Mutagenetix > Incidental Mutation

Incidental Mutation 'R4638:Dpyd'

350787

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

E330028L06Rik, DPD

MMRRC Submission

041900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118355778-119226573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119059726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 808 (S808C)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: S808C

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: S808C

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

0.0907

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

91% (40/44)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,369 (GRCm39)	D155G	probably damaging	Het
Ano4	C	T	10: 88,790,559 (GRCm39)	A847T	probably damaging	Het
B4galt7	T	C	13: 55,747,959 (GRCm39)		probably benign	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cebpa	A	G	7: 34,819,687 (GRCm39)	N282D	probably damaging	Het
Cngb1	G	A	8: 95,992,647 (GRCm39)	T196M	probably damaging	Het
Cobll1	T	C	2: 64,929,581 (GRCm39)	M619V	probably benign	Het
Coro7	A	T	16: 4,450,151 (GRCm39)	I566N	probably damaging	Het
Fbn2	A	G	18: 58,143,376 (GRCm39)	V2893A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Krba1	T	A	6: 48,386,685 (GRCm39)	L441*	probably null	Het
Lama5	T	C	2: 179,832,206 (GRCm39)	T1712A	possibly damaging	Het
Lnpep	G	A	17: 17,795,569 (GRCm39)	T314I	probably damaging	Het
Lyst	T	C	13: 13,871,379 (GRCm39)		probably null	Het
Naa16	C	A	14: 79,577,473 (GRCm39)		probably null	Het
Nek7	A	T	1: 138,472,038 (GRCm39)	F34Y	probably benign	Het
Or12e7	T	C	2: 87,288,327 (GRCm39)	S273P	possibly damaging	Het
Or2ag17	A	T	7: 106,390,205 (GRCm39)	M1K	probably null	Het
Park7	G	A	4: 150,991,556 (GRCm39)	Q45*	probably null	Het
Pclo	C	A	5: 14,730,447 (GRCm39)	S2983*	probably null	Het
Pth1r	A	G	9: 110,556,141 (GRCm39)	L244P	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Slc11a1	G	A	1: 74,414,437 (GRCm39)		probably benign	Het
Slc12a8	T	G	16: 33,410,693 (GRCm39)	S200A	possibly damaging	Het
Slc7a10	A	G	7: 34,897,355 (GRCm39)	E262G	probably damaging	Het
Smg1	T	C	7: 117,795,149 (GRCm39)		probably benign	Het
Snapc4	A	G	2: 26,255,314 (GRCm39)	L1070P	probably damaging	Het
Sp2	A	G	11: 96,848,300 (GRCm39)	I435T	possibly damaging	Het
Srp72	A	G	5: 77,138,142 (GRCm39)	E309G	probably benign	Het
Sympk	G	T	7: 18,777,385 (GRCm39)	R545L	possibly damaging	Het
Tie1	C	T	4: 118,341,039 (GRCm39)	R314H	probably benign	Het
Tmem198	G	T	1: 75,456,351 (GRCm39)	G2*	probably null	Het
Tmem81	A	G	1: 132,435,943 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,652,821 (GRCm39)	V10938E	possibly damaging	Het
Zfp773	T	A	7: 7,138,335 (GRCm39)	Y100F	probably damaging	Het

Other mutations in Dpyd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Dpyd	APN	3	118,737,891 (GRCm39)	missense	probably damaging	1.00
IGL00508:Dpyd	APN	3	118,858,636 (GRCm39)	missense	probably benign	0.06
IGL02113:Dpyd	APN	3	118,792,868 (GRCm39)	missense	probably benign	0.06
IGL02177:Dpyd	APN	3	118,858,559 (GRCm39)	missense	possibly damaging	0.76
IGL03001:Dpyd	APN	3	118,710,891 (GRCm39)	missense	probably benign	0.07
IGL03106:Dpyd	APN	3	118,988,783 (GRCm39)	missense	probably benign	0.03
IGL03399:Dpyd	APN	3	119,108,426 (GRCm39)	missense	probably damaging	0.98
F5770:Dpyd	UTSW	3	118,690,775 (GRCm39)	nonsense	probably null
F6893:Dpyd	UTSW	3	118,597,783 (GRCm39)	critical splice donor site	probably null
R0014:Dpyd	UTSW	3	118,935,584 (GRCm39)	missense	probably damaging	1.00
R0081:Dpyd	UTSW	3	118,737,904 (GRCm39)	missense	probably benign	0.00
R0267:Dpyd	UTSW	3	118,710,921 (GRCm39)	missense	probably benign
R0349:Dpyd	UTSW	3	118,710,748 (GRCm39)	nonsense	probably null
R0387:Dpyd	UTSW	3	119,220,875 (GRCm39)	missense	probably benign	0.21
R0523:Dpyd	UTSW	3	118,692,852 (GRCm39)	missense	probably benign
R0555:Dpyd	UTSW	3	119,225,191 (GRCm39)	missense	probably damaging	1.00
R0652:Dpyd	UTSW	3	119,220,924 (GRCm39)	missense	probably damaging	1.00
R0741:Dpyd	UTSW	3	118,468,154 (GRCm39)	missense	possibly damaging	0.79
R1313:Dpyd	UTSW	3	118,692,810 (GRCm39)	splice site	probably benign
R1554:Dpyd	UTSW	3	118,858,695 (GRCm39)	splice site	probably null
R1610:Dpyd	UTSW	3	118,858,655 (GRCm39)	missense	probably benign
R1710:Dpyd	UTSW	3	118,404,092 (GRCm39)	critical splice acceptor site	probably null
R1861:Dpyd	UTSW	3	118,710,780 (GRCm39)	missense	probably damaging	1.00
R2103:Dpyd	UTSW	3	118,858,601 (GRCm39)	missense	probably benign	0.02
R2130:Dpyd	UTSW	3	118,468,217 (GRCm39)	missense	probably benign
R2131:Dpyd	UTSW	3	118,468,217 (GRCm39)	missense	probably benign
R2882:Dpyd	UTSW	3	118,858,679 (GRCm39)	missense	probably damaging	0.99
R3771:Dpyd	UTSW	3	119,205,927 (GRCm39)	critical splice donor site	probably null
R3978:Dpyd	UTSW	3	118,690,738 (GRCm39)	critical splice acceptor site	probably benign
R3978:Dpyd	UTSW	3	118,690,737 (GRCm39)	critical splice acceptor site	probably benign
R4030:Dpyd	UTSW	3	118,690,815 (GRCm39)	missense	probably benign	0.03
R4065:Dpyd	UTSW	3	118,690,738 (GRCm39)	critical splice acceptor site	probably benign
R4066:Dpyd	UTSW	3	118,690,738 (GRCm39)	critical splice acceptor site	probably benign
R4234:Dpyd	UTSW	3	119,225,233 (GRCm39)	missense	probably damaging	1.00
R4502:Dpyd	UTSW	3	118,591,186 (GRCm39)	missense	probably damaging	1.00
R4980:Dpyd	UTSW	3	118,710,767 (GRCm39)	missense	probably damaging	0.99
R5262:Dpyd	UTSW	3	118,591,071 (GRCm39)	nonsense	probably null
R5348:Dpyd	UTSW	3	118,575,592 (GRCm39)	missense	probably benign
R5587:Dpyd	UTSW	3	118,858,600 (GRCm39)	missense	probably damaging	1.00
R5611:Dpyd	UTSW	3	118,987,942 (GRCm39)	missense	probably benign
R5665:Dpyd	UTSW	3	118,710,741 (GRCm39)	missense	probably damaging	1.00
R5716:Dpyd	UTSW	3	118,692,828 (GRCm39)	missense	probably damaging	1.00
R5786:Dpyd	UTSW	3	119,220,886 (GRCm39)	missense	probably damaging	0.97
R6046:Dpyd	UTSW	3	119,225,224 (GRCm39)	missense	probably benign	0.01
R6404:Dpyd	UTSW	3	119,059,606 (GRCm39)	missense	probably benign	0.02
R6703:Dpyd	UTSW	3	118,690,849 (GRCm39)	splice site	probably null
R7037:Dpyd	UTSW	3	118,692,938 (GRCm39)	missense	probably benign	0.00
R7215:Dpyd	UTSW	3	119,059,681 (GRCm39)	missense	probably benign	0.11
R7301:Dpyd	UTSW	3	118,692,933 (GRCm39)	missense	possibly damaging	0.90
R7336:Dpyd	UTSW	3	118,858,570 (GRCm39)	missense	probably damaging	1.00
R7714:Dpyd	UTSW	3	118,597,780 (GRCm39)	missense	probably benign	0.01
R8238:Dpyd	UTSW	3	118,988,842 (GRCm39)	splice site	probably null
R8306:Dpyd	UTSW	3	119,205,822 (GRCm39)	missense	probably benign
R8315:Dpyd	UTSW	3	119,108,534 (GRCm39)	missense	probably benign	0.09
R8321:Dpyd	UTSW	3	118,575,573 (GRCm39)	missense	possibly damaging	0.84
R8342:Dpyd	UTSW	3	119,108,452 (GRCm39)	missense	possibly damaging	0.60
R8735:Dpyd	UTSW	3	118,935,565 (GRCm39)	missense	possibly damaging	0.74
R8750:Dpyd	UTSW	3	118,935,585 (GRCm39)	missense	probably damaging	1.00
R8874:Dpyd	UTSW	3	118,792,981 (GRCm39)	missense	probably damaging	1.00
R8910:Dpyd	UTSW	3	118,404,167 (GRCm39)	missense	probably benign	0.17
R8973:Dpyd	UTSW	3	119,108,582 (GRCm39)	critical splice donor site	probably null
R9070:Dpyd	UTSW	3	118,792,892 (GRCm39)	missense	probably damaging	0.98
R9132:Dpyd	UTSW	3	118,710,897 (GRCm39)	missense	probably damaging	1.00
R9198:Dpyd	UTSW	3	118,553,303 (GRCm39)	critical splice acceptor site	probably null
R9260:Dpyd	UTSW	3	119,108,447 (GRCm39)	missense	possibly damaging	0.95
R9307:Dpyd	UTSW	3	119,108,560 (GRCm39)	missense	probably benign
V7581:Dpyd	UTSW	3	118,690,775 (GRCm39)	nonsense	probably null
V7582:Dpyd	UTSW	3	118,690,775 (GRCm39)	nonsense	probably null
V7583:Dpyd	UTSW	3	118,690,775 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGCTGCCATTGCTTAACG -3'
(R):5'- CAGGGAGTGAAGTCTAGGTTTTCTC -3'

Sequencing Primer
(F):5'- GCTGCCATTGCTTAACGCTAAATAG -3'
(R):5'- AGTGAAGTCTAGGTTTTCTCAGACTC -3'

Posted On

2015-10-08