Mutagenetix > Incidental Mutation

Incidental Mutation 'R5348:Dpyd'

422722

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

E330028L06Rik, DPD

MMRRC Submission

042927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118355778-119226573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118575592 bp (GRCm39)

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
Abcg5	A	T	17: 84,978,634 (GRCm39)	C275S	possibly damaging	Het
Bltp1	A	G	3: 37,102,295 (GRCm39)	E1331G	probably damaging	Het
Cdk12	T	A	11: 98,095,118 (GRCm39)	S309T	probably benign	Het
Cep295nl	T	C	11: 118,224,425 (GRCm39)	R140G	probably damaging	Het
Chd8	A	G	14: 52,470,155 (GRCm39)	V485A	probably damaging	Het
Chn2	A	G	6: 54,277,203 (GRCm39)	I279V	probably damaging	Het
Cux2	A	G	5: 122,004,041 (GRCm39)	S1032P	probably damaging	Het
Ddx55	T	A	5: 124,692,628 (GRCm39)	M44K	probably damaging	Het
Fbxo10	A	G	4: 45,058,934 (GRCm39)	W268R	probably damaging	Het
Gmfg	A	G	7: 28,145,819 (GRCm39)	D86G	probably benign	Het
Gpd1	T	C	15: 99,620,021 (GRCm39)	V273A	possibly damaging	Het
Grhpr	T	C	4: 44,985,393 (GRCm39)	I158T	probably damaging	Het
Itpr2	A	G	6: 146,378,191 (GRCm39)	F53L	possibly damaging	Het
Kctd21	A	G	7: 96,997,177 (GRCm39)	I217V	probably benign	Het
Lrfn2	A	G	17: 49,403,718 (GRCm39)	T614A	probably benign	Het
Lrrc7	T	A	3: 157,880,963 (GRCm39)	D491V	probably benign	Het
Myo7b	T	C	18: 32,116,972 (GRCm39)	E916G	probably damaging	Het
Nf1	C	T	11: 79,455,725 (GRCm39)	T550I	probably damaging	Het
Nsd1	A	G	13: 55,460,147 (GRCm39)	T2125A	probably benign	Het
Olfml2b	A	G	1: 170,489,995 (GRCm39)	E205G	probably benign	Het
Or8k37	A	T	2: 86,469,150 (GRCm39)	L301I	probably benign	Het
Papolb	T	C	5: 142,514,972 (GRCm39)	T224A	possibly damaging	Het
Pcnx2	T	C	8: 126,545,495 (GRCm39)	E1172G	probably damaging	Het
Ppip5k2	A	G	1: 97,675,317 (GRCm39)	L362S	possibly damaging	Het
Ppp1r9b	T	A	11: 94,887,438 (GRCm39)	Y59*	probably null	Het
Pramel12	T	C	4: 143,143,351 (GRCm39)	L39P	probably damaging	Het
Rapgef5	T	A	12: 117,652,346 (GRCm39)	S76R	probably benign	Het
Rnh1	A	T	7: 140,743,321 (GRCm39)	V218D	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Slc4a7	G	T	14: 14,786,310 (GRCm38)	V999L	probably benign	Het
Slco4c1	A	T	1: 96,770,254 (GRCm39)	I270N	probably damaging	Het
Tdp1	A	G	12: 99,881,765 (GRCm39)	Y498C	probably damaging	Het
Tfip11	A	G	5: 112,483,534 (GRCm39)	S650G	probably benign	Het
Ttn	T	C	2: 76,608,638 (GRCm39)	T17793A	possibly damaging	Het
Ulk2	T	C	11: 61,674,439 (GRCm39)	T856A	probably benign	Het
Vps13d	C	T	4: 144,792,459 (GRCm39)	G3726E	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
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
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'- CCAGTGCAGCATGTACATCATATTTG -3'
(R):5'- CACACTGAAACACATACAAATGTTGGG -3'

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

Posted On

2016-08-04