Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Upf2'

34825

Institutional Source

Beutler Lab

Gene Symbol

Upf2

Ensembl Gene

ENSMUSG00000043241

Gene Name

UPF2 regulator of nonsense transcripts homolog (yeast)

Synonyms

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0265 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

5951469-6056703 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 6027204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060092]

AlphaFold

A2AT37

Predicted Effect

probably benign
Transcript: ENSMUST00000060092

SMART Domains

Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
low complexity region	54	125	N/A	INTRINSIC
MIF4G	167	363	1.22e-32	SMART
coiled coil region	514	543	N/A	INTRINSIC
MIF4G	567	756	1.13e-50	SMART
MIF4G	771	984	3.43e-50	SMART
low complexity region	1023	1042	N/A	INTRINSIC
Pfam:Upf2	1051	1215	1.5e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128200

SMART Domains

Protein: ENSMUSP00000119348
Gene: ENSMUSG00000043241

Domain	Start	End	E-Value	Type
MIF4G	27	240	3.43e-50	SMART
low complexity region	279	298	N/A	INTRINSIC
Pfam:Upf2	304	469	3.1e-44	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952		probably null	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Skor2	A	T	18: 76,876,598	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	probably damaging	Het

Other mutations in Upf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Upf2	APN	2	5961300	missense	unknown
IGL01394:Upf2	APN	2	6040213	splice site	probably null
IGL01571:Upf2	APN	2	6018939	unclassified	probably benign
IGL01624:Upf2	APN	2	6034179	missense	probably benign
IGL02121:Upf2	APN	2	6026323	splice site	probably benign
IGL02485:Upf2	APN	2	6027291	missense	unknown
IGL02491:Upf2	APN	2	6026164	missense	unknown
balderdash	UTSW	2	5973536	missense	unknown
nonsense	UTSW	2	6047034	missense	unknown
R0390:Upf2	UTSW	2	6018894	unclassified	probably benign
R0480:Upf2	UTSW	2	5957634	missense	possibly damaging	0.71
R0513:Upf2	UTSW	2	5957667	missense	unknown
R0579:Upf2	UTSW	2	5988429	missense	unknown
R0612:Upf2	UTSW	2	6034098	splice site	probably benign
R0856:Upf2	UTSW	2	5957652	missense	unknown
R1103:Upf2	UTSW	2	6026175	missense	unknown
R1384:Upf2	UTSW	2	5960989	missense	unknown
R1672:Upf2	UTSW	2	6040097	splice site	probably null
R1728:Upf2	UTSW	2	6027450	missense	probably damaging	1.00
R1784:Upf2	UTSW	2	6027450	missense	probably damaging	1.00
R1836:Upf2	UTSW	2	6050324	splice site	probably null
R2252:Upf2	UTSW	2	5961460	missense	unknown
R2339:Upf2	UTSW	2	6040102	splice site	probably benign
R3015:Upf2	UTSW	2	5976079	missense	unknown
R3931:Upf2	UTSW	2	6047010	missense	unknown
R4151:Upf2	UTSW	2	5961705	missense	unknown
R4283:Upf2	UTSW	2	5973558	missense	unknown
R4558:Upf2	UTSW	2	5973593	missense	unknown
R4564:Upf2	UTSW	2	6027312	missense	unknown
R5630:Upf2	UTSW	2	6027301	missense	probably damaging	0.99
R6370:Upf2	UTSW	2	5976010	missense	unknown
R6418:Upf2	UTSW	2	6027339	missense	unknown
R6432:Upf2	UTSW	2	5979777	missense	unknown
R7184:Upf2	UTSW	2	6023320	missense	unknown
R7308:Upf2	UTSW	2	5973518	missense	unknown
R7371:Upf2	UTSW	2	5961040	missense	unknown
R7404:Upf2	UTSW	2	6040203	missense	unknown
R7439:Upf2	UTSW	2	6018932	missense	unknown
R7441:Upf2	UTSW	2	6018932	missense	unknown
R7461:Upf2	UTSW	2	5973536	missense	unknown
R7483:Upf2	UTSW	2	6027408	missense	unknown
R7613:Upf2	UTSW	2	5973536	missense	unknown
R7976:Upf2	UTSW	2	6026115	missense	unknown
R8044:Upf2	UTSW	2	6029438	missense	unknown
R8516:Upf2	UTSW	2	6018971	missense	unknown
R8880:Upf2	UTSW	2	6026172	missense	unknown
R8911:Upf2	UTSW	2	5983082	missense	unknown
R9138:Upf2	UTSW	2	6023321	missense	unknown
R9226:Upf2	UTSW	2	6047034	missense	unknown
R9444:Upf2	UTSW	2	6018944	missense	unknown
R9484:Upf2	UTSW	2	5961267	missense	unknown
R9665:Upf2	UTSW	2	6046904	missense	unknown
R9691:Upf2	UTSW	2	6027213	missense	unknown
Z1176:Upf2	UTSW	2	6023388	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTGGGCTGATAGGAAGACTTACATTG -3'
(R):5'- CCATCAGGGTTGACACCAAATGAAGTA -3'

Sequencing Primer
(F):5'- ACCATTTCTTAGAAAATGACAGGC -3'
(R):5'- ACTACTGATACGCCTCTGGT -3'

Posted On

2013-05-09