Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Dpyd'

177970

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

F5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 118897126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 295 (Q295*)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably null
Transcript: ENSMUST00000039177
AA Change: Q295*

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: Q295*

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

0.9710

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,886,179	M950L	probably benign	Het
AC139131.1	T	G	7: 12,481,196		probably benign	Het
Ahcy	G	A	2: 155,064,921	R151*	probably null	Het
Arhgef38	T	G	3: 133,149,540	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Camk2g	T	C	14: 20,739,312		probably benign	Het
Casp8ap2	C	T	4: 32,639,944	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 17,820,528		probably null	Het
Cdc42bpb	C	T	12: 111,296,391	G1501S	probably benign	Het
Cfi	T	A	3: 129,854,992	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,581,348	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dcaf4	C	A	12: 83,537,701		probably null	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,379,426	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Gdap1l1	C	T	2: 163,447,486		probably benign	Het
Glrx3	A	G	7: 137,459,153	H172R	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm20517	G	A	17: 47,618,832	V65M	probably damaging	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Golga4	A	G	9: 118,556,075	E727G	possibly damaging	Het
Got1	T	A	19: 43,500,561		probably benign	Het
Heatr5a	A	G	12: 51,881,278		probably benign	Het
Hira	G	A	16: 18,894,821	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Ing1	T	C	8: 11,561,934	V124A	probably damaging	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,455,512	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,316,410	D1713G	probably damaging	Het
Mctp2	T	A	7: 72,121,751		probably benign	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Myrfl	T	C	10: 116,861,530	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,637,937	V670A	possibly damaging	Het
Nphp3	T	C	9: 104,035,894		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr1440	G	A	19: 12,394,550	V96I	probably benign	Het
Olfr480	G	T	7: 108,066,678	T40K	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,528,476	W274C	probably damaging	Het
Rabep1	T	C	11: 70,937,516		probably benign	Het
Ralgapa1	G	A	12: 55,795,653		probably benign	Het
Rasa1	A	G	13: 85,226,945		probably null	Het
Rbbp8nl	T	A	2: 180,278,208	T558S	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,622,549		probably benign	Het
Sirpb1b	A	G	3: 15,503,183	V366A	probably benign	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Slc5a6	C	T	5: 31,042,613		probably null	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Sptbn2	C	T	19: 4,750,632	R2292C	probably damaging	Het
Thbd	A	T	2: 148,407,190	Y253N	probably benign	Het
Tiam1	C	T	16: 89,865,271	R653H	probably damaging	Het
Tmc3	T	C	7: 83,622,505	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Ttc23	T	C	7: 67,709,315		probably benign	Het
Ttc36	A	T	9: 44,801,797		probably benign	Het
Tubb3	C	T	8: 123,411,675		probably benign	Het
Vmn2r68	C	T	7: 85,221,880	V732I	probably benign	Het
Vps18	A	G	2: 119,297,228	Y844C	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Wdr72	T	A	9: 74,157,270	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Dpyd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Dpyd	APN	3	118,944,242 (GRCm38)	missense	probably damaging	1.00
IGL00508:Dpyd	APN	3	119,064,987 (GRCm38)	missense	probably benign	0.06
IGL02113:Dpyd	APN	3	118,999,219 (GRCm38)	missense	probably benign	0.06
IGL02177:Dpyd	APN	3	119,064,910 (GRCm38)	missense	possibly damaging	0.76
IGL03001:Dpyd	APN	3	118,917,242 (GRCm38)	missense	probably benign	0.07
IGL03106:Dpyd	APN	3	119,195,134 (GRCm38)	missense	probably benign	0.03
IGL03399:Dpyd	APN	3	119,314,777 (GRCm38)	missense	probably damaging	0.98
F6893:Dpyd	UTSW	3	118,804,134 (GRCm38)	critical splice donor site	probably null
R0014:Dpyd	UTSW	3	119,141,935 (GRCm38)	missense	probably damaging	1.00
R0081:Dpyd	UTSW	3	118,944,255 (GRCm38)	missense	probably benign	0.00
R0267:Dpyd	UTSW	3	118,917,272 (GRCm38)	missense	probably benign
R0349:Dpyd	UTSW	3	118,917,099 (GRCm38)	nonsense	probably null
R0387:Dpyd	UTSW	3	119,427,226 (GRCm38)	missense	probably benign	0.21
R0523:Dpyd	UTSW	3	118,899,203 (GRCm38)	missense	probably benign
R0555:Dpyd	UTSW	3	119,431,542 (GRCm38)	missense	probably damaging	1.00
R0652:Dpyd	UTSW	3	119,427,275 (GRCm38)	missense	probably damaging	1.00
R0741:Dpyd	UTSW	3	118,674,505 (GRCm38)	missense	possibly damaging	0.79
R1313:Dpyd	UTSW	3	118,899,161 (GRCm38)	splice site	probably benign
R1554:Dpyd	UTSW	3	119,065,046 (GRCm38)	splice site	probably null
R1610:Dpyd	UTSW	3	119,065,006 (GRCm38)	missense	probably benign
R1710:Dpyd	UTSW	3	118,610,443 (GRCm38)	critical splice acceptor site	probably null
R1861:Dpyd	UTSW	3	118,917,131 (GRCm38)	missense	probably damaging	1.00
R2103:Dpyd	UTSW	3	119,064,952 (GRCm38)	missense	probably benign	0.02
R2130:Dpyd	UTSW	3	118,674,568 (GRCm38)	missense	probably benign
R2131:Dpyd	UTSW	3	118,674,568 (GRCm38)	missense	probably benign
R2882:Dpyd	UTSW	3	119,065,030 (GRCm38)	missense	probably damaging	0.99
R3771:Dpyd	UTSW	3	119,412,278 (GRCm38)	critical splice donor site	probably null
R3978:Dpyd	UTSW	3	118,897,089 (GRCm38)	critical splice acceptor site	probably benign
R3978:Dpyd	UTSW	3	118,897,088 (GRCm38)	critical splice acceptor site	probably benign
R4030:Dpyd	UTSW	3	118,897,166 (GRCm38)	missense	probably benign	0.03
R4065:Dpyd	UTSW	3	118,897,089 (GRCm38)	critical splice acceptor site	probably benign
R4066:Dpyd	UTSW	3	118,897,089 (GRCm38)	critical splice acceptor site	probably benign
R4234:Dpyd	UTSW	3	119,431,584 (GRCm38)	missense	probably damaging	1.00
R4502:Dpyd	UTSW	3	118,797,537 (GRCm38)	missense	probably damaging	1.00
R4638:Dpyd	UTSW	3	119,266,077 (GRCm38)	missense	probably benign	0.03
R4980:Dpyd	UTSW	3	118,917,118 (GRCm38)	missense	probably damaging	0.99
R5262:Dpyd	UTSW	3	118,797,422 (GRCm38)	nonsense	probably null
R5348:Dpyd	UTSW	3	118,781,943 (GRCm38)	missense	probably benign
R5587:Dpyd	UTSW	3	119,064,951 (GRCm38)	missense	probably damaging	1.00
R5611:Dpyd	UTSW	3	119,194,293 (GRCm38)	missense	probably benign
R5665:Dpyd	UTSW	3	118,917,092 (GRCm38)	missense	probably damaging	1.00
R5716:Dpyd	UTSW	3	118,899,179 (GRCm38)	missense	probably damaging	1.00
R5786:Dpyd	UTSW	3	119,427,237 (GRCm38)	missense	probably damaging	0.97
R6046:Dpyd	UTSW	3	119,431,575 (GRCm38)	missense	probably benign	0.01
R6404:Dpyd	UTSW	3	119,265,957 (GRCm38)	missense	probably benign	0.02
R6703:Dpyd	UTSW	3	118,897,200 (GRCm38)	splice site	probably null
R7037:Dpyd	UTSW	3	118,899,289 (GRCm38)	missense	probably benign	0.00
R7215:Dpyd	UTSW	3	119,266,032 (GRCm38)	missense	probably benign	0.11
R7301:Dpyd	UTSW	3	118,899,284 (GRCm38)	missense	possibly damaging	0.90
R7336:Dpyd	UTSW	3	119,064,921 (GRCm38)	missense	probably damaging	1.00
R7714:Dpyd	UTSW	3	118,804,131 (GRCm38)	missense	probably benign	0.01
R8238:Dpyd	UTSW	3	119,195,193 (GRCm38)	splice site	probably null
R8306:Dpyd	UTSW	3	119,412,173 (GRCm38)	missense	probably benign
R8315:Dpyd	UTSW	3	119,314,885 (GRCm38)	missense	probably benign	0.09
R8321:Dpyd	UTSW	3	118,781,924 (GRCm38)	missense	possibly damaging	0.84
R8342:Dpyd	UTSW	3	119,314,803 (GRCm38)	missense	possibly damaging	0.60
R8735:Dpyd	UTSW	3	119,141,916 (GRCm38)	missense	possibly damaging	0.74
R8750:Dpyd	UTSW	3	119,141,936 (GRCm38)	missense	probably damaging	1.00
R8874:Dpyd	UTSW	3	118,999,332 (GRCm38)	missense	probably damaging	1.00
R8910:Dpyd	UTSW	3	118,610,518 (GRCm38)	missense	probably benign	0.17
R8973:Dpyd	UTSW	3	119,314,933 (GRCm38)	critical splice donor site	probably null
R9070:Dpyd	UTSW	3	118,999,243 (GRCm38)	missense	probably damaging	0.98
R9132:Dpyd	UTSW	3	118,917,248 (GRCm38)	missense	probably damaging	1.00
R9198:Dpyd	UTSW	3	118,759,654 (GRCm38)	critical splice acceptor site	probably null
R9260:Dpyd	UTSW	3	119,314,798 (GRCm38)	missense	possibly damaging	0.95
R9307:Dpyd	UTSW	3	119,314,911 (GRCm38)	missense	probably benign
V7581:Dpyd	UTSW	3	118,897,126 (GRCm38)	nonsense	probably null
V7582:Dpyd	UTSW	3	118,897,126 (GRCm38)	nonsense	probably null
V7583:Dpyd	UTSW	3	118,897,126 (GRCm38)	nonsense	probably null

Predicted Primers

Posted On

2014-05-07