Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:Dpys'

290958

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpys

Ensembl Gene

ENSMUSG00000022304

Gene Name

dihydropyrimidinase

Synonyms

1300004I01Rik, DHPase, 1200017I10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

39768487-39857470 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39793271 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 467 (P467T)

Ref Sequence

ENSEMBL: ENSMUSP00000105935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022915] [ENSMUST00000110306]

Predicted Effect

probably benign
Transcript: ENSMUST00000022915
AA Change: P467T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: P467T

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	58	447	1.2e-39	PFAM
Pfam:Amidohydro_3	310	448	6.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110306
AA Change: P467T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: P467T

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_5	25	98	8.3e-14	PFAM
Pfam:Amidohydro_4	53	404	4e-22	PFAM
Pfam:Amidohydro_1	58	407	1e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147378

Predicted Effect

probably benign
Transcript: ENSMUST00000155859

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in Dpys

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Dpys	APN	15	39846649	missense	probably damaging	1.00
IGL01408:Dpys	APN	15	39793306	missense	possibly damaging	0.74
IGL02949:Dpys	APN	15	39826883	missense	probably damaging	0.97
IGL03357:Dpys	APN	15	39824216	missense	probably damaging	1.00
IGL02837:Dpys	UTSW	15	39857305	missense	probably damaging	1.00
PIT4468001:Dpys	UTSW	15	39857205	missense	probably damaging	0.96
R0315:Dpys	UTSW	15	39857338	missense	probably benign	0.01
R1252:Dpys	UTSW	15	39824240	missense	probably damaging	1.00
R2314:Dpys	UTSW	15	39828090	missense	possibly damaging	0.76
R2381:Dpys	UTSW	15	39842054	missense	probably damaging	1.00
R2961:Dpys	UTSW	15	39784614	missense	probably benign
R4653:Dpys	UTSW	15	39793246	missense	probably damaging	0.97
R4702:Dpys	UTSW	15	39793402	missense	possibly damaging	0.69
R4978:Dpys	UTSW	15	39826936	missense	possibly damaging	0.94
R5640:Dpys	UTSW	15	39842066	missense	probably damaging	1.00
R5714:Dpys	UTSW	15	39857157	missense	probably damaging	0.98
R5758:Dpys	UTSW	15	39826999	missense	possibly damaging	0.67
R6017:Dpys	UTSW	15	39846718	missense	probably null	0.04
R6482:Dpys	UTSW	15	39841973	missense	probably damaging	1.00
R6788:Dpys	UTSW	15	39857163	missense	probably damaging	1.00
R7090:Dpys	UTSW	15	39826883	missense	probably damaging	0.97
R7098:Dpys	UTSW	15	39793331	missense	probably damaging	1.00
R7869:Dpys	UTSW	15	39793386	missense	probably damaging	1.00
R8030:Dpys	UTSW	15	39828090	missense	possibly damaging	0.76
R8092:Dpys	UTSW	15	39846614	missense	probably benign	0.00
R8318:Dpys	UTSW	15	39784665	missense	probably benign
R8347:Dpys	UTSW	15	39857313	missense	probably benign	0.03
R8352:Dpys	UTSW	15	39793324	missense	possibly damaging	0.46
R8452:Dpys	UTSW	15	39793324	missense	possibly damaging	0.46
Z1177:Dpys	UTSW	15	39842099	missense	probably benign	0.11

Posted On

2015-04-16