTSW 3 119,141,935 (GRCm38) missense probably damaging 1.00
R0081:Dpyd UTSW 3 118,944,255 (GRCm38) missense probably benign 0.00
R0267:Dpyd UTSW 3 118,917,272 (GRCm38) missense probably benign
R0349:Dpyd UTSW 3 118,917,099 (GRCm38) nonsense probably null
R0387:Dpyd UTSW 3 119,427,226 (GRCm38) missense probably benign 0.21
R0523:Dpyd UTSW 3 118,899,203 (GRCm38) missense probably benign
R0555:Dpyd UTSW 3 119,431,542 (GRCm38) missense probably damaging 1.00
R0652:Dpyd UTSW 3 119,427,275 (GRCm38) missense probably damaging 1.00
R0741:Dpyd UTSW 3 118,674,505 (GRCm38) missense possibly damaging 0.79
R1313:Dpyd UTSW 3 118,899,161 (GRCm38) splice site probably benign
R1554:Dpyd UTSW 3 119,065,046 (GRCm38) splice site probably null
R1610:Dpyd UTSW 3 119,065,006 (GRCm38) missense probably benign
R1710:Dpyd UTSW 3 118,610,443 (GRCm38) critical splice acceptor site probably null
R1861:Dpyd UTSW 3 118,917,131 (GRCm38) missense probably damaging 1.00
R2103:Dpyd UTSW 3 119,064,952 (GRCm38) missense probably benign 0.02
R2130:Dpyd UTSW 3 118,674,568 (GRCm38) missense probably benign
R2131:Dpyd UTSW 3 118,674,568 (GRCm38) missense probably benign
R2882:Dpyd UTSW 3 119,065,030 (GRCm38) missense probably damaging 0.99
R3771:Dpyd UTSW 3 119,412,278 (GRCm38) critical splice donor site probably null
R3978:Dpyd UTSW 3 118,897,089 (GRCm38) critical splice acceptor site probably benign
R3978:Dpyd UTSW 3 118,897,088 (GRCm38) critical splice acceptor site probably benign
R4030:Dpyd UTSW 3 118,897,166 (GRCm38) missense probably benign 0.03
R4065:Dpyd UTSW 3 118,897,089 (GRCm38) critical splice acceptor site probably benign
R4066:Dpyd UTSW 3 118,897,089 (GRCm38) critical splice acceptor site probably benign
R4234:Dpyd UTSW 3 119,431,584 (GRCm38) missense probably damaging 1.00
R4502:Dpyd UTSW 3 118,797,537 (GRCm38) missense probably damaging 1.00
R4638:Dpyd UTSW 3 119,266,077 (GRCm38) missense probably benign 0.03
R4980:Dpyd UTSW 3 118,917,118 (GRCm38) missense probably damaging 0.99
R5262:Dpyd UTSW 3 118,797,422 (GRCm38) nonsense probably null
R5348:Dpyd UTSW 3 118,781,943 (GRCm38) missense probably benign
R5611:Dpyd UTSW 3 119,194,293 (GRCm38) missense probably benign
R5665:Dpyd UTSW 3 118,917,092 (GRCm38) missense probably damaging 1.00
R5716:Dpyd UTSW 3 118,899,179 (GRCm38) missense probably damaging 1.00
R5786:Dpyd UTSW 3 119,427,237 (GRCm38) missense probably damaging 0.97
R6046:Dpyd UTSW 3 119,431,575 (GRCm38) missense probably benign 0.01
R6404:Dpyd UTSW 3 119,265,957 (GRCm38) missense probably benign 0.02
R6703:Dpyd UTSW 3 118,897,200 (GRCm38) splice site probably null
R7037:Dpyd UTSW 3 118,899,289 (GRCm38) missense probably benign 0.00
R7215:Dpyd UTSW 3 119,266,032 (GRCm38) missense probably benign 0.11
R7301:Dpyd UTSW 3 118,899,284 (GRCm38) missense possibly damaging 0.90
R7336:Dpyd UTSW 3 119,064,921 (GRCm38) missense probably damaging 1.00
R7714:Dpyd UTSW 3 118,804,131 (GRCm38) missense probably benign 0.01
R8238:Dpyd UTSW 3 119,195,193 (GRCm38) splice site probably null
R8306:Dpyd UTSW 3 119,412,173 (GRCm38) missense probably benign
R8315:Dpyd UTSW 3 119,314,885 (GRCm38) missense probably benign 0.09
R8321:Dpyd UTSW 3 118,781,924 (GRCm38) missense possibly damaging 0.84
R8342:Dpyd UTSW 3 119,314,803 (GRCm38) missense possibly damaging 0.60
R8735:Dpyd UTSW 3 119,141,916 (GRCm38) missense possibly damaging 0.74
R8750:Dpyd UTSW 3 119,141,936 (GRCm38) missense probably damaging 1.00
R8874:Dpyd UTSW 3 118,999,332 (GRCm38) missense probably damaging 1.00
R8910:Dpyd UTSW 3 118,610,518 (GRCm38) missense probably benign 0.17
R8973:Dpyd UTSW 3 119,314,933 (GRCm38) critical splice donor site probably null
R9070:Dpyd UTSW 3 118,999,243 (GRCm38) missense probably damaging 0.98
R9132:Dpyd UTSW 3 118,917,248 (GRCm38) missense probably damaging 1.00
R9198:Dpyd UTSW 3 118,759,654 (GRCm38) critical splice acceptor site probably null
R9260:Dpyd UTSW 3 119,314,798 (GRCm38) missense possibly damaging 0.95
R9307:Dpyd UTSW 3 119,314,911 (GRCm38) missense probably benign
V7581:Dpyd UTSW 3 118,897,126 (GRCm38) nonsense probably null
V7582:Dpyd UTSW 3 118,897,126 (GRCm38) nonsense probably null
V7583:Dpyd UTSW 3 118,897,126 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGCAGTAAGTTAGCAAAAGCTAAG -3'
(R):5'- TGCATCAGCCAAGCAACTGG -3'

Sequencing Primer
(F):5'- AACCTCATCTGGAAAAATGTGAG -3'
(R):5'- CACTTACATTGTCCGGGA -3'
Posted On 2016-10-26