Mutagenetix > Incidental Mutation

Incidental Mutation 'R6825:Upp1'

534115

Institutional Source

Beutler Lab

Gene Symbol

Upp1

Ensembl Gene

ENSMUSG00000020407

Gene Name

uridine phosphorylase 1

Synonyms

UPase, Up, UdRPase

MMRRC Submission

044937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R6825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9068103-9086170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9081707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 81 (H81Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129787 (fasta)

Gene Model

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

AlphaFold

P52624

Predicted Effect

probably benign
Transcript: ENSMUST00000020677
AA Change: H81Q

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

SMART Domains

Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: H81Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000101525
AA Change: H81Q

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

SMART Domains

Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: H81Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130522
AA Change: H81Q

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

SMART Domains

Protein: ENSMUSP00000123285
Gene: ENSMUSG00000020407
AA Change: H81Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164791
AA Change: H81Q

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

SMART Domains

Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: H81Q

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000129276
Gene: ENSMUSG00000020407
AA Change: H70Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170444
AA Change: H81Q

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

SMART Domains

Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407
AA Change: H81Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172452
AA Change: H81Q

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

SMART Domains

Protein: ENSMUSP00000129787
Gene: ENSMUSG00000020407
AA Change: H81Q

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,954,654 (GRCm39)	S206T	probably benign	Het
Aasdh	A	T	5: 77,036,696 (GRCm39)		probably null	Het
Adam10	G	T	9: 70,668,884 (GRCm39)	C400F	probably damaging	Het
Ankle2	A	T	5: 110,398,635 (GRCm39)	R561S	probably null	Het
Arhgef5	C	T	6: 43,251,895 (GRCm39)	T882I	probably damaging	Het
Arpc1a	A	T	5: 145,032,936 (GRCm39)	K82*	probably null	Het
Card11	C	A	5: 140,863,837 (GRCm39)	R967L	probably benign	Het
Ccdc82	G	T	9: 13,251,601 (GRCm39)		probably benign	Het
Cebpz	T	C	17: 79,227,392 (GRCm39)	D1026G	probably damaging	Het
Cit	A	T	5: 116,119,833 (GRCm39)	Q1321L	probably damaging	Het
Clcn2	C	A	16: 20,528,408 (GRCm39)		probably benign	Het
Csf3	G	C	11: 98,593,273 (GRCm39)	G130A	probably damaging	Het
Cul2	T	A	18: 3,434,946 (GRCm39)	S737T	probably damaging	Het
Cyp1a2	G	A	9: 57,584,543 (GRCm39)	H504Y	probably benign	Het
Cyp3a44	G	A	5: 145,716,396 (GRCm39)	P398L	probably damaging	Het
Dnah8	T	C	17: 30,960,147 (GRCm39)	I2206T	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Epb41l5	A	T	1: 119,547,931 (GRCm39)	D157E	possibly damaging	Het
Ercc8	T	C	13: 108,295,343 (GRCm39)	S6P	probably damaging	Het
Faxc	T	C	4: 21,931,672 (GRCm39)	S37P	probably benign	Het
Fbxl19	T	A	7: 127,349,187 (GRCm39)	I119K	probably damaging	Het
Frmd4b	A	G	6: 97,302,437 (GRCm39)	V195A	possibly damaging	Het
Fut9	A	T	4: 25,619,925 (GRCm39)	S296R	probably benign	Het
Gas6	T	C	8: 13,533,674 (GRCm39)	N112D	probably benign	Het
H2-Q1	T	C	17: 35,540,028 (GRCm39)	L99P	probably damaging	Het
Helq	A	T	5: 100,940,561 (GRCm39)	I346N	probably damaging	Het
Hepacam	A	G	9: 37,278,976 (GRCm39)	K2E	possibly damaging	Het
Itgae	T	C	11: 73,009,322 (GRCm39)	M502T	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,277,015 (GRCm39)		probably null	Het
Mgat4a	T	A	1: 37,503,515 (GRCm39)	K220*	probably null	Het
Or2t43	T	C	11: 58,457,476 (GRCm39)	R232G	possibly damaging	Het
Or4c104	T	C	2: 88,586,255 (GRCm39)	I255V	possibly damaging	Het
Or5b3	G	A	19: 13,388,514 (GRCm39)	V194I	probably benign	Het
Pex5	A	T	6: 124,391,340 (GRCm39)	M18K	probably damaging	Het
Phlda3	T	C	1: 135,694,562 (GRCm39)	*126Q	probably null	Het
Plxna1	G	T	6: 89,297,597 (GRCm39)	D1862E	probably benign	Het
Pold4	A	T	19: 4,282,164 (GRCm39)	I7F	possibly damaging	Het
Prkaa1	A	T	15: 5,173,432 (GRCm39)	I19F	possibly damaging	Het
Prl7d1	T	G	13: 27,894,125 (GRCm39)	E148A	probably benign	Het
Prr14l	A	T	5: 32,985,892 (GRCm39)	V1201E	possibly damaging	Het
Rab3gap1	T	C	1: 127,858,158 (GRCm39)	C510R	probably damaging	Het
Rhbdf1	C	T	11: 32,159,970 (GRCm39)	R802H	probably damaging	Het
Rpl18a	A	C	8: 71,348,836 (GRCm39)	F47V	probably damaging	Het
Sema5b	C	A	16: 35,448,377 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,442,459 (GRCm39)	G1985R	probably benign	Het
Tcaf2	C	T	6: 42,606,452 (GRCm39)	A501T	probably benign	Het
Tcerg1	A	G	18: 42,681,542 (GRCm39)	D563G	probably damaging	Het
Tdh	G	A	14: 63,733,281 (GRCm39)	T155M	probably damaging	Het
Tenm2	T	C	11: 35,937,711 (GRCm39)	N1654S	probably benign	Het
Tlr5	A	T	1: 182,800,609 (GRCm39)		probably benign	Het
Tns1	G	T	1: 74,041,482 (GRCm39)	C136*	probably null	Het
Tomm5	A	T	4: 45,106,443 (GRCm39)		probably null	Het
Trio	A	T	15: 27,889,394 (GRCm39)	F512I	probably damaging	Het
Ttll5	A	T	12: 85,930,102 (GRCm39)		probably null	Het
Usp42	A	G	5: 143,713,562 (GRCm39)	S71P	probably damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Zap70	A	G	1: 36,817,471 (GRCm39)	Y238C	probably damaging	Het
Zfp398	A	G	6: 47,843,265 (GRCm39)	D307G	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
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'- CCCTTCAGATACACCTGGTAC -3'
(R):5'- AAACACTAGGGTGCCAGCTG -3'

Sequencing Primer
(F):5'- GAAAACTTGCTAGGAAGTTCCC -3'
(R):5'- GTTCAGCTGTTCCCATATGCAAAAG -3'

Posted On

2018-09-12