Mutagenetix > Incidental Mutation

Incidental Mutation 'R4653:Dpys'

351495

Institutional Source

Beutler Lab

Gene Symbol

Dpys

Ensembl Gene

ENSMUSG00000022304

Gene Name

dihydropyrimidinase

Synonyms

1300004I01Rik, 1200017I10Rik, DHPase

MMRRC Submission

041913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R4653 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39631883-39720866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 39656642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 475 (R475L)

Ref Sequence

ENSEMBL: ENSMUSP00000105935 (fasta)

Gene Model

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

AlphaFold

Q9EQF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022915
AA Change: R475L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: R475L

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 damaging
Transcript: ENSMUST00000110306
AA Change: R475L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: R475L

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

unknown
Transcript: ENSMUST00000155859
AA Change: R2L

Meta Mutation Damage Score

0.2124

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (66/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,264 (GRCm39)	T351A	probably benign	Het
3930402G23Rik	A	T	8: 10,976,075 (GRCm39)		noncoding transcript	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,932,230 (GRCm39)	E295*	probably null	Het
Abi3	T	C	11: 95,723,637 (GRCm39)	I215V	probably benign	Het
Adhfe1	G	T	1: 9,620,803 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,495,156 (GRCm39)		probably benign	Het
Ank	T	A	15: 27,590,447 (GRCm39)	W344R	probably null	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Ccdc39	A	G	3: 33,873,955 (GRCm39)		probably null	Het
Cd180	T	A	13: 102,841,416 (GRCm39)	L154H	probably damaging	Het
Cnp	A	T	11: 100,467,342 (GRCm39)	D95V	probably benign	Het
Cul1	T	C	6: 47,461,897 (GRCm39)	I20T	probably damaging	Het
Dnah6	T	C	6: 73,050,440 (GRCm39)	K3042R	possibly damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dync1i2	A	G	2: 71,078,199 (GRCm39)	N276S	probably damaging	Het
Ext2	T	C	2: 93,526,504 (GRCm39)	S711G	probably benign	Het
Fancm	A	G	12: 65,129,828 (GRCm39)	Y223C	probably damaging	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Garin5b	T	C	7: 4,761,054 (GRCm39)	R553G	possibly damaging	Het
Gcat	T	C	15: 78,919,487 (GRCm39)	S151P	probably damaging	Het
Gcm2	A	T	13: 41,256,317 (GRCm39)	D477E	probably benign	Het
Git1	A	G	11: 77,395,869 (GRCm39)	N468S	possibly damaging	Het
Gtf3c1	T	C	7: 125,273,272 (GRCm39)	I622V	probably benign	Het
Hsd17b13	G	A	5: 104,113,702 (GRCm39)	L251F	probably damaging	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Ly9	G	T	1: 171,421,597 (GRCm39)	H441Q	probably benign	Het
Mtcl2	A	G	2: 156,882,511 (GRCm39)	F514L	probably damaging	Het
Myo15b	G	A	11: 115,770,813 (GRCm39)		probably null	Het
Nomo1	G	T	7: 45,711,237 (GRCm39)	A639S	probably benign	Het
P3h2	T	C	16: 25,924,027 (GRCm39)	D136G	probably damaging	Het
Pde4dip	A	T	3: 97,674,654 (GRCm39)	D87E	probably damaging	Het
Pdpk1	A	T	17: 24,325,871 (GRCm39)	D108E	probably benign	Het
Pex26	C	T	6: 121,167,084 (GRCm39)	S231L	probably damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Ryr3	T	A	2: 112,483,108 (GRCm39)	N4213I	probably damaging	Het
Slc7a14	A	G	3: 31,311,831 (GRCm39)	V63A	probably damaging	Het
Sppl2a	C	T	2: 126,762,233 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,455,580 (GRCm39)	W3077R	probably damaging	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Sv2a	T	C	3: 96,098,078 (GRCm39)		probably null	Het
Themis2	A	G	4: 132,510,287 (GRCm39)	S638P	probably benign	Het
Trabd	A	G	15: 88,970,042 (GRCm39)	Y346C	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trmt1l	G	A	1: 151,315,320 (GRCm39)	V16I	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Usp13	A	T	3: 32,892,073 (GRCm39)	Q84L	probably damaging	Het
Vmn1r172	G	T	7: 23,359,997 (GRCm39)	G294V	probably damaging	Het
Vmn2r59	A	T	7: 41,693,228 (GRCm39)	H457Q	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vps8	T	C	16: 21,318,960 (GRCm39)	Y602H	probably damaging	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het

Other mutations in Dpys

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Dpys	APN	15	39,710,045 (GRCm39)	missense	probably damaging	1.00
IGL01408:Dpys	APN	15	39,656,702 (GRCm39)	missense	possibly damaging	0.74
IGL02372:Dpys	APN	15	39,656,667 (GRCm39)	missense	probably benign	0.17
IGL02949:Dpys	APN	15	39,690,279 (GRCm39)	missense	probably damaging	0.97
IGL03357:Dpys	APN	15	39,687,612 (GRCm39)	missense	probably damaging	1.00
IGL02837:Dpys	UTSW	15	39,720,701 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Dpys	UTSW	15	39,720,601 (GRCm39)	missense	probably damaging	0.96
R0315:Dpys	UTSW	15	39,720,734 (GRCm39)	missense	probably benign	0.01
R1252:Dpys	UTSW	15	39,687,636 (GRCm39)	missense	probably damaging	1.00
R2314:Dpys	UTSW	15	39,691,486 (GRCm39)	missense	possibly damaging	0.76
R2381:Dpys	UTSW	15	39,705,450 (GRCm39)	missense	probably damaging	1.00
R2961:Dpys	UTSW	15	39,648,010 (GRCm39)	missense	probably benign
R4702:Dpys	UTSW	15	39,656,798 (GRCm39)	missense	possibly damaging	0.69
R4978:Dpys	UTSW	15	39,690,332 (GRCm39)	missense	possibly damaging	0.94
R5640:Dpys	UTSW	15	39,705,462 (GRCm39)	missense	probably damaging	1.00
R5714:Dpys	UTSW	15	39,720,553 (GRCm39)	missense	probably damaging	0.98
R5758:Dpys	UTSW	15	39,690,395 (GRCm39)	missense	possibly damaging	0.67
R6017:Dpys	UTSW	15	39,710,114 (GRCm39)	missense	probably null	0.04
R6482:Dpys	UTSW	15	39,705,369 (GRCm39)	missense	probably damaging	1.00
R6788:Dpys	UTSW	15	39,720,559 (GRCm39)	missense	probably damaging	1.00
R7090:Dpys	UTSW	15	39,690,279 (GRCm39)	missense	probably damaging	0.97
R7098:Dpys	UTSW	15	39,656,727 (GRCm39)	missense	probably damaging	1.00
R7869:Dpys	UTSW	15	39,656,782 (GRCm39)	missense	probably damaging	1.00
R8030:Dpys	UTSW	15	39,691,486 (GRCm39)	missense	possibly damaging	0.76
R8092:Dpys	UTSW	15	39,710,010 (GRCm39)	missense	probably benign	0.00
R8318:Dpys	UTSW	15	39,648,061 (GRCm39)	missense	probably benign
R8347:Dpys	UTSW	15	39,720,709 (GRCm39)	missense	probably benign	0.03
R8352:Dpys	UTSW	15	39,656,720 (GRCm39)	missense	possibly damaging	0.46
R8452:Dpys	UTSW	15	39,656,720 (GRCm39)	missense	possibly damaging	0.46
R8914:Dpys	UTSW	15	39,720,619 (GRCm39)	missense	probably benign
R9341:Dpys	UTSW	15	39,656,748 (GRCm39)	missense	possibly damaging	0.88
R9343:Dpys	UTSW	15	39,656,748 (GRCm39)	missense	possibly damaging	0.88
R9403:Dpys	UTSW	15	39,691,467 (GRCm39)	missense	probably damaging	1.00
R9473:Dpys	UTSW	15	39,687,583 (GRCm39)	missense	possibly damaging	0.82
R9723:Dpys	UTSW	15	39,691,509 (GRCm39)	missense	probably damaging	1.00
Z1177:Dpys	UTSW	15	39,705,495 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TCACTGAAAGCTGGGGTGTG -3'
(R):5'- TGATGACCTGGAACTGTTCTG -3'

Sequencing Primer
(F):5'- AAAGCTGGGGTGTGCCTGTC -3'
(R):5'- CTGGTTTTACAAACACAGGAGGATC -3'

Posted On

2015-10-08