Mutagenetix > Incidental Mutations

Incidental Mutation 'R0081:Dpyd'

215981

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

038368-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0081 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118944255 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 482 (V482I)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: V482I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: V482I

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

Meta Mutation Damage Score

0.2043

Coding Region Coverage

1x: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 24,781,687	D485G	probably damaging	Het
Adamts19	T	C	18: 58,903,065		probably null	Het
Adgrd1	A	T	5: 129,178,082	I598F	probably damaging	Het
Adh5	A	G	3: 138,451,413	D245G	probably benign	Het
Adra2b	T	C	2: 127,364,292	V238A	probably benign	Het
Ank1	G	A	8: 23,116,242	V1188I	possibly damaging	Het
Asap1	C	T	15: 64,099,564	G905D	probably damaging	Het
AW554918	T	C	18: 25,344,902	V428A	probably benign	Het
Birc6	T	A	17: 74,643,441	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280		probably benign	Het
Cyfip2	A	T	11: 46,253,998	Y676*	probably null	Het
Dcaf17	T	A	2: 71,078,468		probably benign	Het
Dclre1a	A	G	19: 56,542,707	F736L	probably damaging	Het
Ddx41	A	T	13: 55,535,380	H171Q	possibly damaging	Het
Dennd5b	G	T	6: 148,993,759	Q1258K	probably benign	Het
Dock10	T	C	1: 80,606,578	D137G	probably damaging	Het
Erich6	A	T	3: 58,636,126		probably benign	Het
Fam193b	A	G	13: 55,554,211		probably benign	Het
Foxp2	T	C	6: 15,405,644		probably benign	Het
Frmd4a	T	C	2: 4,572,441		probably null	Het
Gas2l2	A	G	11: 83,422,867	S540P	possibly damaging	Het
Glis2	T	C	16: 4,613,653	V348A	probably benign	Het
Gm14443	C	A	2: 175,169,936	G239V	probably damaging	Het
Gpr158	T	C	2: 21,826,717	V876A	probably damaging	Het
H1foo	A	G	6: 115,949,981	E273G	probably benign	Het
Hadh	C	T	3: 131,235,636	D245N	probably damaging	Het
Hk2	A	T	6: 82,734,976		probably benign	Het
Ice1	A	T	13: 70,619,044	Y108*	probably null	Het
Il10ra	T	G	9: 45,255,949	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,631,147		probably null	Het
Kank4	G	T	4: 98,778,330	P627T	probably benign	Het
Kif16b	A	G	2: 142,707,426		probably benign	Het
Lipn	A	G	19: 34,076,976	I205V	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Myh1	T	C	11: 67,215,857	M1255T	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myo1d	T	G	11: 80,557,523	K925N	probably benign	Het
Myoz1	T	A	14: 20,649,554	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nf1	C	A	11: 79,453,979		probably benign	Het
Npepl1	C	T	2: 174,116,086	P239S	probably damaging	Het
Olfml1	A	G	7: 107,571,299	K131R	probably benign	Het
Olfr1258	T	A	2: 89,930,079	I90K	possibly damaging	Het
Olfr1303	A	C	2: 111,813,868	I286S	probably damaging	Het
Olfr344	T	A	2: 36,568,881	Y94*	probably null	Het
Olfr352	T	C	2: 36,870,010	L148S	possibly damaging	Het
Olfr358	G	A	2: 37,005,450	L55F	probably damaging	Het
Olfr389	A	G	11: 73,777,109	F73L	possibly damaging	Het
Olfr472	C	T	7: 107,903,005	T96I	probably benign	Het
Olfr771	C	T	10: 129,160,838	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,241,533		probably benign	Het
Pik3c2g	T	C	6: 139,957,793	C591R	probably benign	Het
Pkn2	T	G	3: 142,853,582	K61Q	probably damaging	Het
Ppfia1	C	A	7: 144,504,974	G722C	probably damaging	Het
Ppp1cb	T	C	5: 32,487,614	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,907,135	N440K	possibly damaging	Het
Rbm34	T	A	8: 126,949,484	K340N	probably damaging	Het
Samd3	T	C	10: 26,271,501		probably benign	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sigirr	T	C	7: 141,091,372	D399G	probably damaging	Het
Slc17a7	A	G	7: 45,174,947	E554G	probably benign	Het
Smc3	A	G	19: 53,601,562		probably benign	Het
Tdrd1	T	C	19: 56,831,271	Y68H	probably benign	Het
Tespa1	T	A	10: 130,360,850	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Ttc38	A	G	15: 85,856,472	S436G	probably benign	Het
Ttn	T	A	2: 76,751,079	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,751,836	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,923,027	D532V	probably benign	Het
Vwa8	C	A	14: 79,082,782	L1078I	probably benign	Het
Vwce	A	T	19: 10,664,089		probably null	Het
Zpr1	A	G	9: 46,279,697	D300G	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
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
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
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'- GGTAACAGCTTCCTGGATGAGCAC -3'
(R):5'- TGTGGACTCACATAGGCACATGAAC -3'

Sequencing Primer
(F):5'- GTGAACTAGATACTTGATACTGCCC -3'
(R):5'- TAGGCACATGAACCAGCTTAGATTC -3'

Posted On

2014-07-16