Mutagenetix > Incidental Mutation

Incidental Mutation 'R0741:Dpyd'

70677

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

E330028L06Rik, DPD

MMRRC Submission

038922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118355778-119226573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118468154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 56 (E56G)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039177] [ENSMUST00000149101]

AlphaFold

Q8CHR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039177
AA Change: E56G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: E56G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126254

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149101
AA Change: E56G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143022
Gene: ENSMUSG00000033308
AA Change: E56G

Domain	Start	End	E-Value	Type
PDB:1H7X\|D	1	78	2e-40	PDB
SCOP:d1gtea1	2	78	3e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150950

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.1%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	T	A	1: 93,329,309 (GRCm39)	I701N	probably damaging	Het
Asb7	A	T	7: 66,309,882 (GRCm39)	N111K	probably benign	Het
Atp10a	T	A	7: 58,478,337 (GRCm39)	L1460Q	possibly damaging	Het
Auh	T	C	13: 53,083,638 (GRCm39)	T14A	possibly damaging	Het
Caskin2	A	G	11: 115,695,626 (GRCm39)	V245A	probably damaging	Het
Cryba4	G	A	5: 112,394,554 (GRCm39)	R192C	probably damaging	Het
Ctsq	T	A	13: 61,184,019 (GRCm39)	D301V	probably damaging	Het
Dtd2	T	C	12: 52,046,455 (GRCm39)	K128R	probably benign	Het
Eps8l3	A	G	3: 107,790,141 (GRCm39)	T141A	probably benign	Het
Evc	A	T	5: 37,483,739 (GRCm39)	I187N	possibly damaging	Het
Fam120a	A	G	13: 49,045,416 (GRCm39)	S807P	possibly damaging	Het
Fbxw22	G	A	9: 109,211,287 (GRCm39)	S338L	probably benign	Het
Gcnt4	G	T	13: 97,082,940 (GRCm39)	E79*	probably null	Het
Get4	G	A	5: 139,249,384 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,654,128 (GRCm39)	V954A	probably benign	Het
Ifi206	C	T	1: 173,301,315 (GRCm39)	V788M	probably benign	Het
Iqgap1	A	G	7: 80,370,735 (GRCm39)	S1545P	probably benign	Het
Kif21b	A	G	1: 136,087,482 (GRCm39)	T933A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Magee2	A	G	X: 103,899,472 (GRCm39)	L393P	probably damaging	Het
Mtrr	T	C	13: 68,727,658 (GRCm39)		probably null	Het
Nes	A	G	3: 87,886,274 (GRCm39)	E1467G	probably damaging	Het
Nol3	C	G	8: 106,005,756 (GRCm39)	A50G	probably damaging	Het
Nr2f2	G	A	7: 70,007,745 (GRCm39)	R113C	probably damaging	Het
Obscn	CCACACACACACAC	CCACACACACAC	11: 58,954,279 (GRCm39)		probably null	Het
Or10a3m	T	A	7: 108,312,811 (GRCm39)	C84S	probably benign	Het
Pnkd	T	A	1: 74,391,018 (GRCm39)	S337R	possibly damaging	Het
Ptprh	A	G	7: 4,557,172 (GRCm39)		probably null	Het
Ralgapa1	A	C	12: 55,723,366 (GRCm39)	V1767G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skap1	A	C	11: 96,383,759 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,722,902 (GRCm39)	S1250P	probably benign	Het
Txndc5	T	C	13: 38,712,236 (GRCm39)	H50R	possibly damaging	Het
Usp25	C	A	16: 76,868,596 (GRCm39)	D332E	possibly damaging	Het
Vgll1	A	T	X: 56,141,644 (GRCm39)		probably benign	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
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
R4638:Dpyd	UTSW	3	119,059,726 (GRCm39)	missense	probably benign	0.03
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'- CATCATAGGACTGGAGAGTTTGTGGC -3'
(R):5'- GCACTGAGGCTTAACATTTATGCAGC -3'

Sequencing Primer
(F):5'- GGCTGTTGAATTTCACTGTCG -3'
(R):5'- ATACCTTAGAGAACAGAGCTGAATGC -3'

Posted On

2013-09-30