Mutagenetix > Incidental Mutation

Incidental Mutation 'R6046:Dpyd'

483270

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

044214-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6046 (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 119431575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 999 (M999K)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: M999K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: M999K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (78/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	T	C	7: 28,904,619	I406V	probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Ank1	T	A	8: 23,116,098	F1124I	probably damaging	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 65,032,084		probably null	Het
Atp9a	C	A	2: 168,634,870	V1000L	probably benign	Het
Bnip3	A	G	7: 138,909,304		probably benign	Het
Btbd11	T	C	10: 85,388,083	V252A	unknown	Het
Btnl6	T	A	17: 34,508,397	R386S	probably damaging	Het
Calcrl	A	G	2: 84,375,314	V11A	probably benign	Het
Cc2d1a	G	T	8: 84,136,942	A597D	possibly damaging	Het
Celsr3	A	G	9: 108,837,151	T1960A	probably benign	Het
Cfb	T	A	17: 34,862,102		probably null	Het
Chd8	A	G	14: 52,221,071	I860T	possibly damaging	Het
Col28a1	A	G	6: 8,168,102		probably null	Het
Crhr2	T	A	6: 55,091,292	T428S	probably damaging	Het
Crybg2	A	T	4: 134,092,077	I1753F	probably damaging	Het
Ctsq	A	T	13: 61,039,141	V46E	probably benign	Het
Cxcr1	T	C	1: 74,192,281	E194G	probably damaging	Het
Dopey1	A	T	9: 86,515,343	H900L	probably damaging	Het
Gbp3	A	C	3: 142,567,799	D369A	possibly damaging	Het
Glmp	A	G	3: 88,325,188	E36G	probably damaging	Het
Gm10113	T	C	13: 46,177,443		noncoding transcript	Het
Gm6486	T	A	5: 3,070,846		noncoding transcript	Het
Gm973	T	G	1: 59,632,350	L891R	unknown	Het
Heatr3	C	T	8: 88,139,954	T8M	probably damaging	Het
Herc1	A	G	9: 66,445,549	M2106V	probably damaging	Het
Hfm1	A	T	5: 106,898,643		probably null	Het
Hspa14	A	G	2: 3,489,764	V462A	possibly damaging	Het
Hspa5	C	A	2: 34,775,749	T535K	possibly damaging	Het
Ift140	A	G	17: 25,055,589	D745G	probably benign	Het
Ift27	A	T	15: 78,173,781	C8S	possibly damaging	Het
Irak1bp1	G	A	9: 82,846,563	W182*	probably null	Het
Itga3	A	G	11: 95,062,715	I236T	probably benign	Het
Kctd15	T	A	7: 34,650,122	N26Y	possibly damaging	Het
Kdm1b	T	C	13: 47,079,253	V733A	possibly damaging	Het
Lhx8	A	T	3: 154,321,703	L234H	probably damaging	Het
Lrp2	T	A	2: 69,506,754	T1225S	probably damaging	Het
Lrrn1	G	A	6: 107,568,527	D429N	probably benign	Het
Mettl3	A	T	14: 52,298,786	N200K	possibly damaging	Het
Mixl1	G	T	1: 180,696,771	A81D	possibly damaging	Het
Mroh2b	T	C	15: 4,951,281	I1444T	probably benign	Het
Muc15	T	A	2: 110,731,441	L74*	probably null	Het
Olfm2	T	A	9: 20,668,528	Y317F	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,334	S124N	probably benign	Het
Olfr474	T	A	7: 107,954,794	I51N	probably benign	Het
Olfr622	C	T	7: 103,639,679	V154M	probably benign	Het
Pclo	A	T	5: 14,713,288	Y3925F	unknown	Het
Pik3c2g	A	T	6: 139,622,139	R84S	probably damaging	Het
Pik3c2g	A	G	6: 139,896,792	Q449R	probably damaging	Het
Psg28	T	C	7: 18,426,380	E297G	probably damaging	Het
Qrich2	A	T	11: 116,447,006		probably benign	Het
Rgs9	A	G	11: 109,239,560	I363T	probably damaging	Het
Rnpepl1	A	G	1: 92,916,821	D345G	probably damaging	Het
Rtn4	T	A	11: 29,708,023	F726I	probably damaging	Het
Sart3	A	T	5: 113,755,446	I330N	probably damaging	Het
Scn5a	T	C	9: 119,562,374	D84G	probably damaging	Het
Sema4a	T	C	3: 88,440,701	T438A	probably damaging	Het
Sfxn1	A	C	13: 54,088,942	Y73S	probably benign	Het
Slc24a2	A	G	4: 86,996,645	M585T	probably damaging	Het
Slc26a7	A	G	4: 14,505,471	V656A	probably benign	Het
Smok2a	T	G	17: 13,226,134	D199E	probably benign	Het
Tbc1d10c	T	C	19: 4,185,031	I344V	probably benign	Het
Tll1	A	T	8: 64,053,891	Y605*	probably null	Het
Trim75	G	A	8: 64,982,883	P305L	probably damaging	Het
Unc13c	T	C	9: 73,930,884	N895S	probably benign	Het
Vmn2r25	A	T	6: 123,822,917	I822N	probably damaging	Het
Wasf3	T	G	5: 146,470,356	D495E	unknown	Het
Wdhd1	T	A	14: 47,273,210	K119*	probably null	Het
Wnt2b	T	A	3: 104,951,023	D310V	probably damaging	Het
Zfat	G	T	15: 68,180,777	D389E	probably damaging	Het
Zfp282	G	A	6: 47,880,168	V112M	probably damaging	Het
Zfp617	A	T	8: 71,933,413	K529I	probably damaging	Het
Zfp866	A	T	8: 69,765,723	C416S	probably damaging	Het
Zfp991	G	A	4: 147,179,765	G533D	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
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
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'- CTGTCATTGCATCCGTGTGG -3'
(R):5'- CACTGGCATTAGACATTGTTTTCC -3'

Sequencing Primer
(F):5'- ATTTGGTACTCTCCATGACTGG -3'
(R):5'- TGGAAAGAACTGATCATAATGA -3'

Posted On

2017-07-14