Mutagenetix > Incidental Mutation

Incidental Mutation 'R2019:Upp1'

223668

Institutional Source

Beutler Lab

Gene Symbol

Upp1

Ensembl Gene

ENSMUSG00000020407

Gene Name

uridine phosphorylase 1

Synonyms

UPase, Up, UdRPase

MMRRC Submission

040028-MU

Accession Numbers

Essential gene?

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

Stock #

R2019 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

9068103-9086170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9083240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 111 (M111L)

Ref Sequence

ENSEMBL: ENSMUSP00000127473 (fasta)

Gene Model

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

AlphaFold

P52624

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020677
AA Change: M111L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: M111L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101525
AA Change: M111L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: M111L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130522
AA Change: M111L

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123285
Gene: ENSMUSG00000020407
AA Change: M111L

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

possibly damaging
Transcript: ENSMUST00000164791
AA Change: M111L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: M111L

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

Predicted Effect

unknown
Transcript: ENSMUST00000166455
AA Change: M98L

SMART Domains

Protein: ENSMUSP00000129276
Gene: ENSMUSG00000020407
AA Change: M98L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170444
AA Change: M111L

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407
AA Change: M111L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172452
AA Change: M111L

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129787
Gene: ENSMUSG00000020407
AA Change: M111L

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

0.2841

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,293,899 (GRCm39)	F252L	possibly damaging	Het
Abcc9	G	A	6: 142,621,160 (GRCm39)	L527F	probably damaging	Het
Abi3bp	A	G	16: 56,498,159 (GRCm39)	T918A	probably damaging	Het
Acp3	C	T	9: 104,201,901 (GRCm39)	G81R	probably damaging	Het
Acss3	C	T	10: 106,772,068 (GRCm39)	S669N	probably benign	Het
Akt1	T	C	12: 112,626,059 (GRCm39)	N71S	probably damaging	Het
Amz1	G	T	5: 140,737,719 (GRCm39)	M326I	probably benign	Het
Ankrd36	A	G	11: 5,639,140 (GRCm39)	I1351V	probably benign	Het
Art2b	T	C	7: 101,229,194 (GRCm39)	D235G	probably benign	Het
Ccdc141	A	C	2: 76,841,909 (GRCm39)	I1507M	probably damaging	Het
Dck	A	G	5: 88,921,943 (GRCm39)	Y135C	probably damaging	Het
Dmbt1	T	G	7: 130,712,718 (GRCm39)	I1563S	possibly damaging	Het
Dnttip2	T	C	3: 122,074,393 (GRCm39)	V610A	possibly damaging	Het
Efhb	A	G	17: 53,708,505 (GRCm39)	S722P	probably damaging	Het
Emx2	A	G	19: 59,447,771 (GRCm39)	S42G	probably benign	Het
Ermard	C	T	17: 15,273,527 (GRCm39)	R371C	probably damaging	Het
Fat1	T	G	8: 45,476,783 (GRCm39)	I1943S	probably damaging	Het
Fignl1	T	C	11: 11,752,054 (GRCm39)	K334E	probably damaging	Het
Fmn1	A	C	2: 113,194,825 (GRCm39)	K175T	unknown	Het
Gm7247	A	T	14: 51,602,804 (GRCm39)	M47L	possibly damaging	Het
Gpalpp1	A	T	14: 76,348,131 (GRCm39)		probably null	Het
Hc	A	C	2: 34,903,540 (GRCm39)	F1038C	probably damaging	Het
Ifngr1	A	T	10: 19,467,861 (GRCm39)	M10L	probably damaging	Het
Irx5	T	G	8: 93,084,992 (GRCm39)	Y61D	probably damaging	Het
Itgax	A	G	7: 127,747,698 (GRCm39)	H1038R	probably benign	Het
Jag1	C	T	2: 136,926,599 (GRCm39)	E982K	probably benign	Het
Klhdc9	T	C	1: 171,186,509 (GRCm39)	D309G	probably damaging	Het
Lamp3	A	T	16: 19,519,961 (GRCm39)	M74K	probably benign	Het
Lrpprc	A	T	17: 85,059,759 (GRCm39)	L685Q	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mgat5b	A	G	11: 116,838,174 (GRCm39)	Y271C	probably benign	Het
Mtmr6	T	C	14: 60,536,441 (GRCm39)	M557T	probably benign	Het
Myo16	T	C	8: 10,426,260 (GRCm39)	L339P	probably benign	Het
Neb	G	T	2: 52,122,288 (GRCm39)	Y580*	probably null	Het
Npat	A	G	9: 53,473,791 (GRCm39)	K528E	probably benign	Het
Or1j4	A	T	2: 36,740,418 (GRCm39)	Y120F	possibly damaging	Het
Or4a72	A	G	2: 89,405,737 (GRCm39)	V111A	probably damaging	Het
Or5m3	A	T	2: 85,838,567 (GRCm39)	Y149F	probably damaging	Het
Parp8	G	A	13: 117,004,968 (GRCm39)		probably benign	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Phospho1	G	A	11: 95,721,932 (GRCm39)	V201M	probably damaging	Het
Piezo1	A	G	8: 123,209,451 (GRCm39)	F2371L	probably benign	Het
Pitpnm1	T	C	19: 4,163,641 (GRCm39)	S1209P	probably damaging	Het
Pkd1	T	A	17: 24,787,658 (GRCm39)	C20*	probably null	Het
Prdm5	C	A	6: 65,808,340 (GRCm39)	N95K	probably damaging	Het
Prkx	T	C	X: 76,809,010 (GRCm39)	D270G	probably damaging	Het
Ptgis	A	G	2: 167,050,199 (GRCm39)	V310A	probably damaging	Het
Ptgis	G	A	2: 167,056,730 (GRCm39)	Q286*	probably null	Het
Rpf1	T	A	3: 146,226,976 (GRCm39)	N59I	probably damaging	Het
Rpl3l	A	C	17: 24,954,490 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,866,074 (GRCm39)	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,611,410 (GRCm39)	N2257K	probably benign	Het
Sla	T	C	15: 66,654,404 (GRCm39)	Y278C	probably damaging	Het
Slc4a10	A	T	2: 62,064,725 (GRCm39)	D193V	probably damaging	Het
Spire2	T	C	8: 124,059,657 (GRCm39)	C52R	probably damaging	Het
Tada2b	T	C	5: 36,641,250 (GRCm39)	Y51C	probably damaging	Het
Tarbp1	C	T	8: 127,154,853 (GRCm39)	V1424I	probably damaging	Het
Tbpl1	T	A	10: 22,583,576 (GRCm39)	E131D	probably damaging	Het
Tgfbrap1	A	G	1: 43,093,677 (GRCm39)		probably null	Het
Tmem116	A	G	5: 121,627,317 (GRCm39)	I151M	possibly damaging	Het
Tmem30a	T	C	9: 79,681,500 (GRCm39)	D223G	probably damaging	Het
Trim13	T	A	14: 61,842,335 (GRCm39)	C117*	probably null	Het
Ttn	C	G	2: 76,585,676 (GRCm39)	D21987H	probably damaging	Het
Txnrd1	G	A	10: 82,713,207 (GRCm39)	V90I	probably benign	Het
Unc79	G	A	12: 103,137,830 (GRCm39)		probably null	Het
Vmn2r79	G	T	7: 86,651,634 (GRCm39)	L344F	probably benign	Het
Vps39	T	C	2: 120,173,708 (GRCm39)	Y147C	probably damaging	Het
Wdr59	A	G	8: 112,193,425 (GRCm39)	Y666H	probably damaging	Het
Wdr95	A	G	5: 149,497,613 (GRCm39)		probably benign	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
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'- TGGCAATAATGACTGACAAAGC -3'
(R):5'- TATGTGTTCACACCTTGCTGG -3'

Sequencing Primer
(F):5'- TGACTGACAAAGCAGAGTAATTTG -3'
(R):5'- ACCTTGCTGGACCTAGTACTGG -3'

Posted On

2014-08-25