Mutagenetix > Incidental Mutations

Incidental Mutation 'R5677:Upp1'

442821

Institutional Source

Beutler Lab

Gene Symbol

Upp1

Ensembl Gene

ENSMUSG00000020407

Gene Name

uridine phosphorylase 1

Synonyms

UPase, UdRPase, Up

MMRRC Submission

043316-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R5677 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9118103-9136170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9136025 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 287 (D287E)

Ref Sequence

ENSEMBL: ENSMUSP00000127473 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020677
AA Change: D287E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: D287E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000101525
AA Change: D287E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: D287E

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 benign
Transcript: ENSMUST00000164791
AA Change: D287E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: D287E

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

Predicted Effect

probably benign
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 benign
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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,986,229	V22I	probably benign	Het
4930430A15Rik	T	C	2: 111,211,565	T342A	probably benign	Het
4931423N10Rik	T	A	2: 23,212,718	L156Q	probably damaging	Het
Abca8a	A	T	11: 110,038,399	V1296D	possibly damaging	Het
Abca8b	C	T	11: 109,940,861	S1328N	probably damaging	Het
Adcy1	G	A	11: 7,161,914	M926I	probably damaging	Het
Aff4	G	T	11: 53,400,275	M687I	possibly damaging	Het
Agbl2	T	A	2: 90,807,978	Y636N	possibly damaging	Het
Agtr1a	A	T	13: 30,381,584	I211F	probably damaging	Het
Alkbh8	T	G	9: 3,385,147	S480A	possibly damaging	Het
Ankrd13b	A	T	11: 77,477,544	V84E	probably damaging	Het
Ap3b1	C	T	13: 94,528,196	T881I	unknown	Het
Apbb1	A	C	7: 105,559,246	D617E	probably damaging	Het
Apobec4	A	G	1: 152,757,282	R354G	probably benign	Het
BC003331	G	A	1: 150,374,837	L319F	probably damaging	Het
Brdt	T	G	5: 107,348,617	C198W	possibly damaging	Het
Cacna1b	G	T	2: 24,679,358	H851Q	possibly damaging	Het
Car2	G	T	3: 14,898,055	V217F	possibly damaging	Het
Ccdc24	A	C	4: 117,869,880		probably benign	Het
Chodl	C	A	16: 78,941,315	A57E	probably damaging	Het
Clgn	G	T	8: 83,409,538	C185F	probably damaging	Het
Cltc	G	T	11: 86,705,242	N1223K	probably damaging	Het
Cnot10	T	C	9: 114,629,093	N115S	probably damaging	Het
Col12a1	T	C	9: 79,699,321	R607G	probably damaging	Het
Cpd	A	G	11: 76,799,825	V835A	probably benign	Het
Csmd3	G	C	15: 48,622,051	L153V	probably damaging	Het
Ctr9	A	G	7: 111,044,002	H527R	probably benign	Het
Cwc22	G	A	2: 77,929,443	R87W	probably damaging	Het
D930020B18Rik	T	A	10: 121,669,201	N107K	probably benign	Het
Dgkg	C	A	16: 22,570,171	V418L	probably benign	Het
Dhx40	A	G	11: 86,800,963		probably null	Het
Diaph1	A	T	18: 37,855,951	M910K	probably damaging	Het
Diras2	T	A	13: 52,507,675	M199L	possibly damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock5	T	A	14: 67,777,603	Q1302H	probably benign	Het
Dync1i2	T	C	2: 71,228,623	S90P	probably benign	Het
E2f8	A	T	7: 48,867,195	V812E	probably damaging	Het
Egfem1	C	A	3: 29,690,174	Q521K	probably damaging	Het
Fbxl18	A	T	5: 142,878,720	C699*	probably null	Het
Fgf3	C	T	7: 144,838,783	R26*	probably null	Het
Fpr-rs7	T	G	17: 20,114,103	I42L	probably benign	Het
Gm13101	A	T	4: 143,965,138	D338E	possibly damaging	Het
Gm3159	T	A	14: 4,398,582	M91K	probably damaging	Het
Gprin3	A	G	6: 59,353,892	S477P	possibly damaging	Het
Grm8	A	T	6: 27,761,204		probably null	Het
Hepacam2	A	T	6: 3,466,142	D420E	probably damaging	Het
Hmcn1	A	T	1: 150,609,778	W4358R	probably benign	Het
Ifna6	G	A	4: 88,827,719	A102T	probably benign	Het
Ighv2-2	T	C	12: 113,588,522	Q32R	probably benign	Het
Igkv1-131	T	A	6: 67,766,258	Q47L	possibly damaging	Het
Il16	T	C	7: 83,674,553	E263G	probably damaging	Het
Kansl1	A	T	11: 104,335,148	C981S	probably benign	Het
Lrp1	A	T	10: 127,574,429	F1483I	probably damaging	Het
Ltf	T	C	9: 111,020,912	M1T	probably null	Het
Ly75	C	T	2: 60,299,082	R1653H	probably benign	Het
Macrod2	T	C	2: 142,176,667	F240S	probably damaging	Het
Man1c1	T	C	4: 134,569,060	E433G	probably damaging	Het
Mansc4	A	T	6: 147,081,549	M130K	probably benign	Het
Mccc1	C	T	3: 35,990,048		probably null	Het
Mink1	G	T	11: 70,605,165	R75L	possibly damaging	Het
Mst1	A	G	9: 108,081,286	D65G	probably damaging	Het
Myo9b	C	T	8: 71,343,686	A857V	probably damaging	Het
Ndufa4	A	G	6: 11,900,575	V70A	probably benign	Het
Npat	T	A	9: 53,555,100	S230T	probably benign	Het
Nr1d1	A	G	11: 98,771,308	Y167H	probably damaging	Het
Oca2	A	G	7: 56,414,462	D735G	probably damaging	Het
Olfr13	T	C	6: 43,174,331	V115A	probably benign	Het
Olfr1359	C	T	13: 21,703,223	T74I	probably benign	Het
Olfr1383	A	G	11: 49,523,944	T74A	probably damaging	Het
Olfr835	T	A	9: 19,035,558	I145N	possibly damaging	Het
Otop1	A	G	5: 38,300,163	Y422C	probably damaging	Het
Pde4dip	G	A	3: 97,841,648	R126*	probably null	Het
Pdp2	C	T	8: 104,594,688	P390S	probably damaging	Het
Pds5b	A	T	5: 150,716,461	T14S	possibly damaging	Het
Pfkp	T	C	13: 6,588,595	E580G	probably damaging	Het
Piezo2	A	T	18: 63,117,696	L212Q	possibly damaging	Het
Piezo2	G	C	18: 63,117,697	L444V	probably benign	Het
Pla2g4d	T	A	2: 120,278,948	T207S	possibly damaging	Het
Plk2	C	A	13: 110,399,057	T471K	possibly damaging	Het
Ppp1r3g	G	A	13: 35,969,262	E222K	probably damaging	Het
Prkcg	A	G	7: 3,323,458	D480G	probably damaging	Het
Pxdc1	T	A	13: 34,652,195	T81S	probably benign	Het
Rnf150	A	T	8: 83,003,599	K253*	probably null	Het
Rsg1	C	T	4: 141,219,866	P186L	probably benign	Het
Sae1	T	C	7: 16,370,462		probably null	Het
Scin	C	T	12: 40,063,259	D538N	probably damaging	Het
Serpinb3c	C	A	1: 107,271,803	K329N	probably damaging	Het
Sgo2b	T	A	8: 63,926,974	K941N	possibly damaging	Het
Six1	C	T	12: 73,046,284	S48N	possibly damaging	Het
Slc39a8	G	A	3: 135,884,688	G381R	probably damaging	Het
Slc9b1	A	G	3: 135,357,559	K35E	unknown	Het
Srek1	C	T	13: 103,759,244	A274T	probably damaging	Het
Steap2	A	T	5: 5,677,497	Y279*	probably null	Het
Svil	T	A	18: 5,046,823	L110*	probably null	Het
Syncrip	T	C	9: 88,456,709		probably benign	Het
Tcf20	A	G	15: 82,853,242	I1336T	probably benign	Het
Tecpr1	T	A	5: 144,218,633	K36*	probably null	Het
Tenm2	A	G	11: 36,141,683	V670A	probably damaging	Het
Thbd	G	A	2: 148,407,366	T194I	probably damaging	Het
Tm9sf2	A	T	14: 122,151,962		probably null	Het
Tmtc4	A	T	14: 122,950,499	I225N	probably damaging	Het
Tpp1	C	T	7: 105,747,536	V425M	probably damaging	Het
Trbc2	T	A	6: 41,547,812	Y144*	probably null	Het
Trps1	T	C	15: 50,846,108	D282G	probably damaging	Het
Tsc22d4	T	A	5: 137,747,142	S9R	probably damaging	Het
Uso1	A	C	5: 92,201,299	Q916H	probably damaging	Het
Uty	T	A	Y: 1,134,902	Y884F	probably damaging	Het
Vmn1r222	T	C	13: 23,232,780	R88G	probably damaging	Het
Vmn1r79	T	C	7: 12,177,001	V270A	possibly damaging	Het
Zbtb22	T	C	17: 33,917,735	S285P	probably benign	Het
Zfp385a	A	G	15: 103,318,065	V82A	probably damaging	Het
Zfp59	T	C	7: 27,854,169	F349L	probably benign	Het
Zfp780b	T	G	7: 27,962,799	H777P	probably benign	Het
Zfp82	T	C	7: 30,057,124	T178A	probably benign	Het
Zfp850	T	C	7: 27,989,088	Y565C	probably damaging	Het
Zfp957	A	G	14: 79,212,767	Y531H	probably damaging	Het

Other mutations in Upp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Upp1	APN	11	9136100	makesense	probably null
IGL01870:Upp1	APN	11	9125700	critical splice donor site	probably null
IGL02125:Upp1	APN	11	9125650	utr 5 prime	probably benign
R0373:Upp1	UTSW	11	9129590	missense	probably benign	0.01
R1501:Upp1	UTSW	11	9134708	splice site	probably null
R1617:Upp1	UTSW	11	9134865	missense	probably damaging	0.99
R1980:Upp1	UTSW	11	9134872	missense	possibly damaging	0.67
R2018:Upp1	UTSW	11	9133240	missense	possibly damaging	0.94
R2019:Upp1	UTSW	11	9133240	missense	possibly damaging	0.94
R2214:Upp1	UTSW	11	9136033	missense	probably benign
R3425:Upp1	UTSW	11	9125700	critical splice donor site	probably null
R4063:Upp1	UTSW	11	9131709	missense	probably damaging	1.00
R4247:Upp1	UTSW	11	9134815	missense	probably benign
R4776:Upp1	UTSW	11	9135976	missense	probably damaging	0.98
R5160:Upp1	UTSW	11	9135193	missense	possibly damaging	0.68
R5500:Upp1	UTSW	11	9131774	missense	probably damaging	1.00
R5514:Upp1	UTSW	11	9131771	missense	probably damaging	1.00
R6825:Upp1	UTSW	11	9131707	missense	probably benign
R7325:Upp1	UTSW	11	9134743	missense	probably damaging	0.98
X0022:Upp1	UTSW	11	9125681	missense	probably benign	0.00
X0022:Upp1	UTSW	11	9125682	missense	possibly damaging	0.53
X0027:Upp1	UTSW	11	9134857	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTTTCCCGAGGTATTGCAG -3'
(R):5'- GAACAATCTGTGTGTCTAACTCG -3'

Sequencing Primer
(F):5'- ATTGCAGGCTGATCCTCAG -3'
(R):5'- ACTCGGATTTCTAACTGGCAG -3'

Posted On

2016-11-09