Mutagenetix > Incidental Mutations

Incidental Mutation 'R6703:Dpyd'

528267

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 118897200 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129148

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
1700080E11Rik	T	C	9: 105,144,559	Y96C	possibly damaging	Het
Akap13	T	C	7: 75,602,898	S259P	probably damaging	Het
Aoc1	A	C	6: 48,905,714	T197P	probably damaging	Het
Blnk	A	T	19: 40,962,506		probably null	Het
Ccser1	A	T	6: 61,638,511	K94*	probably null	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Clec4n	A	G	6: 123,235,594	Q89R	probably null	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Col6a3	C	T	1: 90,792,462	R1552Q	probably benign	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Dock7	T	C	4: 98,946,672	E1822G	probably damaging	Het
Dyrk4	A	T	6: 126,890,082	I329N	probably damaging	Het
E4f1	C	A	17: 24,447,131	R231L	probably damaging	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Fkbp7	A	T	2: 76,671,762	M99K	probably damaging	Het
Flad1	T	C	3: 89,408,590	S222G	probably benign	Het
H1fnt	C	A	15: 98,257,272		probably benign	Het
Ighg2b	T	C	12: 113,305,033		probably benign	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Itln1	C	T	1: 171,530,583	C199Y	probably damaging	Het
Kctd3	G	A	1: 188,996,529	R137C	probably damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Larp7	C	T	3: 127,544,224	M395I	probably damaging	Het
Lpcat3	C	T	6: 124,663,222	A5V	probably benign	Het
Lrrc43	C	T	5: 123,499,469	T233M	possibly damaging	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Mgst2	T	C	3: 51,664,612		probably null	Het
Mug2	T	G	6: 122,078,694	I1112R	probably benign	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nectin3	A	G	16: 46,463,842	S160P	probably damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr165	T	C	16: 19,407,372	I215V	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdh10	G	A	3: 45,381,299	V683M	possibly damaging	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pif1	T	C	9: 65,593,263	V490A	probably damaging	Het
Plekhn1	A	T	4: 156,224,793	Y219N	probably benign	Het
Ppl	T	G	16: 5,089,464	E989A	probably damaging	Het
Prkdc	T	G	16: 15,670,528	S505A	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Ptges	A	G	2: 30,903,121	V33A	possibly damaging	Het
Qser1	G	A	2: 104,777,325	T1416I	possibly damaging	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rtn3	A	T	19: 7,435,045	V788D	probably damaging	Het
Rtn4r	T	C	16: 18,151,191	L161P	probably damaging	Het
Rtn4rl1	G	A	11: 75,265,528	R262Q	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Senp6	A	G	9: 80,121,921	E522G	probably damaging	Het
Slc27a6	A	G	18: 58,609,839	N533S	probably benign	Het
Slc39a5	T	A	10: 128,397,782	D282V	probably damaging	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Snx14	A	G	9: 88,422,914	I109T	probably damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
Sox5	G	T	6: 143,833,465	S648R	probably damaging	Het
Sptbn2	G	A	19: 4,749,814	S2161N	probably benign	Het
Sptbn2	C	A	19: 4,749,815	S2161R	probably benign	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Tmub1	T	C	5: 24,446,946	S7G	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Tusc5	A	T	11: 76,694,162		probably null	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Zfp438	A	G	18: 5,214,044	S305P	probably benign	Het
Zfp780b	T	C	7: 27,971,641	T81A	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
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
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'- ATCACAGTACTTTGAAGATTGTCAC -3'
(R):5'- AATGCCTTTCATGATGCATTCTTG -3'

Sequencing Primer
(F):5'- TAGGCTTGCCAGAACCC -3'
(R):5'- TCATGATGCATTCTTGGAATAATAGG -3'

Posted On

2018-07-24