Mutagenetix > Incidental Mutation

Incidental Mutation 'R8306:Dpyd'

641052

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

067792-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8306 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119412173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 888 (K888E)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: K888E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: K888E

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: 99.7%
20x: 99.1%

Validation Efficiency

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
Aarsd1	C	A	11: 101,411,368	V158F	probably damaging	Het
Adam1b	T	C	5: 121,503,149		probably benign	Het
Ambn	G	A	5: 88,459,422	E50K	possibly damaging	Het
Ash1l	A	G	3: 88,965,952	D14G	probably benign	Het
Asphd1	C	T	7: 126,948,612	R173H	probably damaging	Het
Atr	A	T	9: 95,920,370	T1772S		Het
Best3	T	C	10: 117,002,610	L191P	probably damaging	Het
Bola1	A	T	3: 96,197,201	S26T	probably benign	Het
Borcs6	T	C	11: 69,059,820	L8P	probably benign	Het
Brca1	T	G	11: 101,525,637	Q557P	probably damaging	Het
Brca2	G	A	5: 150,536,663	E468K	possibly damaging	Het
Btbd11	T	A	10: 85,598,545	C22*	probably null	Het
Capza2	T	A	6: 17,637,132	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,815,784	Y918*	probably null	Het
Ccdc163	T	C	4: 116,710,275	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,536,590	Q160K	probably damaging	Het
Ccp110	T	A	7: 118,722,680	D519E	probably benign	Het
Cd300ld2	T	C	11: 115,013,822	Q73R	probably benign	Het
Cfap46	T	A	7: 139,656,580	D608V		Het
Cfap69	T	G	5: 5,604,287	Y549S	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clu	A	C	14: 65,979,762	Q348P	probably damaging	Het
Cnot1	A	T	8: 95,747,021	N1153K	probably benign	Het
Col2a1	T	C	15: 97,990,968		probably null	Het
Col6a6	A	T	9: 105,784,073	I279N	probably damaging	Het
Dopey1	A	G	9: 86,520,206	D1153G	possibly damaging	Het
Eif2ak4	T	C	2: 118,457,175	I1208T	possibly damaging	Het
Epha1	T	C	6: 42,358,788	I972V	probably damaging	Het
Fam13c	C	T	10: 70,553,153	T503I	probably benign	Het
Fbxo43	T	A	15: 36,161,867	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,158,632	I57T	probably benign	Het
Flnc	T	C	6: 29,449,370	I1422T	probably benign	Het
Flrt2	T	C	12: 95,779,302	L138P	probably damaging	Het
Frem3	A	G	8: 80,612,211	K378E	possibly damaging	Het
Ganc	T	A	2: 120,422,079	D128E	probably benign	Het
Gm19965	T	C	1: 116,821,785	S399P		Het
H2-Q1	A	T	17: 35,321,021	K89*	probably null	Het
H2-Q2	A	T	17: 35,342,325		probably benign	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Homer2	T	A	7: 81,624,266	S125C	possibly damaging	Het
Hormad2	T	C	11: 4,408,714	K231R	probably benign	Het
Kif17	A	C	4: 138,277,909	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,628,391	S279N	probably benign	Het
Lrp12	T	C	15: 39,878,054	N441D	probably damaging	Het
Lta4h	G	T	10: 93,482,264	L515F	possibly damaging	Het
Mavs	T	C	2: 131,246,550	S425P	probably benign	Het
Mcat	A	C	15: 83,555,391	D99E	probably damaging	Het
Nav2	C	A	7: 49,546,017	T1047K	probably benign	Het
Neb	T	A	2: 52,209,645	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,383,757	R283P	probably null	Het
Notch3	G	A	17: 32,158,112	T273I	probably damaging	Het
Olfr1205	G	A	2: 88,831,289	M57I	possibly damaging	Het
Olfr1415	T	G	1: 92,491,525	I77L	possibly damaging	Het
Olfr152	A	T	2: 87,783,486	*317C	probably null	Het
Olfr5	T	A	7: 6,480,869	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,022,585	T786S	probably benign	Het
Pde9a	A	G	17: 31,473,212	K520E	probably benign	Het
Piezo2	A	C	18: 63,075,730	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,950,496	S1321G	probably benign	Het
Rtkn	T	C	6: 83,151,916	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,265,321	F193S	probably damaging	Het
Samd4	G	A	14: 46,884,917	V33I	probably damaging	Het
Scn5a	A	G	9: 119,521,291	L839P	probably damaging	Het
Slc6a17	C	A	3: 107,473,669	V507L	probably benign	Het
Stradb	C	A	1: 58,991,197	N203K	unknown	Het
Tenm2	T	C	11: 36,069,369	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037	W860G	probably damaging	Het
Tpst2	G	A	5: 112,307,937	R114H	probably damaging	Het
Trappc10	C	T	10: 78,200,626	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,453,967	I265L	probably benign	Het
Zbtb20	A	C	16: 43,618,737	D667A	probably damaging	Het
Zbtb4	T	A	11: 69,777,483	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,304,075	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,122,562	H712L	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
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'- TGCCAGATGGAATCAGACAC -3'
(R):5'- GGGAACAAAACGCCTTTAAGCC -3'

Sequencing Primer
(F):5'- TCAGACACATAGAAGGTTAGTGGTCC -3'
(R):5'- CGCCTTTAAGCCACATTTGAATAGGG -3'

Posted On

2020-07-28