Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Upp2'

595539

Institutional Source

Beutler Lab

Gene Symbol

Upp2

Ensembl Gene

ENSMUSG00000026839

Gene Name

uridine phosphorylase 2

Synonyms

UDRPASE2, UP2, UPASE2, 1700124F02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58567298-58792971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58774148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 142 (M142I)

Ref Sequence

ENSEMBL: ENSMUSP00000060437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059102] [ENSMUST00000071543] [ENSMUST00000102755] [ENSMUST00000229923] [ENSMUST00000230627]

AlphaFold

Q8CGR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059102
AA Change: M142I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: M142I

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	78	328	6.4e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071543
AA Change: M162I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
AA Change: M162I

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:PNP_UDP_1	98	316	7.1e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102755
AA Change: M124I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: M124I

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	60	310	4.2e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000229923
AA Change: M124I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230627
AA Change: M90I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Upp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Upp2	APN	2	58790064	missense	probably benign	0.43
IGL01716:Upp2	APN	2	58790046	missense	probably damaging	0.99
IGL02069:Upp2	APN	2	58771417	splice site	probably benign
IGL02349:Upp2	APN	2	58777886	missense	probably benign	0.03
IGL03072:Upp2	APN	2	58755423	critical splice donor site	probably null
R0815:Upp2	UTSW	2	58771556	missense	probably benign	0.00
R1164:Upp2	UTSW	2	58763704	missense	probably damaging	1.00
R1400:Upp2	UTSW	2	58790106	missense	probably damaging	1.00
R1553:Upp2	UTSW	2	58790140	missense	probably damaging	1.00
R1581:Upp2	UTSW	2	58774165	missense	possibly damaging	0.93
R1674:Upp2	UTSW	2	58790064	missense	probably benign	0.43
R1702:Upp2	UTSW	2	58771550	missense	possibly damaging	0.86
R1902:Upp2	UTSW	2	58771452	missense	probably damaging	1.00
R2351:Upp2	UTSW	2	58763662	splice site	probably null
R3011:Upp2	UTSW	2	58790095	missense	probably damaging	0.97
R3622:Upp2	UTSW	2	58790116	missense	possibly damaging	0.83
R3623:Upp2	UTSW	2	58790116	missense	possibly damaging	0.83
R3731:Upp2	UTSW	2	58755367	missense	probably benign	0.02
R4257:Upp2	UTSW	2	58780094	missense	probably damaging	1.00
R4296:Upp2	UTSW	2	58778009	missense	probably damaging	1.00
R4768:Upp2	UTSW	2	58777895	missense	probably damaging	0.99
R5116:Upp2	UTSW	2	58771542	missense	probably damaging	1.00
R5638:Upp2	UTSW	2	58790095	missense	probably damaging	0.97
R7100:Upp2	UTSW	2	58791805	missense	probably benign
R7421:Upp2	UTSW	2	58771574	missense	possibly damaging	0.49
R7840:Upp2	UTSW	2	58774115	critical splice acceptor site	probably null
R8033:Upp2	UTSW	2	58780059	missense	probably damaging	1.00
R8359:Upp2	UTSW	2	58777943	missense	probably benign	0.05
R8461:Upp2	UTSW	2	58780056	missense	probably benign	0.02
R8510:Upp2	UTSW	2	58780106	missense	probably damaging	1.00
R8956:Upp2	UTSW	2	58567442	unclassified	probably benign
R9086:Upp2	UTSW	2	58790165	nonsense	probably null
R9099:Upp2	UTSW	2	58567530	critical splice donor site	probably null
R9130:Upp2	UTSW	2	58778008	missense	probably damaging	1.00
R9159:Upp2	UTSW	2	58777984	missense	probably damaging	1.00
R9209:Upp2	UTSW	2	58778010	nonsense	probably null
R9215:Upp2	UTSW	2	58780053	missense	probably damaging	1.00
R9293:Upp2	UTSW	2	58567431	missense	unknown
R9343:Upp2	UTSW	2	58755327	start gained	probably benign
Z1177:Upp2	UTSW	2	58780062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTACGTTTTCCCAAGCGTTG -3'
(R):5'- TTAAATGCCCAAGCGCCAG -3'

Sequencing Primer
(F):5'- CCAAGCGTTGGCACAGTCTTAATG -3'
(R):5'- AGTACTTTGTAGCCCATCTGG -3'

Posted On

2019-11-12