Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Dpyd'

662959

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

068583-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119141916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 663 (D663E)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039177
AA Change: D663E

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: D663E

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	C	T	1: 93,154,486		probably null	Het
6430550D23Rik	A	G	2: 156,003,811	F9S	unknown	Het
Abhd10	A	G	16: 45,737,634	F101L	probably damaging	Het
Acp2	A	G	2: 91,204,306	T93A	probably benign	Het
Adamts9	C	T	6: 92,860,067		probably benign	Het
Aknad1	T	A	3: 108,775,299		probably benign	Het
Ank3	A	T	10: 69,986,955	T485S	probably benign	Het
Caly	G	A	7: 140,072,590	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,858,605	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,281,432	L869*	probably null	Het
Cxxc1	A	G	18: 74,217,260	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,671,094		probably null	Het
Cyp4a30b	G	A	4: 115,452,779	W59*	probably null	Het
Dennd4b	T	C	3: 90,277,865	V1204A	probably damaging	Het
Esrrg	A	T	1: 188,201,008		probably benign	Het
Exoc2	A	C	13: 30,906,839	L261V	probably damaging	Het
Exosc9	T	C	3: 36,555,513	L185S	probably damaging	Het
Gcnt3	T	C	9: 70,034,446	K280R	probably benign	Het
Gm35339	T	C	15: 76,356,575	Y488H		Het
Ighv1-64	A	T	12: 115,507,597	M100K	probably benign	Het
Impdh2	G	A	9: 108,564,779		probably null	Het
Itsn2	T	A	12: 4,671,474	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,694,771	C169R	probably damaging	Het
Kndc1	A	G	7: 139,910,214	S211G	probably benign	Het
Lama2	T	A	10: 27,190,534	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lsg1	T	A	16: 30,581,047		probably null	Het
Msh3	A	G	13: 92,274,866	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,745,088	F464I	probably benign	Het
Mycbp2	T	A	14: 103,223,150	K1493N	probably damaging	Het
Myo15	A	T	11: 60,510,853		probably null	Het
Myo1b	A	T	1: 51,755,737	F1065I	probably benign	Het
Nf1	A	G	11: 79,454,310		probably benign	Het
Nup153	C	A	13: 46,727,551		probably benign	Het
Olfr1291-ps1	T	A	2: 111,500,152	I300K	probably damaging	Het
Olfr1447	A	G	19: 12,900,910	V290A	possibly damaging	Het
Osbpl7	A	G	11: 97,052,368	T149A	probably benign	Het
Parp1	A	G	1: 180,569,125	D31G	probably benign	Het
Pcdha6	T	A	18: 36,968,150	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,356,922	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,454,611	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,063,977	T162S	probably benign	Het
Pi4ka	C	T	16: 17,318,370	R908Q		Het
Pnpla8	A	G	12: 44,283,439	E258G	probably benign	Het
Prrc2c	A	T	1: 162,709,558	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964	I970S	possibly damaging	Het
Robo2	A	T	16: 73,958,359	V758D	probably damaging	Het
Robo4	G	A	9: 37,408,281	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,989,000	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Ryr2	C	A	13: 11,686,947	E2941D	probably damaging	Het
Scd2	G	T	19: 44,301,304	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,372,653	V561I	probably benign	Het
Slc4a4	T	A	5: 89,132,442	D366E	probably damaging	Het
Slfn14	T	G	11: 83,283,889	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,186,944	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,635,546	L309P	possibly damaging	Het
Smyd3	G	T	1: 179,092,917	N217K	probably benign	Het
Spen	T	C	4: 141,469,818	T3547A	probably benign	Het
Suclg1	A	T	6: 73,276,746	I126F	unknown	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tmprss15	A	T	16: 79,001,814	I660N	possibly damaging	Het
Trf	A	T	9: 103,210,524	V677D	probably damaging	Het
Trim36	T	C	18: 46,169,385	N532S	probably benign	Het
Trim37	T	C	11: 87,147,059		probably null	Het
Ttn	T	C	2: 76,740,110	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,383,367	V277D	probably damaging	Het
Wdfy3	T	C	5: 101,930,085	D873G	probably benign	Het
Wdr27	T	C	17: 14,883,667	T726A	probably damaging	Het
Wdtc1	A	T	4: 133,304,200	C236*	probably null	Het
Wnk4	A	C	11: 101,276,266	S1083R	unknown	Het
Wwc1	A	T	11: 35,883,407	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,998,646	L534P	probably damaging	Het
Zfp62	T	C	11: 49,217,400	C773R	probably damaging	Het
Zfp709	T	A	8: 71,889,183	I152N	probably benign	Het
Zfp738	T	C	13: 67,671,431	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,769,698	S645A	probably benign	Het
Zw10	A	G	9: 49,077,561	Y709C	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
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
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
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'- AGAGCAGTTTCTACAGAAGTCGAAG -3'
(R):5'- CGTCTTCAGCCAGTCATCAG -3'

Sequencing Primer
(F):5'- TTCTACAGAAGTCGAAGCTATGTAGG -3'
(R):5'- TCTTCAGCCAGTCATCAGATCCAC -3'

Posted On

2021-03-08