Mutagenetix > Incidental Mutations

Incidental Mutation 'R4980:Dpyd'

384733

Institutional Source

Beutler Lab

Gene Symbol

Dpyd

Ensembl Gene

ENSMUSG00000033308

Gene Name

dihydropyrimidine dehydrogenase

Synonyms

DPD, E330028L06Rik

MMRRC Submission

042575-MU

Accession Numbers

Genbank: NM_170778; MGI: 2139667

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118562129-119432924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118917118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 392 (S392P)

Ref Sequence

ENSEMBL: ENSMUSP00000039429 (fasta)

Gene Model

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

AlphaFold

Q8CHR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000039177
AA Change: S392P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: S392P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,426	C189S	probably damaging	Het
4932438A13Rik	T	C	3: 36,943,312	S1173P	probably damaging	Het
9030624J02Rik	T	A	7: 118,807,009	D605E	probably damaging	Het
Abcd3	A	T	3: 121,769,268		probably null	Het
Adar	T	C	3: 89,730,814	S2P	probably benign	Het
Amhr2	T	A	15: 102,454,330	S511T	probably benign	Het
Atg16l1	T	C	1: 87,766,831	S77P	possibly damaging	Het
C530008M17Rik	A	T	5: 76,857,574	D594V	unknown	Het
Cacna1i	T	C	15: 80,348,449	F218L	probably damaging	Het
Cd5l	A	T	3: 87,367,601	H149L	probably benign	Het
Cdc14a	T	A	3: 116,392,857	R92*	probably null	Het
Col19a1	T	C	1: 24,526,483	T256A	unknown	Het
Col22a1	C	T	15: 71,801,943	A975T	unknown	Het
Cyp20a1	T	C	1: 60,363,214	W153R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dst	A	T	1: 34,256,288	L957F	probably damaging	Het
Emilin2	G	T	17: 71,253,071	D970E	possibly damaging	Het
Fam208a	T	A	14: 27,461,425	L614I	probably benign	Het
Fbn2	T	C	18: 58,010,631	E2784G	probably benign	Het
Fbxw10	T	C	11: 62,847,757	I159T	possibly damaging	Het
Fgfr2	T	C	7: 130,201,080	Y192C	probably damaging	Het
Gm7298	A	G	6: 121,759,239		probably null	Het
Igf2r	C	T	17: 12,703,360		probably null	Het
Ints4	T	C	7: 97,501,850		probably null	Het
Kcnf1	A	G	12: 17,175,011	F403S	possibly damaging	Het
Kif11	C	T	19: 37,387,371	Q211*	probably null	Het
Kif13a	A	G	13: 46,752,746	S574P	possibly damaging	Het
Kifc3	T	A	8: 95,126,549	T60S	probably benign	Het
Krt82	T	C	15: 101,545,099	D284G	possibly damaging	Het
Lancl1	T	C	1: 67,004,809	Y344C	probably benign	Het
Ltbp3	A	T	19: 5,753,927		probably null	Het
Map3k4	A	G	17: 12,272,071	F158L	probably damaging	Het
Mast2	A	G	4: 116,317,751	Y469H	probably damaging	Het
Mcf2l	T	G	8: 12,984,883	F97C	probably damaging	Het
Mpeg1	T	C	19: 12,461,540	S121P	probably damaging	Het
Mycbp2	A	T	14: 103,260,385		probably null	Het
Myt1l	A	T	12: 29,827,039	T230S	unknown	Het
Naa15	T	C	3: 51,458,752		probably null	Het
Nans	G	A	4: 46,492,764	R64Q	probably benign	Het
Nbea	C	T	3: 55,647,351		probably null	Het
Nbea	T	C	3: 55,953,045	E1870G	probably benign	Het
Ncapd3	T	C	9: 27,063,295	S688P	probably damaging	Het
Nedd4l	G	T	18: 65,080,060	E96*	probably null	Het
Olfr1444	A	T	19: 12,862,020	M82L	probably benign	Het
Olfr683	T	A	7: 105,144,224	Y23F	probably benign	Het
Pdxk	A	G	10: 78,451,484	L81P	probably damaging	Het
Plec	T	A	15: 76,193,295	R269*	probably null	Het
Plec	T	C	15: 76,205,865	I92V	probably damaging	Het
Ppara	T	C	15: 85,787,233	Y112H	probably damaging	Het
Ppp2r2c	A	T	5: 36,952,388	M364L	probably benign	Het
Prag1	A	C	8: 36,139,586	H827P	probably damaging	Het
Ptprg	A	G	14: 12,154,421	N714S	probably benign	Het
Rbp2	G	A	9: 98,498,841	V67I	probably benign	Het
Rictor	T	A	15: 6,781,660	Y835N	probably damaging	Het
Ripply2	A	G	9: 87,019,694	Q91R	probably damaging	Het
Sap130	C	A	18: 31,649,646	H203Q	possibly damaging	Het
Sema4d	T	C	13: 51,711,234	Y358C	probably damaging	Het
Serbp1	G	A	6: 67,277,888	D294N	probably benign	Het
Slc16a10	A	G	10: 40,080,805	W113R	probably damaging	Het
Slc6a6	A	G	6: 91,726,060	Y138C	probably damaging	Het
Spag11a	T	C	8: 19,157,946	M1T	probably null	Het
Spata20	T	C	11: 94,484,609	M120V	probably damaging	Het
Stk32a	A	C	18: 43,314,048	K357Q	probably benign	Het
Trmo	A	T	4: 46,389,364	C10*	probably null	Het
Tsc22d1	T	G	14: 76,418,256	V643G	probably benign	Het
Vangl2	A	T	1: 172,009,565	L226I	probably damaging	Het
Wnt3a	A	T	11: 59,249,800	C297S	probably damaging	Het
Wwc1	T	C	11: 35,888,103	K301E	possibly damaging	Het
Zfhx4	C	T	3: 5,398,979	T1399I	possibly damaging	Het
Zswim4	C	T	8: 84,226,667		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
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
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'- TGCCTGAAACTCATCTATGGTG -3'
(R):5'- TCACACATGCATCTTAGAAATGCC -3'

Sequencing Primer
(F):5'- CCTGAAACTCATCTATGGTGGAAAAG -3'
(R):5'- AGAAATGCCTTACCTTTGGGATCC -3'

Posted On

2016-05-10