Mutagenetix > Incidental Mutations

Incidental Mutation 'R7037:Dpyd'

546755

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 #

R7037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118899289 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 361 (I361F)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: I361F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: I361F

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,768,043	N33I	probably damaging	Het
Ahnak2	A	T	12: 112,774,278	V314D	probably damaging	Het
Arl14epl	T	G	18: 46,932,443	C92G	probably benign	Het
Atp6v1h	T	A	1: 5,149,992	M423K	possibly damaging	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Baz2b	C	T	2: 59,933,670		probably null	Het
Bicral	T	C	17: 46,824,634	H550R	probably benign	Het
C1rl	A	G	6: 124,508,639	Y323C	probably damaging	Het
Ccr9	T	A	9: 123,779,971	H239Q	possibly damaging	Het
Cdh16	T	A	8: 104,617,635	R91*	probably null	Het
Coro1c	A	G	5: 113,845,396	F357S	possibly damaging	Het
Cpsf4	G	A	5: 145,176,129	R141Q	possibly damaging	Het
Cryzl2	G	A	1: 157,470,748	V236I	probably damaging	Het
Cttnbp2	T	C	6: 18,435,118	E247G	probably damaging	Het
Dbr1	T	A	9: 99,576,568		probably null	Het
Dclk1	T	C	3: 55,463,048	S23P	probably damaging	Het
Diexf	A	C	1: 193,120,723		probably null	Het
Elac2	A	G	11: 64,983,711	E218G	probably benign	Het
Eml4	T	A	17: 83,425,327	D136E	probably benign	Het
Fam198a	G	T	9: 121,965,526	V249L	possibly damaging	Het
Fam71e2	G	T	7: 4,758,585		probably benign	Het
Foxred1	A	T	9: 35,207,548	S223T	probably benign	Het
Gm11595	A	G	11: 99,772,648	C69R	unknown	Het
Gm14124	G	T	2: 150,266,456	V46F	possibly damaging	Het
Gna14	A	T	19: 16,533,764	H59L		Het
H2-Ab1	T	A	17: 34,267,989	I239N	probably damaging	Het
Ints7	T	C	1: 191,619,605	S809P	probably benign	Het
Itgb4	T	A	11: 116,005,565	Y1379*	probably null	Het
Kank1	A	G	19: 25,430,341	D1233G	probably damaging	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lrrc66	A	T	5: 73,607,161	D846E	probably benign	Het
Lyst	A	G	13: 13,616,666	H38R	probably damaging	Het
Mc3r	T	C	2: 172,249,634	F259L	probably damaging	Het
Med25	A	G	7: 44,882,782	Y384H	probably damaging	Het
Met	A	T	6: 17,547,128		probably benign	Het
Mmp16	T	C	4: 18,116,148	V584A	possibly damaging	Het
Mpp5	T	A	12: 78,797,199	I59N	probably damaging	Het
Mrgprb3	A	G	7: 48,643,194	L203P	probably damaging	Het
Mus81	A	G	19: 5,486,080	L185P	probably damaging	Het
Naaa	A	G	5: 92,277,075	V75A	possibly damaging	Het
Obscn	T	A	11: 59,043,929	T5292S	probably damaging	Het
Obscn	T	C	11: 59,052,604	S4801G	probably damaging	Het
Olfr703	T	C	7: 106,845,336	S242P	probably damaging	Het
Otof	T	C	5: 30,381,538	D1112G	probably benign	Het
Pbx4	A	G	8: 69,864,875	R170G	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Plce1	A	T	19: 38,702,017	D715V	probably damaging	Het
Pms1	T	C	1: 53,207,611	T311A	possibly damaging	Het
Popdc2	A	G	16: 38,374,267	D350G	probably damaging	Het
Prex1	A	G	2: 166,587,180	V661A	probably benign	Het
Ptbp2	A	G	3: 119,751,908	Y130H	probably damaging	Het
Rev3l	C	T	10: 39,851,975	R2707W	probably damaging	Het
Rpl37	G	A	15: 5,117,703	R75K	probably null	Het
Ryr3	T	A	2: 112,949,130	R259*	probably null	Het
Scai	A	T	2: 39,190,621	S8T	probably benign	Het
Scn4a	C	A	11: 106,320,900	L1430F	probably damaging	Het
Sema5a	A	G	15: 32,686,847	K1035R	probably damaging	Het
Siah3	A	G	14: 75,525,585	H92R	probably benign	Het
Smc4	G	A	3: 69,018,195	V342I	possibly damaging	Het
Spata31d1a	C	T	13: 59,700,324	C1330Y	possibly damaging	Het
St18	C	A	1: 6,803,036	H332N	possibly damaging	Het
Sycp1	T	A	3: 102,898,934	E480D	possibly damaging	Het
Tex14	A	T	11: 87,497,915	I323F	probably damaging	Het
Tm7sf2	A	T	19: 6,064,077		probably null	Het
Tmem241	G	T	18: 12,113,406	H62Q	probably benign	Het
Tmem54	T	A	4: 129,110,801		probably null	Het
Tomm34	A	G	2: 164,070,478	L39P	probably damaging	Het
Triml2	T	A	8: 43,193,536	V354D	probably damaging	Het
Usp19	T	C	9: 108,496,958	I738T	possibly damaging	Het
Utrn	T	A	10: 12,826,770		probably null	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
R6703:Dpyd	UTSW	3	118897200	splice site	probably null
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
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'- GCAAGATGCAATTTTACAGTGC -3'
(R):5'- AGTTCCTTTTAAGTGGACTGTCAG -3'

Sequencing Primer
(F):5'- CAAGTATCTTTTGAGCTGTCATGC -3'
(R):5'- ATCAACAGTGTCATTGCC -3'

Posted On

2019-05-13