Mutagenetix > Incidental Mutations

Incidental Mutation 'R4296:Upp2'

323292

Institutional Source

Beutler Lab

Gene Symbol

Upp2

Ensembl Gene

ENSMUSG00000026839

Gene Name

uridine phosphorylase 2

Synonyms

UDRPASE2, UP2, UPASE2, 1700124F02Rik

MMRRC Submission

041656-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58567298-58792971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58778009 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 220 (Y220F)

Ref Sequence

ENSEMBL: ENSMUSP00000155044 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000059102
AA Change: Y238F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: Y238F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071543
AA Change: Y258F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
AA Change: Y258F

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

probably damaging
Transcript: ENSMUST00000102755
AA Change: Y220F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: Y220F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128864

Predicted Effect

probably damaging
Transcript: ENSMUST00000229923
AA Change: Y220F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230627
AA Change: Y186F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,823,074	G993C	probably damaging	Het
Abcc2	G	C	19: 43,823,075	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,668,310	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,522,777	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,544,963		probably null	Het
Aox1	T	A	1: 58,057,400		probably null	Het
Apbb1	G	T	7: 105,573,826	Q193K	probably benign	Het
Arl9	C	A	5: 77,006,549	N41K	probably damaging	Het
Armc1	A	G	3: 19,149,516	M82T	probably damaging	Het
Bms1	T	C	6: 118,404,999	E526G	probably damaging	Het
Cacna1a	C	T	8: 84,559,293	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,789,670	I84T	probably damaging	Het
Cgrrf1	T	C	14: 46,832,355	V27A	probably damaging	Het
Clec4f	G	A	6: 83,652,575	Q334*	probably null	Het
Cpeb3	C	T	19: 37,173,989	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,819,570		probably null	Het
Dip2b	A	T	15: 100,181,336	M810L	probably benign	Het
Eml3	T	C	19: 8,931,409	S158P	probably damaging	Het
Eps8l2	G	T	7: 141,358,262	E470*	probably null	Het
Flt3l	A	G	7: 45,134,004	F146S	probably damaging	Het
Glmn	A	T	5: 107,558,502	V419E	possibly damaging	Het
Gm11360	T	A	13: 27,956,312	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,587,459	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,712,755	M187K	possibly damaging	Het
Has3	T	C	8: 106,878,422	V420A	possibly damaging	Het
Huwe1	C	A	X: 151,888,448	T1012K	probably benign	Het
Iqcg	G	A	16: 33,016,975		probably benign	Het
Itga4	G	A	2: 79,272,799	G111R	probably damaging	Het
Keap1	A	G	9: 21,233,986	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,821,175		probably benign	Het
Lrrk2	A	G	15: 91,699,895	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,756,582		probably null	Het
Mbtps1	C	T	8: 119,522,499	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,507,337	I1688F	probably damaging	Het
Midn	C	T	10: 80,151,719	T21I	probably damaging	Het
Naf1	C	T	8: 66,889,462	P580S	possibly damaging	Het
Nlrp3	A	T	11: 59,549,661	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,639,648	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,398,984	T516A	probably damaging	Het
Oas1g	T	A	5: 120,879,167	T275S	probably damaging	Het
Ogdh	T	G	11: 6,349,374	F743V	probably damaging	Het
Olfr1109	T	C	2: 87,092,630	T256A	probably benign	Het
Olfr1505	A	G	19: 13,919,353	E111G	probably damaging	Het
Olfr192	G	A	16: 59,098,761	T77I	unknown	Het
Olfr790	C	A	10: 129,501,470	C195*	probably null	Het
Olfr811	C	A	10: 129,802,300	C75F	probably damaging	Het
Pdzd3	G	A	9: 44,248,861	R349C	probably benign	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472		probably benign	Het
Piezo1	T	A	8: 122,491,127	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,371,166	G20C	probably damaging	Het
Polq	A	G	16: 37,061,301	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,453,196	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,523,749	K800*	probably null	Het
Prkdc	T	A	16: 15,737,905	M2181K	probably damaging	Het
Pskh1	C	A	8: 105,912,904	A72E	probably benign	Het
Purg	T	C	8: 33,387,293	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 185,255,837		probably null	Het
Rnps1	T	A	17: 24,425,115		probably benign	Het
Scgb2b21	A	T	7: 33,519,808	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,525,075	I7N	probably benign	Het
Six4	A	G	12: 73,104,125	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,234,428	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,685,007	V734F	probably benign	Het
Stk4	T	A	2: 164,117,984	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,313,327	C79*	probably null	Het
Tgm3	G	T	2: 130,038,413	V380L	possibly damaging	Het
Tiam2	A	T	17: 3,450,845	M920L	probably benign	Het
Tjp1	T	C	7: 65,318,489	N729S	probably damaging	Het
Tlr12	A	G	4: 128,617,788	L223P	probably damaging	Het
Tmem268	T	C	4: 63,565,768		probably null	Het
Tmpo	A	T	10: 91,162,956	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,598,629	S302G	probably benign	Het
Trip11	C	A	12: 101,885,868	E361*	probably null	Het
Tspyl3	T	A	2: 153,225,156	N54I	possibly damaging	Het
Usp22	G	T	11: 61,161,464		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,973,931		probably benign	Het
Vmn1r235	G	T	17: 21,262,300	G296W	probably damaging	Het
Vmn1r89	T	C	7: 13,220,186	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,865,648	E80V	probably damaging	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
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
R7727:Upp2	UTSW	2	58774148	missense	possibly damaging	0.95
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
Z1177:Upp2	UTSW	2	58780062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGGCTCCGTTGTAATAAC -3'
(R):5'- AAAGTCACTCTGCATGTTTCTCAG -3'

Sequencing Primer
(F):5'- GGCTCCGTTGTAATAACAGATACAGC -3'
(R):5'- GCATGTTTCTCAGCTGCTTATTAAG -3'

Posted On

2015-06-20