Incidental Mutation 'R8910:Dpyd'
ID 678538
Institutional Source Beutler Lab
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Name dihydropyrimidine dehydrogenase
Synonyms E330028L06Rik, DPD
MMRRC Submission 068701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8910 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 118355778-119226573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118404167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 38 (K38R)
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177] [ENSMUST00000149101]
AlphaFold Q8CHR6
Predicted Effect probably benign
Transcript: ENSMUST00000039177
AA Change: K38R

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: K38R

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 probably benign
Transcript: ENSMUST00000149101
AA Change: K38R

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143022
Gene: ENSMUSG00000033308
AA Change: K38R

DomainStartEndE-ValueType
PDB:1H7X|D 1 78 2e-40 PDB
SCOP:d1gtea1 2 78 3e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
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
2210408I21Rik A G 13: 77,471,768 (GRCm39) I1058V probably benign Het
Abca5 T C 11: 110,189,030 (GRCm39) E809G probably damaging Het
Akap12 A T 10: 4,263,822 (GRCm39) Q77L probably benign Het
Aldh5a1 A G 13: 25,102,599 (GRCm39) V288A probably damaging Het
Alox5 C A 6: 116,389,510 (GRCm39) E586* probably null Het
Anxa2r1 T A 13: 120,508,356 (GRCm39) probably benign Het
Arid5b A G 10: 67,934,108 (GRCm39) F598S Het
Btc A C 5: 91,508,671 (GRCm39) M157R probably benign Het
Cadps2 T C 6: 23,344,223 (GRCm39) N908S probably benign Het
Cd244a C A 1: 171,386,941 (GRCm39) H17N probably damaging Het
Cdh15 T C 8: 123,575,240 (GRCm39) L5P probably benign Het
Cep15 A G 14: 12,285,444 (GRCm38) H10R probably benign Het
Cept1 A C 3: 106,446,565 (GRCm39) S94A probably benign Het
Cntn4 T C 6: 106,632,497 (GRCm39) M507T probably benign Het
Cpne4 A G 9: 104,799,706 (GRCm39) probably benign Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dlgap1 C T 17: 71,093,815 (GRCm39) T712I probably damaging Het
Dnhd1 A C 7: 105,332,904 (GRCm39) H155P possibly damaging Het
Evx1 C T 6: 52,293,746 (GRCm39) R305C probably damaging Het
Ezr A G 17: 7,023,299 (GRCm39) L47P probably damaging Het
Fabp6 C T 11: 43,492,335 (GRCm39) A2T possibly damaging Het
Fam78a G A 2: 31,959,681 (GRCm39) T143M probably damaging Het
Fam83h C T 15: 75,874,844 (GRCm39) G831D probably benign Het
Fermt2 G A 14: 45,702,389 (GRCm39) A465V probably damaging Het
Fras1 T C 5: 96,715,855 (GRCm39) S358P probably benign Het
Frem1 C A 4: 82,868,694 (GRCm39) G1429V probably benign Het
Fst T A 13: 114,590,245 (GRCm39) probably benign Het
Gfpt1 T C 6: 87,030,787 (GRCm39) I57T probably benign Het
Gimap6 A G 6: 48,679,388 (GRCm39) I216T probably damaging Het
Gm10267 T A 18: 44,289,511 (GRCm39) N73I possibly damaging Het
H2-M2 G A 17: 37,792,413 (GRCm39) T286I probably damaging Het
Hgs T C 11: 120,369,202 (GRCm39) probably null Het
Klra6 T C 6: 129,993,647 (GRCm39) E208G probably benign Het
L3mbtl1 A T 2: 162,812,213 (GRCm39) T753S probably benign Het
Larp6 A G 9: 60,620,526 (GRCm39) E13G probably benign Het
Mroh2b A G 15: 4,960,855 (GRCm39) I806V probably benign Het
Myo1g T C 11: 6,468,009 (GRCm39) N142S possibly damaging Het
Myo3a A G 2: 22,464,280 (GRCm39) T1112A probably benign Het
Or4b1b C A 2: 90,126,848 (GRCm39) R119L possibly damaging Het
Pelp1 A T 11: 70,287,461 (GRCm39) M449K probably damaging Het
Ppp4r1 T C 17: 66,144,768 (GRCm39) V795A probably damaging Het
Ppp4r3b G T 11: 29,146,290 (GRCm39) M372I probably null Het
Ptprk T C 10: 28,368,993 (GRCm39) V655A possibly damaging Het
Rad51d T C 11: 82,773,793 (GRCm39) R166G probably damaging Het
Rbm19 T A 5: 120,271,844 (GRCm39) Y650N probably damaging Het
Rreb1 A G 13: 38,132,741 (GRCm39) K204E Het
Ryr1 A G 7: 28,771,340 (GRCm39) L2567P probably damaging Het
Scn3a T A 2: 65,338,883 (GRCm39) S599C probably damaging Het
Slc7a15 T A 12: 8,589,117 (GRCm39) probably benign Het
Taf6 T C 5: 138,182,716 (GRCm39) T12A probably benign Het
Tbc1d10b T C 7: 126,806,938 (GRCm39) T200A probably benign Het
Tex21 C T 12: 76,263,533 (GRCm39) probably benign Het
Thap4 T C 1: 93,642,666 (GRCm39) H515R probably damaging Het
Tmem94 A G 11: 115,688,252 (GRCm39) Q1237R probably damaging Het
Tppp3 A G 8: 106,194,924 (GRCm39) V69A probably benign Het
Unc5a A G 13: 55,151,401 (GRCm39) E695G possibly damaging Het
Wtip G A 7: 33,832,063 (GRCm39) P141L possibly damaging Het
Wwp1 A T 4: 19,627,741 (GRCm39) M718K possibly damaging Het
Zbtb25 A C 12: 76,395,908 (GRCm39) V438G probably damaging Het
Zfp444 T C 7: 6,187,026 (GRCm39) L46P probably damaging Het
Zfp521 T C 18: 13,977,233 (GRCm39) H1060R probably benign Het
Zkscan14 A G 5: 145,132,190 (GRCm39) F447S 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
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'- CTCTCTTTAGGGAAATTGAGTGATC -3'
(R):5'- CAGCATGCTCTCATCGTACATAAC -3'

Sequencing Primer
(F):5'- ATCCTGGCTTTAAACCCTC -3'
(R):5'- CGAAGCATCAAAAACTTGTTTGCAG -3'
Posted On 2021-08-02