Mutagenetix > Incidental Mutations

Incidental Mutation 'R2130:Dpyd'

227926

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

040133-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118674568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 77 (V77A)

Ref Sequence

ENSEMBL: ENSMUSP00000143022 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: V77A

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

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: V77A

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

probably benign
Transcript: ENSMUST00000149101
AA Change: V77A

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

SMART Domains

Protein: ENSMUSP00000143022
Gene: ENSMUSG00000033308
AA Change: V77A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Adgrl2	T	C	3: 148,890,488	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,581,727	T212A	possibly damaging	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Apaf1	A	T	10: 91,060,165	Y348*	probably null	Het
Apobr	A	G	7: 126,587,206	T630A	probably benign	Het
Arhgap23	A	G	11: 97,451,561	D223G	possibly damaging	Het
Asic1	A	T	15: 99,671,875	T26S	possibly damaging	Het
Atp13a2	T	A	4: 141,005,016	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,654,994	G438D	probably damaging	Het
Bbc3	T	C	7: 16,312,343	V68A	possibly damaging	Het
Birc6	T	C	17: 74,659,154		probably benign	Het
Btnl9	A	G	11: 49,180,696	F100S	probably damaging	Het
Ccpg1	A	G	9: 73,013,158	N685S	probably damaging	Het
Ces3b	T	A	8: 105,092,975		probably null	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clhc1	A	G	11: 29,557,663	I126V	probably benign	Het
Crocc	T	C	4: 141,029,102	I1071V	probably benign	Het
Dbt	T	A	3: 116,539,124	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,544,059	S62P	possibly damaging	Het
Dram2	T	A	3: 106,570,760	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,012,040	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253	W3654R	probably damaging	Het
Fam129b	A	G	2: 32,923,647	K624R	probably benign	Het
Fam208a	T	A	14: 27,446,388	Y296N	probably damaging	Het
Fam208a	A	G	14: 27,476,614	N1301S	possibly damaging	Het
Fbxw10	T	A	11: 62,859,857	I422N	probably damaging	Het
Fgf17	T	C	14: 70,638,487	R102G	probably damaging	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Gm6578	C	A	6: 12,100,187		noncoding transcript	Het
Gm8298	T	C	3: 59,865,348	V91A	probably damaging	Het
Gm8374	T	C	14: 7,364,194	T49A	probably damaging	Het
Gm9797	G	T	10: 11,609,369		noncoding transcript	Het
Golga3	T	C	5: 110,202,939		probably null	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Isoc2b	A	T	7: 4,851,439	I31N	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Krtap16-1	A	T	11: 99,985,776	C267*	probably null	Het
Lamc2	T	A	1: 153,127,124	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,192,049	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,185,294	F214S	probably damaging	Het
Mki67	T	A	7: 135,704,241		probably null	Het
Mpo	A	G	11: 87,797,361	D282G	possibly damaging	Het
Myh10	A	G	11: 68,807,289		probably benign	Het
Myo15b	G	A	11: 115,871,643	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 126,390,462	V250A	probably benign	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Olfml3	T	A	3: 103,735,869	M399L	probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Olfr683	T	A	7: 105,143,550	I254F	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Psph	T	A	5: 129,787,539		probably null	Het
Ptpro	A	G	6: 137,411,116		probably null	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,448,417		probably benign	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Rnf17	T	C	14: 56,493,354	V1205A	probably damaging	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Sgo2b	T	C	8: 63,927,147	R884G	probably benign	Het
Slc10a5	G	T	3: 10,335,218	D127E	probably benign	Het
Slc25a35	T	G	11: 68,968,965	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,325,041	L194P	possibly damaging	Het
Snw1	T	G	12: 87,452,703		probably benign	Het
Sort1	T	A	3: 108,351,686	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764		probably benign	Het
Ssxa1	T	A	X: 21,119,342		probably benign	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Tacr3	T	C	3: 134,932,180	V366A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,596,041	I279T	probably damaging	Het
Tmem98	A	G	11: 80,817,522	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Trim41	C	A	11: 48,807,592	G516W	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	T	C	2: 76,742,517	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,461,656	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,400	I1683N	probably benign	Het
Vps13d	C	T	4: 145,156,101	R968H	probably benign	Het
Vwf	C	T	6: 125,657,057	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp459	A	T	13: 67,408,276	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,952,636	Y15*	probably null	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
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
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'- TACCCAATTAAGCCGCGTG -3'
(R):5'- TGAGGCTTAACATTTATGCAGCTTC -3'

Sequencing Primer
(F):5'- TGAGCCCTTGATCAATACAATCG -3'
(R):5'- TTATGCAGCTTCAAAACCAAAAGTAC -3'

Posted On

2014-09-17