Mutagenetix > Incidental Mutation

Incidental Mutation 'R5262:Dpyd'

401483

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

042857-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 118797422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 186 (Y186*)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably null
Transcript: ENSMUST00000039177
AA Change: Y186*

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: Y186*

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: ENSMUST00000126254

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (61/62)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,496,764	D821V	possibly damaging	Het
Ankdd1b	C	A	13: 96,420,773	R384L	probably damaging	Het
Ces1e	A	G	8: 93,223,958	F65S	probably damaging	Het
Cfap53	A	C	18: 74,329,459	S425R	probably benign	Het
Corin	A	G	5: 72,304,955	V837A	probably damaging	Het
Cyp2d34	A	T	15: 82,618,371	V188E	probably damaging	Het
Defb26	A	T	2: 152,507,958	M134K	unknown	Het
Dnah10	A	C	5: 124,785,156	K2158N	probably damaging	Het
Dnah9	C	T	11: 66,112,333	V882M	probably benign	Het
Elovl1	G	A	4: 118,430,927		probably benign	Het
Fars2	T	A	13: 36,342,018	I329N	probably damaging	Het
Gstm1	T	A	3: 108,016,363	M109L	probably benign	Het
Gtf2e1	T	C	16: 37,535,931	T80A	probably damaging	Het
Gtf2h2	A	G	13: 100,481,848		probably benign	Het
Hrh4	G	T	18: 13,015,813	L77F	probably damaging	Het
Ifi47	A	G	11: 49,095,732	T109A	probably benign	Het
Igsf5	G	T	16: 96,391,037	E179*	probably null	Het
Ints8	A	G	4: 11,211,916	I885T	probably damaging	Het
Iqgap1	T	G	7: 80,726,742	I1341L	probably benign	Het
Kmt2b	A	G	7: 30,569,794	L2567P	probably damaging	Het
Lilrb4a	T	C	10: 51,493,207		probably null	Het
Maip1	G	A	1: 57,406,972	R67H	probably damaging	Het
Muc6	T	A	7: 141,651,110	I254F	possibly damaging	Het
Nfkb1	A	T	3: 135,612,412		probably null	Het
Nlrp4a	T	C	7: 26,459,811		probably null	Het
Nrap	A	T	19: 56,320,223	I1477N	possibly damaging	Het
Pdgfa	A	G	5: 138,993,294	S52P	probably benign	Het
Pou1f1	G	T	16: 65,531,982	E196*	probably null	Het
Ppp2r5e	G	A	12: 75,593,271	R19W	probably damaging	Het
Ptn	T	A	6: 36,744,484	Q7L	probably benign	Het
Rbp3	G	T	14: 33,954,850	A252S	probably damaging	Het
Rcor2	G	T	19: 7,274,061	V313L	probably damaging	Het
Rtp3	A	T	9: 110,986,127		probably benign	Het
Ryr2	T	C	13: 11,772,437	T1017A	probably damaging	Het
Scgb2b11	T	C	7: 32,209,351	N108S	probably benign	Het
Sgo2b	C	A	8: 63,943,137	L28F	probably damaging	Het
Shroom3	A	G	5: 92,964,573	E1850G	probably damaging	Het
Slc16a14	A	G	1: 84,912,891	L231P	probably benign	Het
Slfn5	A	G	11: 82,956,670	E127G	possibly damaging	Het
Snx16	C	T	3: 10,437,832	M118I	probably damaging	Het
Snx21	T	C	2: 164,791,821	F176L	probably damaging	Het
Tap2	A	G	17: 34,214,016	N424S	probably benign	Het
Tcf7l1	T	C	6: 72,636,466		probably benign	Het
Trappc8	C	T	18: 20,818,190	V1400I	probably benign	Het
Trim58	T	C	11: 58,651,668	Y485H	possibly damaging	Het
U2af1l4	C	T	7: 30,564,213	T65I	probably benign	Het
Ufl1	G	T	4: 25,251,294		probably benign	Het
Usp8	A	G	2: 126,751,111	N762S	probably damaging	Het
Virma	A	T	4: 11,539,926	D1465V	probably benign	Het
Vmn1r48	A	T	6: 90,036,034	S270T	probably benign	Het
Vrk2	T	A	11: 26,591,697	Y9F	possibly damaging	Het
Wwp1	A	G	4: 19,631,057	F659L	probably damaging	Het
Zbtb24	C	T	10: 41,464,560	Q529*	probably null	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,982,827		probably benign	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
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'- TCAGAGGTTCAGAATAGTCAGTC -3'
(R):5'- CACCAGGGACAGTTTTACCTC -3'

Sequencing Primer
(F):5'- ACAACTCTGTCTTCTTTATGTGGAAC -3'
(R):5'- GGGACAGTTTTACCTCAATATTTTTG -3'

Posted On

2016-07-06