Incidental Mutation 'R8315:Dpyd'
ID 641617
Institutional Source Beutler Lab
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Name dihydropyrimidine dehydrogenase
Synonyms E330028L06Rik, DPD
MMRRC Submission 067720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8315 (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 T at 119108534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 859 (H859L)
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177]
AlphaFold Q8CHR6
Predicted Effect probably benign
Transcript: ENSMUST00000039177
AA Change: H859L

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: H859L

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: 98.7%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,328,460 (GRCm39) E3511V probably null Het
Abca13 A G 11: 9,535,502 (GRCm39) T4709A probably benign Het
Aff1 G T 5: 103,958,956 (GRCm39) V342F probably damaging Het
Ahnak2 T A 12: 112,745,756 (GRCm39) Q1698L Het
Ajap1 G T 4: 153,516,813 (GRCm39) T176K probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Cct3 A G 3: 88,220,564 (GRCm39) T259A probably benign Het
Cdk8 C T 5: 146,205,061 (GRCm39) L21F probably damaging Het
Cimip4 T C 15: 78,262,686 (GRCm39) R262G probably benign Het
Csf2rb G A 15: 78,231,581 (GRCm39) G494D possibly damaging Het
Cstf3 G T 2: 104,420,926 (GRCm39) probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
Dcp2 T C 18: 44,529,071 (GRCm39) I62T probably benign Het
Dnaaf9 ATCCTCCTCCTCCTCCTCC ATCCTCCTCCTCCTCC 2: 130,612,655 (GRCm39) probably benign Het
Dpp8 T C 9: 64,988,133 (GRCm39) *893Q probably null Het
Dst T C 1: 34,323,501 (GRCm39) probably null Het
Dynlt2a2 A G 17: 15,190,717 (GRCm39) Y81H probably damaging Het
Egfr A G 11: 16,825,027 (GRCm39) I456V probably benign Het
Elf3 A G 1: 135,184,314 (GRCm39) F185L probably benign Het
Emx1 A G 6: 85,171,088 (GRCm39) T164A possibly damaging Het
Fras1 G A 5: 96,891,041 (GRCm39) V2857M probably damaging Het
Gba2 AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA AAA 4: 43,569,937 (GRCm39) probably null Het
Gda T A 19: 21,394,435 (GRCm39) T215S probably benign Het
Gm14443 C T 2: 175,013,640 (GRCm39) probably null Het
Gpr152 C T 19: 4,193,469 (GRCm39) P337S probably damaging Het
H2-T10 A G 17: 36,429,905 (GRCm39) I296T probably benign Het
Hoxd11 G A 2: 74,513,466 (GRCm39) E244K probably benign Het
Inka1 C A 9: 107,861,506 (GRCm39) S270I probably damaging Het
Kazn C T 4: 141,869,002 (GRCm39) D325N Het
Lama2 T C 10: 27,298,655 (GRCm39) N147S probably damaging Het
Lamc1 A T 1: 153,119,167 (GRCm39) N817K probably benign Het
Met T C 6: 17,533,956 (GRCm39) S636P probably damaging Het
Mrgpra3 A T 7: 47,251,051 (GRCm39) M1K probably null Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Or10ag2 C A 2: 87,248,995 (GRCm39) A201D probably damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Or8c13 T C 9: 38,091,505 (GRCm39) T205A probably benign Het
Pbx2 A G 17: 34,811,707 (GRCm39) I60M probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pla2g4a T C 1: 149,761,965 (GRCm39) N164S probably benign Het
Poln A G 5: 34,266,717 (GRCm39) M480T probably benign Het
Ppp2r2a T C 14: 67,261,177 (GRCm39) N181S probably damaging Het
Ppp3r2 A C 4: 49,681,705 (GRCm39) F82V probably damaging Het
Prox2 A G 12: 85,142,182 (GRCm39) V7A probably benign Het
Ptpn3 A T 4: 57,270,063 (GRCm39) I33K possibly damaging Het
Rad21l A T 2: 151,497,160 (GRCm39) M318K probably benign Het
Rftn1 A G 17: 50,309,665 (GRCm39) S445P possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Rtp4 C T 16: 23,431,998 (GRCm39) P177S possibly damaging Het
Saa4 T A 7: 46,379,052 (GRCm39) N96I possibly damaging Het
Shb A G 4: 45,489,079 (GRCm39) Y266H probably damaging Het
Slc45a4 T G 15: 73,461,405 (GRCm39) Y88S probably damaging Het
Tbccd1 A G 16: 22,641,564 (GRCm39) M312T probably damaging Het
Tecta C T 9: 42,299,121 (GRCm39) probably null Het
Tle1 A T 4: 72,044,428 (GRCm39) C526* probably null Het
Tmem87a C T 2: 120,234,441 (GRCm39) G34D probably damaging Het
Trav13d-1 C A 14: 53,089,059 (GRCm39) Q23K probably benign Het
Txndc11 G T 16: 10,893,465 (GRCm39) T755N possibly damaging Het
Vmn1r223 A G 13: 23,434,339 (GRCm39) D311G probably damaging Het
Vmn2r66 T A 7: 84,643,932 (GRCm39) Y826F possibly damaging Het
Wdr90 A T 17: 26,064,399 (GRCm39) M1824K probably benign Het
Zfp523 G A 17: 28,421,562 (GRCm39) G440D 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
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'- CTATCTGAAGAGATTGCTTTTGGTC -3'
(R):5'- ACATAGCTGTAATCAAGCCTGC -3'

Sequencing Primer
(F):5'- AAGAGATTGCTTTTGGTCTGATGTTC -3'
(R):5'- GCCTGCTTCAGAAAGATTCTACTGG -3'
Posted On 2020-07-28