Mutagenetix > Incidental Mutation

Incidental Mutation 'R7483:Upf2'

579884

Institutional Source

Beutler Lab

Gene Symbol

Upf2

Ensembl Gene

ENSMUSG00000043241

Gene Name

UPF2 regulator of nonsense transcripts homolog (yeast)

Synonyms

MMRRC Submission

045557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7483 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5956280-6061514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6032219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 922 (T922A)

Ref Sequence

ENSEMBL: ENSMUSP00000058375 (fasta)

Gene Model

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

AlphaFold

A2AT37

Predicted Effect

unknown
Transcript: ENSMUST00000060092
AA Change: T922A

SMART Domains

Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: T922A

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

SMART Domains

Protein: ENSMUSP00000119348
Gene: ENSMUSG00000043241
AA Change: T177A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,794,075 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,982,186 (GRCm39)	S1157P	probably damaging	Het
Akap12	T	G	10: 4,303,967 (GRCm39)	V364G	probably benign	Het
Ankrd17	A	G	5: 90,447,855 (GRCm39)	S229P	probably benign	Het
Apof	A	T	10: 128,104,636 (GRCm39)	Y5F	probably benign	Het
Arhgap24	T	A	5: 102,989,174 (GRCm39)	M94K	probably benign	Het
Ash2l	G	T	8: 26,312,798 (GRCm39)	D479E	probably damaging	Het
Atp8a2	A	T	14: 60,245,824 (GRCm39)	C623S	probably benign	Het
Bmper	T	A	9: 23,395,238 (GRCm39)	N656K	probably benign	Het
Braf	T	C	6: 39,604,772 (GRCm39)	I619V	possibly damaging	Het
Brwd1	T	C	16: 95,857,373 (GRCm39)	R396G	probably damaging	Het
Car7	A	T	8: 105,276,216 (GRCm39)	T234S	probably benign	Het
Catsper4	A	T	4: 133,945,552 (GRCm39)	V169E	probably damaging	Het
Cemip	T	G	7: 83,647,784 (GRCm39)	I99L	probably damaging	Het
Chrna7	C	A	7: 62,754,738 (GRCm39)	V290L	probably damaging	Het
Clip1	A	T	5: 123,755,447 (GRCm39)	D944E	probably benign	Het
Cplane2	A	G	4: 140,947,153 (GRCm39)	D178G	probably damaging	Het
Cyp2c68	T	C	19: 39,677,581 (GRCm39)	T470A	probably benign	Het
Dmbx1	G	T	4: 115,780,908 (GRCm39)	A31D	probably damaging	Het
Dnah7b	T	C	1: 46,214,579 (GRCm39)	F1115L	probably damaging	Het
Dock10	T	C	1: 80,493,283 (GRCm39)	I1897V	probably benign	Het
Efcab3	A	G	11: 105,000,112 (GRCm39)	I234V	probably benign	Het
Eid2b	T	G	7: 27,977,243 (GRCm39)	L13R	probably damaging	Het
Enam	A	G	5: 88,649,679 (GRCm39)	Y396C	probably damaging	Het
Fam161a	A	T	11: 22,971,006 (GRCm39)	T395S	probably damaging	Het
Fat1	A	G	8: 45,476,197 (GRCm39)	R1748G	probably benign	Het
Fdxacb1	C	A	9: 50,681,451 (GRCm39)	T124K	possibly damaging	Het
Fer1l6	A	T	15: 58,513,794 (GRCm39)	D1563V	possibly damaging	Het
Gm20834	T	C	Y: 10,323,226 (GRCm39)	H70R	probably damaging	Het
Gucy2d	T	A	7: 98,098,964 (GRCm39)	M261K	probably damaging	Het
Hcar2	T	A	5: 124,002,861 (GRCm39)	Q214L	probably benign	Het
Hdac11	C	T	6: 91,136,214 (GRCm39)	H75Y	probably damaging	Het
Hoxa2	C	A	6: 52,141,279 (GRCm39)	A116S	probably benign	Het
Ints2	A	G	11: 86,106,444 (GRCm39)	C989R	probably damaging	Het
Jpt1	T	C	11: 115,393,950 (GRCm39)	E36G	probably damaging	Het
Kdm5d	G	A	Y: 914,044 (GRCm39)	R327Q	possibly damaging	Het
Klhl1	T	C	14: 96,584,304 (GRCm39)	M309V	probably benign	Het
Larp4	A	G	15: 99,889,659 (GRCm39)	K193E	probably benign	Het
Lmo3	C	T	6: 138,393,500 (GRCm39)	C40Y	probably damaging	Het
Mcm4	A	G	16: 15,448,306 (GRCm39)	V417A	probably benign	Het
Med8	A	G	4: 118,268,176 (GRCm39)	E34G	probably damaging	Het
Mex3b	G	T	7: 82,517,114 (GRCm39)	A86S	possibly damaging	Het
Muc6	T	C	7: 141,224,245 (GRCm39)	T1646A	unknown	Het
Myo15b	A	T	11: 115,749,570 (GRCm39)	E113D		Het
Myo7a	T	A	7: 97,712,881 (GRCm39)	H1698L	probably benign	Het
Myocos	T	A	1: 162,484,678 (GRCm39)	M44L	unknown	Het
Nalcn	A	G	14: 123,551,499 (GRCm39)	V1036A	probably damaging	Het
Nfrkb	C	T	9: 31,325,328 (GRCm39)	Q924*	probably null	Het
Nol6	A	G	4: 41,117,424 (GRCm39)	L923P	possibly damaging	Het
Nrxn3	T	C	12: 89,477,232 (GRCm39)	Y472H	probably damaging	Het
Nudcd1	A	G	15: 44,269,253 (GRCm39)	Y136H	possibly damaging	Het
Obox2	T	C	7: 15,131,241 (GRCm39)	C116R	probably damaging	Het
Onecut3	A	T	10: 80,331,310 (GRCm39)	S157C	unknown	Het
Or10ak11	A	G	4: 118,687,517 (GRCm39)	V39A	probably damaging	Het
Or11g27	T	A	14: 50,771,472 (GRCm39)	V201D	probably benign	Het
Or2d2b	T	A	7: 106,705,982 (GRCm39)	I29F	probably benign	Het
Or4f15	T	C	2: 111,814,124 (GRCm39)	I98M	probably damaging	Het
Oscp1	C	T	4: 125,967,726 (GRCm39)	R91*	probably null	Het
Pclo	A	T	5: 14,762,606 (GRCm39)	D408V		Het
Pde8a	T	C	7: 80,932,581 (GRCm39)	V81A	probably benign	Het
Pde8b	T	A	13: 95,164,251 (GRCm39)	D653V	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pik3cg	T	C	12: 32,245,647 (GRCm39)	Y867C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Psd4	A	T	2: 24,294,768 (GRCm39)	D776V	possibly damaging	Het
Ptprb	A	G	10: 116,119,334 (GRCm39)	E156G	probably benign	Het
Rad54b	A	G	4: 11,610,372 (GRCm39)	Y663C	probably damaging	Het
Ranbp3l	T	A	15: 9,030,955 (GRCm39)	V78D	possibly damaging	Het
Rbm12	T	C	2: 155,940,138 (GRCm39)	I45V	unknown	Het
Scn9a	A	G	2: 66,363,692 (GRCm39)	V862A	probably damaging	Het
Sdcbp	T	C	4: 6,393,089 (GRCm39)	I242T	possibly damaging	Het
Slc25a24	A	G	3: 109,066,751 (GRCm39)	T302A	probably damaging	Het
Slc45a3	G	T	1: 131,904,549 (GRCm39)		probably benign	Het
Srpk1	T	C	17: 28,813,192 (GRCm39)	I517M	probably benign	Het
Tmx4	A	G	2: 134,481,581 (GRCm39)	M114T	probably benign	Het
Trhr	T	A	15: 44,092,627 (GRCm39)	V288D	probably damaging	Het
Tspoap1	A	T	11: 87,652,351 (GRCm39)	I42F	probably benign	Het
Ttn	A	T	2: 76,781,856 (GRCm39)	D1063E	unknown	Het
Tusc3	A	G	8: 39,538,635 (GRCm39)	I225V	probably benign	Het
Ugt2b38	A	G	5: 87,571,973 (GRCm39)	S20P	probably damaging	Het
Usp38	C	T	8: 81,741,190 (GRCm39)		probably benign	Het
Vmn1r216	A	G	13: 23,283,738 (GRCm39)	I140M	probably damaging	Het
Vmn2r115	T	A	17: 23,565,371 (GRCm39)	N419K	possibly damaging	Het
Vmn2r55	C	T	7: 12,404,755 (GRCm39)	G216D	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wnt7b	C	A	15: 85,421,615 (GRCm39)	R349L	possibly damaging	Het
Xbp1	T	C	11: 5,471,098 (GRCm39)	V35A	probably benign	Het
Zan	A	T	5: 137,445,057 (GRCm39)	M1734K	unknown	Het
Zfhx4	A	G	3: 5,477,237 (GRCm39)	E3284G	probably damaging	Het
Zfp458	A	G	13: 67,404,978 (GRCm39)	L487S	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het
Zp1	A	G	19: 10,895,280 (GRCm39)	L324P	possibly damaging	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
R0612:Upf2	UTSW	2	6,038,909 (GRCm39)	splice site	probably benign
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
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'- CTTCAGTGAAAACCTGTGGGG -3'
(R):5'- TAAGGTCTCTACAGTAAGTACAACC -3'

Sequencing Primer
(F):5'- CCTAAATTTAACCAGAGGCGTATCAG -3'
(R):5'- CTGTTACATATGCATTCAGTG -3'

Posted On

2019-10-07