Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Dpyd'

311110

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

040941-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3978 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

AAT to AATGTATATATAT at 118897089 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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129148

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 138,183,674	T61A	probably benign	Het
Adam28	A	G	14: 68,610,994	V671A	probably benign	Het
Ankhd1	A	T	18: 36,647,613	H1906L	probably damaging	Het
Ano5	G	A	7: 51,587,806	V743I	probably benign	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
Arid2	A	G	15: 96,363,622	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,996,933		probably null	Het
Azin1	A	T	15: 38,498,713	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,962,412	T1662A	probably benign	Het
Cog8	T	A	8: 107,053,037	I203F	probably damaging	Het
Col6a6	T	C	9: 105,698,879	H2094R	probably damaging	Het
Cybb	T	C	X: 9,444,588	Y425C	probably damaging	Het
Dab2	A	G	15: 6,435,163		probably null	Het
Eif3i	T	C	4: 129,592,336	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,225,035	M402L	probably benign	Het
Fga	A	T	3: 83,030,183		probably null	Het
Foxp2	A	G	6: 15,197,208		probably benign	Het
Gbp2	C	T	3: 142,629,986	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,943,568	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,517,850	T136I	probably benign	Het
Gprc5b	C	T	7: 118,984,131	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
Hdlbp	T	C	1: 93,421,351	I535V	probably damaging	Het
Helb	A	G	10: 120,089,625	V949A	probably benign	Het
Hoxc13	T	C	15: 102,921,240	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Il27ra	G	A	8: 84,040,684	T170I	probably benign	Het
Insm2	T	C	12: 55,600,838	Y456H	probably benign	Het
Katna1	T	C	10: 7,752,754	M249T	probably damaging	Het
Lin9	T	A	1: 180,668,792	I298N	possibly damaging	Het
Lyst	G	A	13: 13,634,168	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,377,931	D685E	probably damaging	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Olfr485	A	G	7: 108,159,612	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,073,685	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,192,254	I13T	probably benign	Het
Psmd1	T	C	1: 86,128,187	M757T	probably benign	Het
Rdh19	A	T	10: 127,850,075	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,615,111	T296A	possibly damaging	Het
Rgl2	G	A	17: 33,935,162	R472H	probably benign	Het
Rhcg	T	C	7: 79,617,399	E43G	probably benign	Het
Rif1	T	A	2: 52,116,747		probably null	Het
Rorb	A	G	19: 18,937,890	V468A	probably benign	Het
Rxrb	C	T	17: 34,036,326	P209L	possibly damaging	Het
Sbf2	G	T	7: 110,329,885	T1438K	probably benign	Het
Setd3	A	T	12: 108,157,942	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,489,827	D110N	probably benign	Het
Slc26a3	T	A	12: 31,465,860		probably null	Het
Slc5a5	A	G	8: 70,889,395	V305A	probably benign	Het
Slc6a6	A	T	6: 91,755,052	M621L	probably benign	Het
Smgc	A	T	15: 91,860,348	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,035,160	D172G	possibly damaging	Het
Syt15	T	A	14: 34,223,104	C203S	probably benign	Het
Tdrd1	A	G	19: 56,866,634	R1171G	probably benign	Het
Trp63	A	G	16: 25,820,740		probably benign	Het
Tspan9	A	G	6: 127,967,247	V30A	probably damaging	Het
Ubp1	A	T	9: 113,956,705		probably null	Het
Vmn2r68	T	A	7: 85,232,462	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,653,957		probably null	Het
Wee1	G	T	7: 110,124,555	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,284	G36D	probably damaging	Het
Zmym6	T	C	4: 127,123,555	I951T	possibly 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
R1554:Dpyd	UTSW	3	119065046	splice site	probably null
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
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'- GAGATCTGTTAGATTGTTCAGAGC -3'
(R):5'- CCAGATAAGCTATGAATGATGTCTTAC -3'

Sequencing Primer
(F):5'- CAGCTTGAATCTGTGGAAGCC -3'
(R):5'- CTGCTTTTGGCGACAAGT -3'

Posted On

2015-04-29