Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Dpyd'

227926

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

E330028L06Rik, DPD

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118355778-119226573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118468217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 77 (V77A)

Ref Sequence

ENSEMBL: ENSMUSP00000143022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039177] [ENSMUST00000149101]

AlphaFold

Q8CHR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: V77A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: V77A

Domain	Start	End	E-Value	Type
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: ENSMUST00000126254

Predicted Effect

probably benign
Transcript: ENSMUST00000149101
AA Change: V77A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143022
Gene: ENSMUSG00000033308
AA Change: V77A

Domain	Start	End	E-Value	Type
PDB:1H7X\|D	1	78	2e-40	PDB
SCOP:d1gtea1	2	78	3e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150950

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apaf1	A	T	10: 90,896,027 (GRCm39)	Y348*	probably null	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,040,894 (GRCm39)	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,232,068 (GRCm39)	F214S	probably damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	Het

Other mutations in Dpyd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TACCCAATTAAGCCGCGTG -3'
(R):5'- TGAGGCTTAACATTTATGCAGCTTC -3'

Sequencing Primer
(F):5'- TGAGCCCTTGATCAATACAATCG -3'
(R):5'- TTATGCAGCTTCAAAACCAAAAGTAC -3'

Posted On

2014-09-17