Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Upp1'

169282

Institutional Source

Beutler Lab

Gene Symbol

Upp1

Ensembl Gene

ENSMUSG00000020407

Gene Name

uridine phosphorylase 1

Synonyms

UPase, Up, UdRPase

MMRRC Submission

040867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9068103-9086170 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 9084708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020677] [ENSMUST00000020677] [ENSMUST00000101525] [ENSMUST00000101525] [ENSMUST00000130522] [ENSMUST00000164791] [ENSMUST00000164791] [ENSMUST00000170444] [ENSMUST00000170444] [ENSMUST00000172452]

AlphaFold

P52624

Predicted Effect

probably null
Transcript: ENSMUST00000020677

SMART Domains

Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	55	305	1.9e-32	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000020677

SMART Domains

Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	55	305	1.9e-32	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101525

SMART Domains

Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	55	305	1.9e-31	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101525

SMART Domains

Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	55	305	1.9e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130522

SMART Domains

Protein: ENSMUSP00000123285
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
PDB:3NBQ\|D	1	137	9e-76	PDB
SCOP:d1k9sa_	43	127	1e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146696

Predicted Effect

probably null
Transcript: ENSMUST00000164791

SMART Domains

Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	55	305	1.9e-32	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164791

SMART Domains

Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	55	305	1.9e-32	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166455

SMART Domains

Protein: ENSMUSP00000129276
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	45	143	6.9e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166455

SMART Domains

Protein: ENSMUSP00000129276
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	45	143	6.9e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170444

SMART Domains

Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	55	149	3.9e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170444

SMART Domains

Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	55	149	3.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172452

SMART Domains

Protein: ENSMUSP00000129787
Gene: ENSMUSG00000020407

Domain	Start	End	E-Value	Type
PDB:3NBQ\|D	1	114	4e-60	PDB
SCOP:d1lx7a_	35	114	7e-10	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a targeted disruption have increased uridine concentration in tissues, urine and blood, along with disorders of various nucleotide metabolisms and decreased sensitivity to pentobarbital and 5-fluorouracil. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,750,787 (GRCm39)	S533R	probably benign	Het
Amph	C	T	13: 19,288,461 (GRCm39)	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279 (GRCm39)	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,703,137 (GRCm39)	C845R	probably damaging	Het
Calml4	A	G	9: 62,778,622 (GRCm39)	K12E	probably benign	Het
Chrd	C	T	16: 20,556,283 (GRCm39)	R615W	probably damaging	Het
Chst15	T	A	7: 131,870,798 (GRCm39)	K246*	probably null	Het
Cmtr2	G	A	8: 110,948,235 (GRCm39)	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,338,525 (GRCm39)	C186*	probably null	Het
Cyp3a13	G	T	5: 137,909,892 (GRCm39)		probably null	Het
Dcaf17	A	T	2: 70,912,332 (GRCm39)	I320F	probably damaging	Het
Ddx10	T	C	9: 53,145,297 (GRCm39)	I227V	possibly damaging	Het
Dlc1	G	T	8: 37,405,302 (GRCm39)	N162K	probably benign	Het
Dnhd1	G	A	7: 105,317,670 (GRCm39)	R455H	probably benign	Het
Drg2	G	T	11: 60,355,679 (GRCm39)	A306S	probably benign	Het
Dsg1a	A	T	18: 20,465,076 (GRCm39)	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,766,452 (GRCm39)	V353A	probably damaging	Het
Emilin2	T	C	17: 71,617,756 (GRCm39)	S34G	probably benign	Het
Enpp2	C	A	15: 54,702,910 (GRCm39)	W862L	probably damaging	Het
Exoc2	T	C	13: 31,119,485 (GRCm39)	I139V	probably benign	Het
Fhad1	C	T	4: 141,691,936 (GRCm39)	R400H	probably benign	Het
Fv1	C	T	4: 147,954,595 (GRCm39)	T387M	probably damaging	Het
Gatad1	T	A	5: 3,693,701 (GRCm39)	D156V	probably damaging	Het
Gm4744	A	G	6: 40,927,367 (GRCm39)		probably benign	Het
Gm4799	G	A	10: 82,790,469 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,333,804 (GRCm39)	F405S	probably benign	Het
Ifit3	T	C	19: 34,565,651 (GRCm39)	V399A	probably benign	Het
Il1rapl1	G	T	X: 86,348,469 (GRCm39)	Y150*	probably null	Het
Kirrel1	T	C	3: 86,997,779 (GRCm39)	E248G	probably benign	Het
Krt72	C	A	15: 101,686,769 (GRCm39)	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,444,528 (GRCm39)	G309D	probably damaging	Het
Mc3r	T	G	2: 172,091,300 (GRCm39)	I174S	probably benign	Het
Me3	A	G	7: 89,282,273 (GRCm39)	D52G	probably benign	Het
Med12l	T	C	3: 59,168,256 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,325,378 (GRCm39)		probably null	Het
Mphosph10	A	T	7: 64,039,252 (GRCm39)	F239L	probably damaging	Het
Mrps7	T	C	11: 115,495,023 (GRCm39)	S13P	probably benign	Het
Nexn	T	C	3: 151,943,323 (GRCm39)	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,046,885 (GRCm39)	H1156Y	probably damaging	Het
Nostrin	A	G	2: 68,989,129 (GRCm39)	E120G	probably damaging	Het
Nsun2	A	G	13: 69,779,706 (GRCm39)	E624G	probably damaging	Het
Oga	T	C	19: 45,767,079 (GRCm39)	D99G	probably null	Het
Or4c102	G	A	2: 88,422,492 (GRCm39)	V115I	possibly damaging	Het
Or4k2	A	G	14: 50,424,539 (GRCm39)	I45T	probably damaging	Het
Or52n4b	G	A	7: 108,143,782 (GRCm39)	V15I	probably benign	Het
Or5p70	A	C	7: 107,995,289 (GRCm39)	K321Q	probably benign	Het
Phldb2	T	C	16: 45,598,146 (GRCm39)	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,789,796 (GRCm39)		probably null	Het
Pikfyve	T	A	1: 65,304,443 (GRCm39)	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,803,087 (GRCm39)	F393L	probably benign	Het
Plekhg1	C	A	10: 3,907,361 (GRCm39)	D759E	probably benign	Het
Plekhm1	A	G	11: 103,277,888 (GRCm39)	S403P	probably benign	Het
Pop1	T	C	15: 34,510,503 (GRCm39)	F432L	probably benign	Het
Ptpn13	T	C	5: 103,664,230 (GRCm39)	I406T	probably benign	Het
Ptpn5	G	T	7: 46,739,623 (GRCm39)	D185E	probably benign	Het
Rad50	G	T	11: 53,578,978 (GRCm39)	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,530,507 (GRCm39)	F613L	probably benign	Het
Sec16a	T	A	2: 26,330,057 (GRCm39)	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,712,920 (GRCm39)		probably null	Het
Slc22a3	G	A	17: 12,725,991 (GRCm39)	T74I	probably benign	Het
Slc23a4	A	G	6: 34,932,057 (GRCm39)	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,857,536 (GRCm39)	D869G	possibly damaging	Het
Slc5a11	T	A	7: 122,859,731 (GRCm39)	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,832,167 (GRCm39)	A470S	probably benign	Het
Slfn8	A	G	11: 82,894,006 (GRCm39)	S878P	probably damaging	Het
Smchd1	A	G	17: 71,672,089 (GRCm39)	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,220,437 (GRCm39)	L179P	probably damaging	Het
Tbx2	A	G	11: 85,725,622 (GRCm39)	D191G	probably damaging	Het
Tenm3	A	G	8: 48,796,351 (GRCm39)	Y485H	probably damaging	Het
Trim12c	T	A	7: 103,990,095 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,610,170 (GRCm39)	T213A	probably damaging	Het
Vmn1r46	A	T	6: 89,953,198 (GRCm39)	I16L	probably benign	Het
Vmn2r75	A	T	7: 85,814,850 (GRCm39)	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,118 (GRCm39)	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,582,521 (GRCm39)	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399 (GRCm39)	K232N	possibly damaging	Het
Zfp280b	T	C	10: 75,875,603 (GRCm39)	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,066,143 (GRCm39)	D38G	probably damaging	Het

Other mutations in Upp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Upp1	APN	11	9,086,100 (GRCm39)	makesense	probably null
IGL01870:Upp1	APN	11	9,075,700 (GRCm39)	critical splice donor site	probably null
IGL02125:Upp1	APN	11	9,075,650 (GRCm39)	utr 5 prime	probably benign
R0373:Upp1	UTSW	11	9,079,590 (GRCm39)	missense	probably benign	0.01
R1617:Upp1	UTSW	11	9,084,865 (GRCm39)	missense	probably damaging	0.99
R1980:Upp1	UTSW	11	9,084,872 (GRCm39)	missense	possibly damaging	0.67
R2018:Upp1	UTSW	11	9,083,240 (GRCm39)	missense	possibly damaging	0.94
R2019:Upp1	UTSW	11	9,083,240 (GRCm39)	missense	possibly damaging	0.94
R2214:Upp1	UTSW	11	9,086,033 (GRCm39)	missense	probably benign
R3425:Upp1	UTSW	11	9,075,700 (GRCm39)	critical splice donor site	probably null
R4063:Upp1	UTSW	11	9,081,709 (GRCm39)	missense	probably damaging	1.00
R4247:Upp1	UTSW	11	9,084,815 (GRCm39)	missense	probably benign
R4776:Upp1	UTSW	11	9,085,976 (GRCm39)	missense	probably damaging	0.98
R5160:Upp1	UTSW	11	9,085,193 (GRCm39)	missense	possibly damaging	0.68
R5500:Upp1	UTSW	11	9,081,774 (GRCm39)	missense	probably damaging	1.00
R5514:Upp1	UTSW	11	9,081,771 (GRCm39)	missense	probably damaging	1.00
R5677:Upp1	UTSW	11	9,086,025 (GRCm39)	missense	probably benign
R6825:Upp1	UTSW	11	9,081,707 (GRCm39)	missense	probably benign
R7325:Upp1	UTSW	11	9,084,743 (GRCm39)	missense	probably damaging	0.98
R8749:Upp1	UTSW	11	9,079,561 (GRCm39)	missense	probably damaging	1.00
R9257:Upp1	UTSW	11	9,075,661 (GRCm39)	missense	probably benign	0.00
R9633:Upp1	UTSW	11	9,084,909 (GRCm39)	missense
R9642:Upp1	UTSW	11	9,085,206 (GRCm39)	missense	probably benign	0.00
X0022:Upp1	UTSW	11	9,075,682 (GRCm39)	missense	possibly damaging	0.53
X0022:Upp1	UTSW	11	9,075,681 (GRCm39)	missense	probably benign	0.00
X0027:Upp1	UTSW	11	9,084,857 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCAGTGGCAATGCCCTGAAG -3'
(R):5'- TGAGCGATCCCTAGAGCAGACAATG -3'

Sequencing Primer
(F):5'- CAATGCCCTGAAGATAGAAATGTC -3'
(R):5'- CATGGGGAACTCATTCAGGTC -3'

Posted On

2014-04-13