Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Upf2'

65411

Institutional Source

Beutler Lab

Gene Symbol

Upf2

Ensembl Gene

ENSMUSG00000043241

Gene Name

UPF2 regulator of nonsense transcripts homolog (yeast)

Synonyms

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0390 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

5951469-6056703 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 6018894 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: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	T	A	18: 59,075,688	V136E	probably damaging	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ap2m1	T	C	16: 20,541,099	M183T	probably damaging	Het
Apob	A	T	12: 7,988,678	I364F	probably damaging	Het
Arl6	A	T	16: 59,622,421		probably benign	Het
Cand2	A	G	6: 115,774,653	M15V	possibly damaging	Het
Cbl	A	G	9: 44,201,005	F131S	probably damaging	Het
Ccdc151	T	A	9: 21,991,708	H442L	probably benign	Het
Ccdc74a	A	G	16: 17,650,476	S321G	probably benign	Het
Cdc14b	T	C	13: 64,210,192		probably benign	Het
Cep152	T	C	2: 125,576,869		probably benign	Het
Cep290	A	G	10: 100,508,758	E479G	probably benign	Het
Chrm2	T	G	6: 36,524,111	I301R	probably benign	Het
Clec2e	A	G	6: 129,093,468	W197R	probably damaging	Het
Cnot10	G	T	9: 114,629,150	S96*	probably null	Het
Col19a1	A	G	1: 24,289,655		probably benign	Het
Csmd2	T	C	4: 128,133,673		probably benign	Het
Cthrc1	A	T	15: 39,086,764	*172L	probably null	Het
Cul9	A	T	17: 46,528,589	I821N	probably benign	Het
Daam1	G	C	12: 71,975,304		probably benign	Het
Dhx58	A	T	11: 100,699,264	I398N	probably damaging	Het
Dip2b	T	A	15: 100,193,913	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,621,029	D50G	probably damaging	Het
Dmxl1	C	A	18: 49,879,362	Q1529K	probably benign	Het
Dtna	C	T	18: 23,597,501	P315L	probably damaging	Het
Ep300	T	C	15: 81,640,116	S1382P	unknown	Het
Fat2	A	T	11: 55,310,777	N490K	probably damaging	Het
Flg2	T	A	3: 93,200,355		probably benign	Het
Gm13084	T	A	4: 143,811,699	D234V	probably benign	Het
Gpatch1	T	C	7: 35,281,381		probably benign	Het
Grin2a	C	A	16: 9,579,585	K879N	possibly damaging	Het
Hacd3	A	C	9: 65,001,022	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,298,948	C197G	probably damaging	Het
Hsd17b12	T	C	2: 94,114,990		probably benign	Het
Hsd3b1	A	T	3: 98,853,039	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,214,094		probably null	Het
Igf2bp2	A	G	16: 22,081,801	F129L	possibly damaging	Het
Kirrel3	T	A	9: 35,020,163	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,412	I204T	probably damaging	Het
Kpna6	A	T	4: 129,657,804	S65R	possibly damaging	Het
Lama3	A	T	18: 12,407,563	D308V	probably benign	Het
Larp4b	T	A	13: 9,158,107		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175	T11S	probably benign	Het
Man1c1	A	G	4: 134,578,315	L366P	probably damaging	Het
Mef2a	A	G	7: 67,251,724	M100T	probably damaging	Het
Mettl13	G	A	1: 162,538,889	H474Y	possibly damaging	Het
Mmp3	A	G	9: 7,451,320	D352G	probably benign	Het
Mns1	T	C	9: 72,452,804	I412T	probably damaging	Het
Mon2	T	C	10: 123,007,021	D1501G	probably null	Het
Mylk	G	T	16: 34,875,620	G242W	probably damaging	Het
Nav1	T	C	1: 135,449,966	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,453,883	S2P	probably damaging	Het
Nek3	A	T	8: 22,128,729		probably benign	Het
Nfrkb	A	G	9: 31,388,897		probably benign	Het
Nlrp4d	T	C	7: 10,388,778	D53G	probably benign	Het
Nol8	T	C	13: 49,662,152	S561P	probably damaging	Het
Nuf2	A	C	1: 169,525,297		probably benign	Het
Ofcc1	T	A	13: 40,015,313	D866V	possibly damaging	Het
Olfr195	A	G	16: 59,149,299	I150V	probably benign	Het
Optn	A	G	2: 5,046,195	L125P	probably benign	Het
Otoa	T	A	7: 121,131,341	F588Y	probably benign	Het
Pappa	T	A	4: 65,351,613		probably null	Het
Pde5a	T	G	3: 122,835,583	C635W	probably damaging	Het
Pdgfb	A	T	15: 80,003,419		probably null	Het
Pih1d2	T	A	9: 50,621,046	C135S	probably damaging	Het
Plcg1	G	T	2: 160,752,366	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,601,360		probably benign	Het
Prdm10	G	A	9: 31,349,268		probably null	Het
Prex2	T	A	1: 11,089,706		probably null	Het
Prss56	T	G	1: 87,184,730		probably null	Het
Prtg	A	G	9: 72,844,958	K209E	probably benign	Het
Ptprc	G	A	1: 138,122,575	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 29,145,860	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,248,634	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,885,998	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,178,547	V500A	probably damaging	Het
Rgs6	A	G	12: 83,133,677	K434R	probably damaging	Het
Rims1	C	T	1: 22,596,526	A125T	possibly damaging	Het
Robo3	A	G	9: 37,422,177	V746A	probably benign	Het
Rtl1	C	T	12: 109,591,386	E1340K	unknown	Het
Sacs	G	A	14: 61,205,640	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,403,977	P19S	probably benign	Het
Samhd1	T	C	2: 157,114,231	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,658,490	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243	A4T	probably benign	Het
Skint9	C	A	4: 112,389,179	L245F	probably benign	Het
Slc35f5	T	C	1: 125,585,095	L372P	probably damaging	Het
Smc1b	A	T	15: 85,066,277	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,957,573		probably benign	Het
Sptlc1	T	C	13: 53,337,612	D417G	probably benign	Het
Sv2c	T	C	13: 96,088,708	N31S	probably benign	Het
Tjp1	T	C	7: 65,314,990	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442	T1221A	probably benign	Het
Tph2	T	C	10: 115,174,109	D182G	probably damaging	Het
Traf6	C	T	2: 101,688,588	Q141*	probably null	Het
Ttn	T	C	2: 76,756,931	D21574G	probably damaging	Het
Uba2	T	A	7: 34,151,021	N367I	probably benign	Het
Ube2b	T	C	11: 51,988,602		probably benign	Het
Ubr5	G	T	15: 38,030,672	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,464,148	H301L	probably benign	Het
Utrn	T	C	10: 12,710,060	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,823,181	D734G	probably damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vwf	T	A	6: 125,626,361	Y891*	probably null	Het
Wwox	C	T	8: 114,706,278	T228I	probably benign	Het
Zer1	C	T	2: 30,108,213		probably benign	Het
Zfp180	C	T	7: 24,104,707	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,607,225	Y279N	probably benign	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
R0265:Upf2	UTSW	2	6027204	splice site	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'- TGTTGTTGCTGTTAGGTAGGGACCATAA -3'
(R):5'- TCCTTGAAGGGAATCAAGACCCTCAT -3'

Sequencing Primer
(F):5'- CTGTTAGGTAGGGACCATAATAAGC -3'
(R):5'- GGGAATCAAGACCCTCATCTTTTTAC -3'

Posted On

2013-08-08