Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Upp1'

568831

Institutional Source

Beutler Lab

Gene Symbol

Upp1

Ensembl Gene

ENSMUSG00000020407

Gene Name

uridine phosphorylase 1

Synonyms

UPase, Up, UdRPase

MMRRC Submission

045419-MU

Accession Numbers

Essential gene?

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

Stock #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9068103-9086170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9084743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 154 (V154A)

Ref Sequence

ENSEMBL: ENSMUSP00000020677 (fasta)

Gene Model

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

AlphaFold

P52624

Predicted Effect

probably damaging
Transcript: ENSMUST00000020677
AA Change: V154A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: V154A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000101525
AA Change: V154A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: V154A

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

probably damaging
Transcript: ENSMUST00000164791
AA Change: V154A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: V154A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166455
AA Change: V141A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129276
Gene: ENSMUSG00000020407
AA Change: V141A

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

Meta Mutation Damage Score

0.8314

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,571,711 (GRCm39)	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,869,917 (GRCm39)	T638A	probably benign	Het
Agtr1a	A	C	13: 30,565,890 (GRCm39)	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,777,294 (GRCm39)	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,559,637 (GRCm39)	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,620,599 (GRCm39)	L484P	possibly damaging	Het
Astn2	C	T	4: 65,460,906 (GRCm39)	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213 (GRCm39)	L290F	probably benign	Het
Boll	T	C	1: 55,343,757 (GRCm39)	Y222C	probably damaging	Het
Bphl	A	T	13: 34,234,324 (GRCm39)	I147F	possibly damaging	Het
Cadps2	T	G	6: 23,409,934 (GRCm39)	D766A	unknown	Het
Cd300lb	T	A	11: 114,815,858 (GRCm39)	K210M	probably damaging	Het
Cdan1	T	C	2: 120,555,185 (GRCm39)	Q797R	probably benign	Het
Celsr1	T	A	15: 85,917,209 (GRCm39)	S255C	probably damaging	Het
Cfap91	T	A	16: 38,141,963 (GRCm39)		probably null	Het
Cip2a	T	A	16: 48,826,184 (GRCm39)	M417K	probably benign	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Dennd5b	T	A	6: 148,922,068 (GRCm39)	K815N	probably benign	Het
Exd1	A	G	2: 119,350,620 (GRCm39)	V547A	probably benign	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,697,460 (GRCm39)		probably null	Het
Flg2	T	A	3: 93,110,679 (GRCm39)	N902K	unknown	Het
Fyttd1	T	A	16: 32,704,618 (GRCm39)	N76K	probably benign	Het
Gins1	T	A	2: 150,758,086 (GRCm39)	D57E	probably benign	Het
Gm5565	G	C	5: 146,095,171 (GRCm39)		probably null	Het
Gpsm2	T	C	3: 108,610,244 (GRCm39)	Y72C	probably damaging	Het
Hace1	C	A	10: 45,465,603 (GRCm39)	S53*	probably null	Het
Insig2	A	G	1: 121,234,666 (GRCm39)	V188A	possibly damaging	Het
Ism1	T	C	2: 139,598,963 (GRCm39)	V312A	probably damaging	Het
Jmy	A	T	13: 93,609,251 (GRCm39)	Y353N	probably damaging	Het
Maz	A	C	7: 126,624,725 (GRCm39)	V265G	probably benign	Het
Mtmr14	T	A	6: 113,246,509 (GRCm39)	I426N	probably damaging	Het
Or1e34	C	T	11: 73,779,101 (GRCm39)	M32I	probably benign	Het
Or5b113	A	G	19: 13,342,001 (GRCm39)	E3G	probably benign	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,413 (GRCm39)	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,476,440 (GRCm39)	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Podn	C	T	4: 107,874,899 (GRCm39)		probably null	Het
Prim1	A	G	10: 127,858,788 (GRCm39)	D232G	probably null	Het
Prrt1	T	A	17: 34,851,161 (GRCm39)	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,167,407 (GRCm39)	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,643,782 (GRCm39)	V53L	probably benign	Het
Shank2	C	A	7: 143,965,422 (GRCm39)	P1010Q	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,294,766 (GRCm39)	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,594,951 (GRCm39)	H154Y	probably benign	Het
Slco1a8	T	C	6: 141,934,951 (GRCm39)	K379E	probably damaging	Het
Slco2a1	T	A	9: 102,962,948 (GRCm39)		probably null	Het
Snapc3	T	C	4: 83,353,507 (GRCm39)	I182T	probably benign	Het
Taok2	A	G	7: 126,470,260 (GRCm39)	V856A	probably benign	Het
Tep1	T	A	14: 51,103,495 (GRCm39)	N265I	probably damaging	Het
Tespa1	A	T	10: 130,197,910 (GRCm39)	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,194,960 (GRCm39)	Q14*	probably null	Het
Trim33	T	C	3: 103,228,952 (GRCm39)	F353L	possibly damaging	Het
Usp34	T	C	11: 23,369,052 (GRCm39)	I1747T		Het
Vmn1r47	T	C	6: 89,999,254 (GRCm39)	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,524,249 (GRCm39)	Y81C	probably benign	Het
Ybx2	A	T	11: 69,831,181 (GRCm39)	T259S	probably benign	Het
Zfp536	T	C	7: 37,179,285 (GRCm39)	T1107A	probably benign	Het
Zfp583	C	T	7: 6,319,585 (GRCm39)	A476T	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
R1501:Upp1	UTSW	11	9,084,708 (GRCm39)	splice site	probably null
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
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'- AAAGGCTGCAGAGACTCTGG -3'
(R):5'- AAGGTGCACATGGTGTTGC -3'

Sequencing Primer
(F):5'- GGTCTGTACAAATTCCTACTCAGGG -3'
(R):5'- GAATCACCCGTTTTCCCA -3'

Posted On

2019-09-13