Mutagenetix > Incidental Mutation

Incidental Mutation 'R1554:Dpyd'

170137

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

039593-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 119065046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably null
Transcript: ENSMUST00000039177

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308

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

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,908,902	D70E	possibly damaging	Het
Adamts7	A	T	9: 90,173,650	D152V	probably damaging	Het
Api5	T	C	2: 94,425,643	D233G	probably benign	Het
Btaf1	A	G	19: 36,996,598	D1390G	probably benign	Het
Cep135	G	A	5: 76,634,213	W893*	probably null	Het
Cmtm6	T	A	9: 114,746,482	V153D	possibly damaging	Het
Dnah11	C	T	12: 118,082,499	V1735I	possibly damaging	Het
Dnm1l	T	C	16: 16,341,426	N104S	probably benign	Het
Dtx1	T	C	5: 120,683,321	K387R	probably damaging	Het
Ercc4	A	G	16: 13,147,622	D706G	probably damaging	Het
Fam208b	A	G	13: 3,576,374	V1192A	possibly damaging	Het
Fat2	T	C	11: 55,253,664	N4128S	probably benign	Het
Gm42669	T	A	5: 107,507,787	C639S	possibly damaging	Het
Grk3	T	A	5: 112,969,269	I89L	possibly damaging	Het
Grm8	A	T	6: 28,125,853	D91E	probably benign	Het
Havcr1	C	A	11: 46,752,507	H85N	probably benign	Het
Il12rb1	G	A	8: 70,813,372		probably null	Het
Kif3a	A	G	11: 53,598,327	K117E	probably damaging	Het
Kitl	T	A	10: 100,087,438	F15L	probably benign	Het
Ktn1	T	G	14: 47,695,507	L706R	probably damaging	Het
Lipg	T	C	18: 74,948,047	Y321C	probably damaging	Het
Mapk8ip3	T	C	17: 24,903,059	D710G	probably benign	Het
Mb21d1	A	T	9: 78,435,556	S321R	probably damaging	Het
Mchr1	A	G	15: 81,235,820	N16S	probably benign	Het
Myadml2	A	T	11: 120,647,727	L94*	probably null	Het
Npr3	C	A	15: 11,848,563	M439I	probably benign	Het
Obscn	A	G	11: 59,003,648	I6677T	unknown	Het
Ogn	A	C	13: 49,621,044	D221A	probably benign	Het
Olfr889	T	C	9: 38,115,934	I46T	probably benign	Het
Pard3b	C	A	1: 62,637,894	Q1195K	probably damaging	Het
Pcsk4	T	C	10: 80,321,951	E608G	probably benign	Het
Pdlim1	T	C	19: 40,223,072	D259G	probably benign	Het
Per1	T	C	11: 69,103,627	S526P	probably damaging	Het
Pfkfb2	A	G	1: 130,706,472	V156A	probably damaging	Het
Ppp4r3a	A	T	12: 101,055,822	D307E	probably damaging	Het
Rims4	T	C	2: 163,879,122	S70G	probably damaging	Het
Rnf213	T	C	11: 119,441,839	F2625L	probably benign	Het
Sap130	T	C	18: 31,666,472	L334P	probably damaging	Het
Slc16a10	T	C	10: 40,076,800	I233V	probably benign	Het
Slc16a7	A	C	10: 125,230,922	F283V	possibly damaging	Het
Slc25a24	T	C	3: 109,136,270	M81T	probably benign	Het
Slc30a9	A	G	5: 67,326,921	R134G	probably damaging	Het
Slc35d3	G	T	10: 19,850,737	L96M	probably damaging	Het
Slc7a11	C	T	3: 50,381,896	G333D	probably damaging	Het
Stam	T	C	2: 14,141,828	S446P	probably benign	Het
Stk38	T	A	17: 28,979,232	N248I	possibly damaging	Het
Tle6	A	C	10: 81,595,385	S221A	probably benign	Het
Tmprss11b	G	A	5: 86,661,631	T334I	probably benign	Het
Tmprss11c	T	A	5: 86,289,260	M1L	possibly damaging	Het
Tpm1	T	C	9: 67,023,429	H262R	probably benign	Het
Tspan33	T	C	6: 29,711,082	S118P	possibly damaging	Het
Tyk2	A	G	9: 21,107,922	V1068A	probably damaging	Het
Ubr2	T	C	17: 46,972,951	I591V	probably benign	Het
Utp20	A	T	10: 88,764,737	Y38*	probably null	Het
Vmn1r217	A	T	13: 23,114,294	I146N	possibly damaging	Het
Zfp608	T	C	18: 54,898,054	Y938C	probably damaging	Het

Other mutations in Dpyd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Dpyd	APN	3	118944242	missense	probably damaging	1.00
IGL00508:Dpyd	APN	3	119064987	missense	probably benign	0.06
IGL02113:Dpyd	APN	3	118999219	missense	probably benign	0.06
IGL02177:Dpyd	APN	3	119064910	missense	possibly damaging	0.76
IGL03001:Dpyd	APN	3	118917242	missense	probably benign	0.07
IGL03106:Dpyd	APN	3	119195134	missense	probably benign	0.03
IGL03399:Dpyd	APN	3	119314777	missense	probably damaging	0.98
F5770:Dpyd	UTSW	3	118897126	nonsense	probably null
F6893:Dpyd	UTSW	3	118804134	critical splice donor site	probably null
R0014:Dpyd	UTSW	3	119141935	missense	probably damaging	1.00
R0081:Dpyd	UTSW	3	118944255	missense	probably benign	0.00
R0267:Dpyd	UTSW	3	118917272	missense	probably benign
R0349:Dpyd	UTSW	3	118917099	nonsense	probably null
R0387:Dpyd	UTSW	3	119427226	missense	probably benign	0.21
R0523:Dpyd	UTSW	3	118899203	missense	probably benign
R0555:Dpyd	UTSW	3	119431542	missense	probably damaging	1.00
R0652:Dpyd	UTSW	3	119427275	missense	probably damaging	1.00
R0741:Dpyd	UTSW	3	118674505	missense	possibly damaging	0.79
R1313:Dpyd	UTSW	3	118899161	splice site	probably benign
R1610:Dpyd	UTSW	3	119065006	missense	probably benign
R1710:Dpyd	UTSW	3	118610443	critical splice acceptor site	probably null
R1861:Dpyd	UTSW	3	118917131	missense	probably damaging	1.00
R2103:Dpyd	UTSW	3	119064952	missense	probably benign	0.02
R2130:Dpyd	UTSW	3	118674568	missense	probably benign
R2131:Dpyd	UTSW	3	118674568	missense	probably benign
R2882:Dpyd	UTSW	3	119065030	missense	probably damaging	0.99
R3771:Dpyd	UTSW	3	119412278	critical splice donor site	probably null
R3978:Dpyd	UTSW	3	118897088	critical splice acceptor site	probably benign
R3978:Dpyd	UTSW	3	118897089	critical splice acceptor site	probably benign
R4030:Dpyd	UTSW	3	118897166	missense	probably benign	0.03
R4065:Dpyd	UTSW	3	118897089	critical splice acceptor site	probably benign
R4066:Dpyd	UTSW	3	118897089	critical splice acceptor site	probably benign
R4234:Dpyd	UTSW	3	119431584	missense	probably damaging	1.00
R4502:Dpyd	UTSW	3	118797537	missense	probably damaging	1.00
R4638:Dpyd	UTSW	3	119266077	missense	probably benign	0.03
R4980:Dpyd	UTSW	3	118917118	missense	probably damaging	0.99
R5262:Dpyd	UTSW	3	118797422	nonsense	probably null
R5348:Dpyd	UTSW	3	118781943	missense	probably benign
R5587:Dpyd	UTSW	3	119064951	missense	probably damaging	1.00
R5611:Dpyd	UTSW	3	119194293	missense	probably benign
R5665:Dpyd	UTSW	3	118917092	missense	probably damaging	1.00
R5716:Dpyd	UTSW	3	118899179	missense	probably damaging	1.00
R5786:Dpyd	UTSW	3	119427237	missense	probably damaging	0.97
R6046:Dpyd	UTSW	3	119431575	missense	probably benign	0.01
R6404:Dpyd	UTSW	3	119265957	missense	probably benign	0.02
R6703:Dpyd	UTSW	3	118897200	splice site	probably null
R7037:Dpyd	UTSW	3	118899289	missense	probably benign	0.00
R7215:Dpyd	UTSW	3	119266032	missense	probably benign	0.11
R7301:Dpyd	UTSW	3	118899284	missense	possibly damaging	0.90
R7336:Dpyd	UTSW	3	119064921	missense	probably damaging	1.00
R7714:Dpyd	UTSW	3	118804131	missense	probably benign	0.01
R8238:Dpyd	UTSW	3	119195193	splice site	probably null
R8306:Dpyd	UTSW	3	119412173	missense	probably benign
R8315:Dpyd	UTSW	3	119314885	missense	probably benign	0.09
R8321:Dpyd	UTSW	3	118781924	missense	possibly damaging	0.84
R8342:Dpyd	UTSW	3	119314803	missense	possibly damaging	0.60
R8735:Dpyd	UTSW	3	119141916	missense	possibly damaging	0.74
R8750:Dpyd	UTSW	3	119141936	missense	probably damaging	1.00
R8874:Dpyd	UTSW	3	118999332	missense	probably damaging	1.00
R8910:Dpyd	UTSW	3	118610518	missense	probably benign	0.17
R8973:Dpyd	UTSW	3	119314933	critical splice donor site	probably null
R9070:Dpyd	UTSW	3	118999243	missense	probably damaging	0.98
R9132:Dpyd	UTSW	3	118917248	missense	probably damaging	1.00
R9198:Dpyd	UTSW	3	118759654	critical splice acceptor site	probably null
R9260:Dpyd	UTSW	3	119314798	missense	possibly damaging	0.95
R9307:Dpyd	UTSW	3	119314911	missense	probably benign
V7581:Dpyd	UTSW	3	118897126	nonsense	probably null
V7582:Dpyd	UTSW	3	118897126	nonsense	probably null
V7583:Dpyd	UTSW	3	118897126	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGACATCGTGACAAACGTCTCACC -3'
(R):5'- TAGAGACTTCTTCCATGCGCCCAG -3'

Sequencing Primer
(F):5'- CCAAGAATCATCCGGGGGAC -3'
(R):5'- TATAACAAAGCCTCACATTGGGAG -3'

Posted On

2014-04-13