Mutagenetix > Incidental Mutation

Incidental Mutation 'R0612:Upf2'

54782

Institutional Source

Beutler Lab

Gene Symbol

Upf2

Ensembl Gene

ENSMUSG00000043241

Gene Name

UPF2 regulator of nonsense transcripts homolog (yeast)

Synonyms

MMRRC Submission

038801-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0612 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

5956280-6061514 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 6038909 bp (GRCm39)

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

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.2%
20x: 93.5%

Validation Efficiency

98% (92/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,936,478 (GRCm39)	L181P	probably damaging	Het
Aldh3a1	A	T	11: 61,105,445 (GRCm39)	I184F	probably damaging	Het
Arl6ip4	A	G	5: 124,254,596 (GRCm39)	S30G	probably benign	Het
Atp9b	T	C	18: 80,797,171 (GRCm39)	E891G	possibly damaging	Het
Brsk1	T	C	7: 4,710,425 (GRCm39)	L478P	possibly damaging	Het
Btaf1	G	A	19: 36,946,537 (GRCm39)	V448I	probably damaging	Het
Cab39	T	C	1: 85,746,236 (GRCm39)		probably null	Het
Cacna2d4	G	T	6: 119,258,679 (GRCm39)		probably benign	Het
Capzb	C	T	4: 139,018,340 (GRCm39)	S253L	probably benign	Het
Ccdc174	A	G	6: 91,867,873 (GRCm39)		probably benign	Het
Ccdc180	C	T	4: 45,927,969 (GRCm39)	A1168V	probably damaging	Het
Cdh19	T	C	1: 110,820,900 (GRCm39)		probably benign	Het
Cdh8	T	C	8: 100,127,546 (GRCm39)	T22A	probably benign	Het
Cdk10	T	C	8: 123,957,419 (GRCm39)	V181A	probably benign	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cftr	A	C	6: 18,198,125 (GRCm39)	T20P	probably benign	Het
Cip2a	C	T	16: 48,819,402 (GRCm39)	A112V	probably benign	Het
Clstn3	T	C	6: 124,426,459 (GRCm39)	T576A	probably damaging	Het
Col1a2	G	A	6: 4,516,003 (GRCm39)	V165I	unknown	Het
Copg2	A	T	6: 30,838,404 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,178,929 (GRCm39)	H47R	probably benign	Het
Cytip	T	C	2: 58,024,202 (GRCm39)	D206G	possibly damaging	Het
Dcaf8l	G	A	X: 88,448,972 (GRCm39)	R386*	probably null	Het
Dnmt1	C	T	9: 20,829,489 (GRCm39)	E824K	probably damaging	Het
Dock7	A	C	4: 98,877,470 (GRCm39)	V442G	probably benign	Het
Dsc1	T	G	18: 20,247,573 (GRCm39)	K14T	probably damaging	Het
Dync1h1	C	T	12: 110,582,930 (GRCm39)	P371L	probably damaging	Het
Enah	A	G	1: 181,734,013 (GRCm39)		probably benign	Het
Entrep2	C	T	7: 64,411,549 (GRCm39)	V395M	probably benign	Het
Fastkd1	T	C	2: 69,542,727 (GRCm39)	T27A	probably benign	Het
Fcho1	A	G	8: 72,168,168 (GRCm39)	L248P	probably damaging	Het
Fezf1	A	T	6: 23,247,028 (GRCm39)	V268D	probably damaging	Het
Fgd2	T	A	17: 29,597,321 (GRCm39)	V547E	probably benign	Het
Flnb	T	A	14: 7,887,682 (GRCm38)		probably benign	Het
Gabrg3	A	G	7: 56,379,454 (GRCm39)	M316T	probably damaging	Het
Gigyf2	T	C	1: 87,376,802 (GRCm39)	F1265L	probably damaging	Het
Git2	A	G	5: 114,890,342 (GRCm39)	S271P	probably damaging	Het
Gorab	T	C	1: 163,224,738 (GRCm39)	D21G	possibly damaging	Het
Gpr179	T	A	11: 97,229,264 (GRCm39)	T964S	possibly damaging	Het
Hdac5	A	G	11: 102,087,078 (GRCm39)	V1042A	possibly damaging	Het
Hoxa2	T	A	6: 52,140,540 (GRCm39)	T149S	probably damaging	Het
Igsf8	G	T	1: 172,146,974 (GRCm39)	*108L	probably null	Het
Il1rap	C	T	16: 26,519,855 (GRCm39)	T307M	possibly damaging	Het
Itih2	T	C	2: 10,122,205 (GRCm39)	D232G	probably benign	Het
Jak3	A	G	8: 72,136,021 (GRCm39)	Y607C	probably damaging	Het
Kcnh1	C	T	1: 191,959,361 (GRCm39)	P305L	probably damaging	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Lrrn2	T	C	1: 132,865,466 (GRCm39)	L177P	probably damaging	Het
Lypd8l	A	G	11: 58,502,799 (GRCm39)		probably null	Het
Map4k3	C	A	17: 80,909,622 (GRCm39)	K712N	probably damaging	Het
Med11	A	G	11: 70,342,910 (GRCm39)	T36A	probably benign	Het
Mmp14	A	G	14: 54,677,891 (GRCm39)	D504G	probably damaging	Het
Mob1a	A	G	6: 83,311,140 (GRCm39)	T120A	probably benign	Het
Mr1	T	A	1: 155,013,436 (GRCm39)	D47V	probably damaging	Het
Nacad	G	T	11: 6,551,382 (GRCm39)	A603E	possibly damaging	Het
Nwd1	T	A	8: 73,394,308 (GRCm39)	W524R	probably damaging	Het
Or11g26	A	T	14: 50,752,939 (GRCm39)	T93S	probably benign	Het
Or13a19	T	A	7: 139,903,101 (GRCm39)	M163K	possibly damaging	Het
Or4e1	T	C	14: 52,701,008 (GRCm39)	T153A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pde6c	T	A	19: 38,121,694 (GRCm39)	C101S	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdlim4	G	A	11: 53,959,713 (GRCm39)	R16C	probably damaging	Het
Pfkp	A	G	13: 6,655,670 (GRCm39)		probably null	Het
Plcg2	T	A	8: 118,300,104 (GRCm39)	S225T	probably benign	Het
Pramel1	T	C	4: 143,124,101 (GRCm39)	S259P	probably damaging	Het
Pramel27	G	T	4: 143,578,658 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,301,227 (GRCm39)	N92D	possibly damaging	Het
Ric8b	C	A	10: 84,837,745 (GRCm39)	N517K	probably damaging	Het
Rnf34	G	A	5: 123,002,237 (GRCm39)	R65H	probably damaging	Het
Rraga	C	T	4: 86,494,564 (GRCm39)	R137C	probably damaging	Het
Scube2	C	T	7: 109,403,971 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,352,179 (GRCm39)	M339T	probably damaging	Het
Spata31d1d	T	C	13: 59,875,787 (GRCm39)	I583V	probably benign	Het
Suox	T	C	10: 128,506,525 (GRCm39)	E501G	probably benign	Het
Susd1	A	G	4: 59,390,561 (GRCm39)		probably benign	Het
Tac1	T	C	6: 7,555,653 (GRCm39)	S14P	probably damaging	Het
Tbc1d8	T	C	1: 39,411,596 (GRCm39)	E1080G	possibly damaging	Het
Tll1	A	C	8: 64,524,344 (GRCm39)	S447R	possibly damaging	Het
Tmem132e	G	A	11: 82,334,198 (GRCm39)	V662M	probably damaging	Het
Uspl1	A	G	5: 149,151,767 (GRCm39)	E989G	probably damaging	Het
Vmn1r58	T	C	7: 5,413,618 (GRCm39)	H204R	probably damaging	Het
Vmn2r25	A	T	6: 123,816,481 (GRCm39)	C367S	probably damaging	Het
Vps13b	A	T	15: 35,623,803 (GRCm39)	Q1240L	probably benign	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	Het
Yeats2	T	G	16: 20,005,175 (GRCm39)	V385G	probably benign	Het

Other mutations in Upf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Upf2	APN	2	5,966,111 (GRCm39)	missense	unknown
IGL01394:Upf2	APN	2	6,045,024 (GRCm39)	splice site	probably null
IGL01571:Upf2	APN	2	6,023,750 (GRCm39)	unclassified	probably benign
IGL01624:Upf2	APN	2	6,038,990 (GRCm39)	missense	probably benign
IGL02121:Upf2	APN	2	6,031,134 (GRCm39)	splice site	probably benign
IGL02485:Upf2	APN	2	6,032,102 (GRCm39)	missense	unknown
IGL02491:Upf2	APN	2	6,030,975 (GRCm39)	missense	unknown
Balderdash	UTSW	2	5,978,347 (GRCm39)	missense	unknown
nonsense	UTSW	2	6,051,845 (GRCm39)	missense	unknown
R0265:Upf2	UTSW	2	6,032,015 (GRCm39)	splice site	probably benign
R0390:Upf2	UTSW	2	6,023,705 (GRCm39)	unclassified	probably benign
R0480:Upf2	UTSW	2	5,962,445 (GRCm39)	missense	possibly damaging	0.71
R0513:Upf2	UTSW	2	5,962,478 (GRCm39)	missense	unknown
R0579:Upf2	UTSW	2	5,993,240 (GRCm39)	missense	unknown
R0856:Upf2	UTSW	2	5,962,463 (GRCm39)	missense	unknown
R1103:Upf2	UTSW	2	6,030,986 (GRCm39)	missense	unknown
R1384:Upf2	UTSW	2	5,965,800 (GRCm39)	missense	unknown
R1672:Upf2	UTSW	2	6,044,908 (GRCm39)	splice site	probably null
R1728:Upf2	UTSW	2	6,032,261 (GRCm39)	missense	probably damaging	1.00
R1784:Upf2	UTSW	2	6,032,261 (GRCm39)	missense	probably damaging	1.00
R1836:Upf2	UTSW	2	6,055,135 (GRCm39)	splice site	probably null
R2252:Upf2	UTSW	2	5,966,271 (GRCm39)	missense	unknown
R2339:Upf2	UTSW	2	6,044,913 (GRCm39)	splice site	probably benign
R3015:Upf2	UTSW	2	5,980,890 (GRCm39)	missense	unknown
R3931:Upf2	UTSW	2	6,051,821 (GRCm39)	missense	unknown
R4151:Upf2	UTSW	2	5,966,516 (GRCm39)	missense	unknown
R4283:Upf2	UTSW	2	5,978,369 (GRCm39)	missense	unknown
R4558:Upf2	UTSW	2	5,978,404 (GRCm39)	missense	unknown
R4564:Upf2	UTSW	2	6,032,123 (GRCm39)	missense	unknown
R5630:Upf2	UTSW	2	6,032,112 (GRCm39)	missense	probably damaging	0.99
R6370:Upf2	UTSW	2	5,980,821 (GRCm39)	missense	unknown
R6418:Upf2	UTSW	2	6,032,150 (GRCm39)	missense	unknown
R6432:Upf2	UTSW	2	5,984,588 (GRCm39)	missense	unknown
R7184:Upf2	UTSW	2	6,028,131 (GRCm39)	missense	unknown
R7308:Upf2	UTSW	2	5,978,329 (GRCm39)	missense	unknown
R7371:Upf2	UTSW	2	5,965,851 (GRCm39)	missense	unknown
R7404:Upf2	UTSW	2	6,045,014 (GRCm39)	missense	unknown
R7439:Upf2	UTSW	2	6,023,743 (GRCm39)	missense	unknown
R7441:Upf2	UTSW	2	6,023,743 (GRCm39)	missense	unknown
R7461:Upf2	UTSW	2	5,978,347 (GRCm39)	missense	unknown
R7483:Upf2	UTSW	2	6,032,219 (GRCm39)	missense	unknown
R7613:Upf2	UTSW	2	5,978,347 (GRCm39)	missense	unknown
R7976:Upf2	UTSW	2	6,030,926 (GRCm39)	missense	unknown
R8044:Upf2	UTSW	2	6,034,249 (GRCm39)	missense	unknown
R8516:Upf2	UTSW	2	6,023,782 (GRCm39)	missense	unknown
R8880:Upf2	UTSW	2	6,030,983 (GRCm39)	missense	unknown
R8911:Upf2	UTSW	2	5,987,893 (GRCm39)	missense	unknown
R9138:Upf2	UTSW	2	6,028,132 (GRCm39)	missense	unknown
R9226:Upf2	UTSW	2	6,051,845 (GRCm39)	missense	unknown
R9444:Upf2	UTSW	2	6,023,755 (GRCm39)	missense	unknown
R9484:Upf2	UTSW	2	5,966,078 (GRCm39)	missense	unknown
R9665:Upf2	UTSW	2	6,051,715 (GRCm39)	missense	unknown
R9691:Upf2	UTSW	2	6,032,024 (GRCm39)	missense	unknown
Z1176:Upf2	UTSW	2	6,028,199 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGTGTGTCTGAGGCTGACCTTTAC -3'
(R):5'- AAAACATTTACTCGCCGGGTGGT -3'

Sequencing Primer
(F):5'- TGTCTGTCTTCATCTGAGATTGAC -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2013-07-11