Mutagenetix > Incidental Mutations

Incidental Mutation 'R8321:Dpyd'

641943

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118781924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039177
AA Change: V137A

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: V137A

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: 99.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230113P08Rik	G	T	9: 35,909,453	C111F	probably damaging	Het
Arhgap44	A	G	11: 65,008,227	V708A	probably benign	Het
Atg9a	G	A	1: 75,185,698	Q523*	probably null	Het
Bank1	T	A	3: 136,234,634	E329V	possibly damaging	Het
Cdh11	T	C	8: 102,634,784	R641G	probably damaging	Het
Cfap58	A	G	19: 47,958,147	E373G	probably damaging	Het
Chd8	T	C	14: 52,232,567	T529A	probably benign	Het
Chtf18	G	A	17: 25,720,891	T747I	probably benign	Het
Cyp2j6	A	G	4: 96,553,447	L2P	probably benign	Het
Cyp4f18	G	A	8: 71,988,583	P518S	possibly damaging	Het
Dmrtc1a	G	A	X: 102,908,615	R8W	probably benign	Het
Epha6	A	G	16: 59,915,954	V739A	probably damaging	Het
Ern2	C	T	7: 122,173,208	A676T	probably damaging	Het
Fam20c	A	T	5: 138,757,931	I241F	possibly damaging	Het
Fastkd2	A	G	1: 63,747,979	H524R	probably benign	Het
Foxq1	T	C	13: 31,559,268	Y118H	probably damaging	Het
Gfm1	C	T	3: 67,430,261	A8V	probably benign	Het
Gfm2	C	T	13: 97,162,992	T407M	possibly damaging	Het
Gldc	G	A	19: 30,143,407	Q375*	probably null	Het
Gm29096	C	A	10: 41,634,033	A859S	probably damaging	Het
Gm5114	A	G	7: 39,410,849	I192T	possibly damaging	Het
Gnb1	A	T	4: 155,555,025	N237I	possibly damaging	Het
Herc2	C	T	7: 56,229,348	P4662S	possibly damaging	Het
Herc3	C	T	6: 58,843,769	S46F	possibly damaging	Het
Hgsnat	C	T	8: 25,971,151	G153E	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Igkv2-137	GA	GAA	6: 67,556,170		probably null	Het
Invs	T	A	4: 48,283,267	D6E	probably benign	Het
Jakmip3	T	C	7: 139,026,884	V463A	probably benign	Het
Jarid2	T	A	13: 44,848,386	S96R	probably damaging	Het
Krtap6-1	A	C	16: 89,031,736	N7H	unknown	Het
Matn4	A	T	2: 164,393,287	V455D	probably damaging	Het
Nbea	G	A	3: 56,183,097	P47S	possibly damaging	Het
Oit3	T	C	10: 59,428,160	H384R	probably benign	Het
Olfr387-ps1	G	A	11: 73,665,536	R309H	unknown	Het
Olfr901	A	T	9: 38,430,554	I91F	probably damaging	Het
Pabpc4l	T	A	3: 46,446,294	D305V	probably damaging	Het
Papln	G	A	12: 83,774,941	W314*	probably null	Het
Pask	G	A	1: 93,320,655	R975C	possibly damaging	Het
Plce1	A	G	19: 38,651,936	N542S	probably benign	Het
Rasal1	C	T	5: 120,666,355	R431C	probably benign	Het
Rnf17	TG	T	14: 56,424,542	132	probably null	Het
Sez6l2	C	A	7: 126,958,416	T334N	probably damaging	Het
Sh3d19	A	G	3: 86,093,764	T256A	probably damaging	Het
Slit2	A	T	5: 48,230,267	N545Y	probably damaging	Het
Sprtn	A	T	8: 124,903,255	D429V	possibly damaging	Het
Srcap	T	C	7: 127,540,896	V1389A	probably damaging	Het
Tecta	C	A	9: 42,373,053	C912F	probably damaging	Het
Tns1	T	A	1: 73,985,780		probably null	Het
Tprgl	A	G	4: 154,160,403	V76A	probably benign	Het
Trav12-2	G	T	14: 53,616,383		probably benign	Het
Trio	T	C	15: 27,881,326	D612G	possibly damaging	Het
Usp6nl	A	T	2: 6,391,089	Q36H	possibly damaging	Het
Vps9d1	A	T	8: 123,248,805	M167K	possibly damaging	Het
Zfhx4	T	A	3: 5,401,127	L2140Q	probably damaging	Het
Zfp512b	A	G	2: 181,587,138	V678A	possibly damaging	Het
Zfp800	A	G	6: 28,242,993	S658P	probably damaging	Het
Zscan22	A	G	7: 12,903,698	S6G	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
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
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'- GTGAACACCAGTGCAGCATG -3'
(R):5'- CACTGAAACACATACAAATGTTGGG -3'

Sequencing Primer
(F):5'- CCAGTGCAGCATGTACATCATATTTG -3'
(R):5'- TGGGTATCAACAAAAAGAAAACCAAG -3'

Posted On

2020-07-28