Mutagenetix > Incidental Mutation

Incidental Mutation 'R8315:Dpyd'

641617

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

067720-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8315 (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 T at 119314885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 859 (H859L)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: H859L

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: H859L

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

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
4930402H24Rik	ATCCTCCTCCTCCTCCTCC	ATCCTCCTCCTCCTCC	2: 130,770,735		probably benign	Het
Abca13	A	T	11: 9,378,460	E3511V	probably null	Het
Abca13	A	G	11: 9,585,502	T4709A	probably benign	Het
Aff1	G	T	5: 103,811,090	V342F	probably damaging	Het
Ahnak2	T	A	12: 112,781,133	Q1698L		Het
Ajap1	G	T	4: 153,432,356	T176K	probably damaging	Het
Alkal2	G	T	12: 30,884,851	G23V	probably damaging	Het
Cct3	A	G	3: 88,313,257	T259A	probably benign	Het
Cdk8	C	T	5: 146,268,251	L21F	probably damaging	Het
Csf2rb	G	A	15: 78,347,381	G494D	possibly damaging	Het
Cstf3	G	T	2: 104,590,581		probably benign	Het
Cyp4f39	A	G	17: 32,482,202	D222G	probably benign	Het
Dcp2	T	C	18: 44,396,004	I62T	probably benign	Het
Dpp8	T	C	9: 65,080,851	*893Q	probably null	Het
Dst	T	C	1: 34,284,420		probably null	Het
Egfr	A	G	11: 16,875,027	I456V	probably benign	Het
Elf3	A	G	1: 135,256,576	F185L	probably benign	Het
Emx1	A	G	6: 85,194,106	T164A	possibly damaging	Het
Fam212a	C	A	9: 107,984,307	S270I	probably damaging	Het
Fras1	G	A	5: 96,743,182	V2857M	probably damaging	Het
Gba2	AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA	AAA	4: 43,569,937		probably null	Het
Gda	T	A	19: 21,417,071	T215S	probably benign	Het
Gm14443	C	T	2: 175,171,847		probably null	Het
Gm3448	A	G	17: 14,970,455	Y81H	probably damaging	Het
Gpr152	C	T	19: 4,143,470	P337S	probably damaging	Het
H2-T10	A	G	17: 36,119,013	I296T	probably benign	Het
Hoxd11	G	A	2: 74,683,122	E244K	probably benign	Het
Kazn	C	T	4: 142,141,691	D325N		Het
Lama2	T	C	10: 27,422,659	N147S	probably damaging	Het
Lamc1	A	T	1: 153,243,421	N817K	probably benign	Het
Met	T	C	6: 17,533,957	S636P	probably damaging	Het
Mrgpra3	A	T	7: 47,601,303	M1K	probably null	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Olfr1123	C	A	2: 87,418,651	A201D	probably damaging	Het
Olfr799	G	A	10: 129,647,653	C175Y	probably benign	Het
Olfr891	T	C	9: 38,180,209	T205A	probably benign	Het
Pbx2	A	G	17: 34,592,733	I60M	probably damaging	Het
Pla2g4a	T	C	1: 149,886,214	N164S	probably benign	Het
Poln	A	G	5: 34,109,373	M480T	probably benign	Het
Ppp2r2a	T	C	14: 67,023,728	N181S	probably damaging	Het
Ppp3r2	A	C	4: 49,681,705	F82V	probably damaging	Het
Prox2	A	G	12: 85,095,408	V7A	probably benign	Het
Ptpn3	A	T	4: 57,270,063	I33K	possibly damaging	Het
Rad21l	A	T	2: 151,655,240	M318K	probably benign	Het
Rftn1	A	G	17: 50,002,637	S445P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Rtp4	C	T	16: 23,613,248	P177S	possibly damaging	Het
Saa4	T	A	7: 46,729,628	N96I	possibly damaging	Het
Shb	A	G	4: 45,489,079	Y266H	probably damaging	Het
Slc45a4	T	G	15: 73,589,556	Y88S	probably damaging	Het
Tbccd1	A	G	16: 22,822,814	M312T	probably damaging	Het
Tecta	C	T	9: 42,387,825		probably null	Het
Tex33	T	C	15: 78,378,486	R262G	probably benign	Het
Tle1	A	T	4: 72,126,191	C526*	probably null	Het
Tmem87a	C	T	2: 120,403,960	G34D	probably damaging	Het
Trav13d-1	C	A	14: 52,851,602	Q23K	probably benign	Het
Txndc11	G	T	16: 11,075,601	T755N	possibly damaging	Het
Vmn1r223	A	G	13: 23,250,169	D311G	probably damaging	Het
Vmn2r66	T	A	7: 84,994,724	Y826F	possibly damaging	Het
Wdr90	A	T	17: 25,845,425	M1824K	probably benign	Het
Zfp523	G	A	17: 28,202,588	G440D	possibly 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
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'- CTATCTGAAGAGATTGCTTTTGGTC -3'
(R):5'- ACATAGCTGTAATCAAGCCTGC -3'

Sequencing Primer
(F):5'- AAGAGATTGCTTTTGGTCTGATGTTC -3'
(R):5'- GCCTGCTTCAGAAAGATTCTACTGG -3'

Posted On

2020-07-28