Mutagenetix > Incidental Mutation

Incidental Mutation 'R5348:Dpyd'

422722

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

042927-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118781943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 143 (H143Q)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039177
AA Change: H143Q

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

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: H143Q

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

noncoding transcript
Transcript: ENSMUST00000150950

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,048,146	E1331G	probably damaging	Het
Abcg5	A	T	17: 84,671,206	C275S	possibly damaging	Het
Cdk12	T	A	11: 98,204,292	S309T	probably benign	Het
Cep295nl	T	C	11: 118,333,599	R140G	probably damaging	Het
Chd8	A	G	14: 52,232,698	V485A	probably damaging	Het
Chn2	A	G	6: 54,300,218	I279V	probably damaging	Het
Cux2	A	G	5: 121,865,978	S1032P	probably damaging	Het
Ddx55	T	A	5: 124,554,565	M44K	probably damaging	Het
Fbxo10	A	G	4: 45,058,934	W268R	probably damaging	Het
Gmfg	A	G	7: 28,446,394	D86G	probably benign	Het
Gpd1	T	C	15: 99,722,140	V273A	possibly damaging	Het
Grhpr	T	C	4: 44,985,393	I158T	probably damaging	Het
Itpr2	A	G	6: 146,476,693	F53L	possibly damaging	Het
Kctd21	A	G	7: 97,347,970	I217V	probably benign	Het
Lrfn2	A	G	17: 49,096,690	T614A	probably benign	Het
Lrrc7	T	A	3: 158,175,326	D491V	probably benign	Het
Myo7b	T	C	18: 31,983,919	E916G	probably damaging	Het
Nf1	C	T	11: 79,564,899	T550I	probably damaging	Het
Nsd1	A	G	13: 55,312,334	T2125A	probably benign	Het
Olfml2b	A	G	1: 170,662,426	E205G	probably benign	Het
Olfr1084	A	T	2: 86,638,806	L301I	probably benign	Het
Papolb	T	C	5: 142,529,217	T224A	possibly damaging	Het
Pcnx2	T	C	8: 125,818,756	E1172G	probably damaging	Het
Ppip5k2	A	G	1: 97,747,592	L362S	possibly damaging	Het
Ppp1r9b	T	A	11: 94,996,612	Y59*	probably null	Het
Pramef8	T	C	4: 143,416,781	L39P	probably damaging	Het
Rapgef5	T	A	12: 117,688,611	S76R	probably benign	Het
Rnh1	A	T	7: 141,163,408	V218D	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc4a7	G	T	14: 14,786,310	V999L	probably benign	Het
Slco4c1	A	T	1: 96,842,529	I270N	probably damaging	Het
Tdp1	A	G	12: 99,915,506	Y498C	probably damaging	Het
Tfip11	A	G	5: 112,335,668	S650G	probably benign	Het
Ttn	T	C	2: 76,778,294	T17793A	possibly damaging	Het
Ulk2	T	C	11: 61,783,613	T856A	probably benign	Het
Vps13d	C	T	4: 145,065,889	G3726E	probably 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
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'- CCAGTGCAGCATGTACATCATATTTG -3'
(R):5'- CACACTGAAACACATACAAATGTTGGG -3'

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

Posted On

2016-08-04