Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02177:Dpyd'

283155

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 #

IGL02177

Quality Score

Status

Chromosome

Chromosomal Location

118355778-119226573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118858559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 591 (I591N)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039177
AA Change: I591N

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: I591N

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	G	19: 53,205,323 (GRCm39)	Y24*	probably null	Het
Catsperb	A	G	12: 101,507,721 (GRCm39)	Y496C	probably damaging	Het
Ccdc183	C	T	2: 25,502,095 (GRCm39)	E260K	probably benign	Het
Ccdc81	A	C	7: 89,524,988 (GRCm39)	M531R	possibly damaging	Het
Cyp3a16	T	A	5: 145,386,964 (GRCm39)	N342I	probably benign	Het
Defb43	T	C	14: 63,249,266 (GRCm39)	V3A	probably benign	Het
Dpysl5	T	G	5: 30,902,622 (GRCm39)	V18G	probably damaging	Het
Erc2	A	T	14: 27,620,580 (GRCm39)	M69L	probably benign	Het
Fam184b	G	T	5: 45,690,157 (GRCm39)	Y817*	probably null	Het
Fyb1	G	T	15: 6,688,047 (GRCm39)		probably null	Het
Gpr33	G	T	12: 52,070,863 (GRCm39)	Q59K	probably benign	Het
Heatr3	T	G	8: 88,883,351 (GRCm39)	F278V	probably benign	Het
Hectd1	A	T	12: 51,819,103 (GRCm39)	D1292E	probably damaging	Het
Herc1	A	T	9: 66,341,793 (GRCm39)	M1861L	probably benign	Het
Hspg2	T	A	4: 137,242,627 (GRCm39)	L614Q	probably damaging	Het
Itpr3	A	G	17: 27,318,588 (GRCm39)	R915G	possibly damaging	Het
Jhy	T	C	9: 40,809,553 (GRCm39)	D646G	probably damaging	Het
Lrig1	T	A	6: 94,640,977 (GRCm39)	N76I	possibly damaging	Het
Macc1	A	G	12: 119,429,292 (GRCm39)	D814G	probably damaging	Het
Mapk8ip1	T	C	2: 92,217,092 (GRCm39)	D401G	probably damaging	Het
Nedd4	T	A	9: 72,654,439 (GRCm39)	S865T	probably damaging	Het
Or9s27	G	A	1: 92,516,479 (GRCm39)	M142I	possibly damaging	Het
Pi4ka	A	T	16: 17,136,146 (GRCm39)	D937E	probably benign	Het
Prkcd	T	A	14: 30,327,844 (GRCm39)	I81F	probably damaging	Het
Ranbp9	A	T	13: 43,573,193 (GRCm39)	C280S	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scn1b	T	C	7: 30,816,655 (GRCm39)	*219W	probably null	Het
Slain2	T	C	5: 73,072,008 (GRCm39)	V14A	probably benign	Het
Soat1	A	T	1: 156,268,073 (GRCm39)		probably benign	Het
Tbc1d4	T	A	14: 101,692,375 (GRCm39)	M1030L	possibly damaging	Het
Tenm4	T	C	7: 96,544,869 (GRCm39)	V2295A	probably benign	Het
Tmem135	A	G	7: 88,987,661 (GRCm39)	Y46H	probably damaging	Het
Tnfsf18	A	T	1: 161,331,354 (GRCm39)	D168V	probably damaging	Het
Trdn	T	C	10: 33,015,169 (GRCm39)	V41A	probably damaging	Het
Trpc5	G	T	X: 143,264,234 (GRCm39)	L208I	probably damaging	Het
Vmn1r50	T	C	6: 90,085,139 (GRCm39)	Y295H	probably benign	Het
Vmn2r18	T	G	5: 151,510,274 (GRCm39)	H33P	possibly damaging	Het
Vmn2r84	T	C	10: 130,227,881 (GRCm39)	I118M	probably benign	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
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

2015-04-16