Mutagenetix > Incidental Mutation

Incidental Mutation 'R7404:Upf2'

574395

Institutional Source

Beutler Lab

Gene Symbol

Upf2

Ensembl Gene

ENSMUSG00000043241

Gene Name

UPF2 regulator of nonsense transcripts homolog (yeast)

Synonyms

MMRRC Submission

045486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5956280-6061514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6045014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1088 (E1088G)

Ref Sequence

ENSEMBL: ENSMUSP00000058375 (fasta)

Gene Model

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

AlphaFold

A2AT37

Predicted Effect

unknown
Transcript: ENSMUST00000060092
AA Change: E1088G

SMART Domains

Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: E1088G

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
AA Change: E342G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119348
Gene: ENSMUSG00000043241
AA Change: E342G

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

0.1928

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,955,099 (GRCm39)	A297T	probably damaging	Het
Adprhl1	T	A	8: 13,275,118 (GRCm39)	S547C	probably damaging	Het
Ankrd63	G	C	2: 118,533,793 (GRCm39)	R43G	unknown	Het
Asah2	T	C	19: 32,035,254 (GRCm39)	T24A	probably benign	Het
Asb17	G	A	3: 153,550,447 (GRCm39)		probably null	Het
Atp8b5	C	T	4: 43,342,640 (GRCm39)	T437I	probably benign	Het
Bbs2	T	C	8: 94,808,992 (GRCm39)	D311G	probably damaging	Het
Birc6	C	T	17: 74,946,789 (GRCm39)	T2851I	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cchcr1	T	C	17: 35,835,693 (GRCm39)	W266R	probably benign	Het
Col14a1	C	A	15: 55,252,024 (GRCm39)	S560*	probably null	Het
Crocc	G	A	4: 140,753,497 (GRCm39)	T1317M	possibly damaging	Het
Cxxc1	T	A	18: 74,352,278 (GRCm39)	V334E	possibly damaging	Het
Cyp3a25	T	A	5: 145,923,635 (GRCm39)	D336V	probably damaging	Het
Dapk1	A	G	13: 60,867,455 (GRCm39)	T221A	probably benign	Het
Dnah11	G	T	12: 118,068,543 (GRCm39)	T1605K	probably benign	Het
Dnah7c	T	C	1: 46,705,223 (GRCm39)	V2412A	possibly damaging	Het
Ect2l	T	A	10: 18,035,529 (GRCm39)	D524V	probably damaging	Het
Ehbp1l1	T	C	19: 5,770,872 (GRCm39)	E223G	possibly damaging	Het
Ephb2	A	T	4: 136,498,524 (GRCm39)	M185K	probably damaging	Het
Fcer1a	T	C	1: 173,049,083 (GRCm39)	K243E	probably damaging	Het
Fcgbp	T	A	7: 27,800,932 (GRCm39)	I1326N	probably damaging	Het
Fgfr1	T	C	8: 26,045,566 (GRCm39)	V45A	probably benign	Het
Filip1	T	A	9: 79,727,380 (GRCm39)	E413V	possibly damaging	Het
Frs3	T	C	17: 48,013,651 (GRCm39)		probably null	Het
Fstl4	A	G	11: 53,024,898 (GRCm39)	T257A	probably benign	Het
Golga5	A	T	12: 102,450,778 (GRCm39)	K477M	probably damaging	Het
Gpr171	A	T	3: 59,005,622 (GRCm39)	I51K	probably damaging	Het
H1f0	T	A	15: 78,913,080 (GRCm39)	Y53*	probably null	Het
Hephl1	A	G	9: 14,981,047 (GRCm39)	V795A	possibly damaging	Het
Hmcn1	A	T	1: 150,596,510 (GRCm39)	D1775E	probably benign	Het
Hs3st2	A	G	7: 121,100,168 (GRCm39)	D338G	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,534 (GRCm39)	Y255F	probably benign	Het
Hspa9	T	C	18: 35,076,329 (GRCm39)	N328D	possibly damaging	Het
Hvcn1	T	A	5: 122,375,748 (GRCm39)	I100N	probably damaging	Het
Ifi207	C	T	1: 173,556,494 (GRCm39)	S748N	possibly damaging	Het
Katnip	A	T	7: 125,464,434 (GRCm39)	N1267I	probably damaging	Het
Kcnma1	G	T	14: 24,052,902 (GRCm39)	T180K	unknown	Het
Kctd16	A	G	18: 40,391,826 (GRCm39)	D138G	probably damaging	Het
Kifc3	A	G	8: 95,830,092 (GRCm39)	Y605H	probably benign	Het
Kmt2d	T	A	15: 98,743,376 (GRCm39)	Q3928L	unknown	Het
Lamb2	C	T	9: 108,364,782 (GRCm39)	R1179C	probably damaging	Het
Layn	T	A	9: 50,968,670 (GRCm39)	I358F	possibly damaging	Het
Lrig1	G	A	6: 94,603,452 (GRCm39)	T232M	probably damaging	Het
Lrp1	T	C	10: 127,418,577 (GRCm39)	T38A		Het
Map3k14	A	G	11: 103,129,918 (GRCm39)	V333A	probably benign	Het
Med13	T	C	11: 86,177,272 (GRCm39)	D1608G	possibly damaging	Het
Mrps31	T	G	8: 22,911,429 (GRCm39)	S224A	probably benign	Het
Msh6	G	T	17: 88,282,548 (GRCm39)			Het
Ncapd3	A	G	9: 26,978,315 (GRCm39)	D838G	probably benign	Het
Nlrp1a	C	A	11: 70,987,919 (GRCm39)	E1184*	probably null	Het
Npat	T	A	9: 53,466,233 (GRCm39)		probably null	Het
Nup210	A	T	6: 91,050,227 (GRCm39)	I414N	probably benign	Het
Or1e19	A	T	11: 73,316,419 (GRCm39)	L130H	probably damaging	Het
Or52n2	A	T	7: 104,542,181 (GRCm39)	V218E	possibly damaging	Het
Or5b122	T	A	19: 13,562,752 (GRCm39)	I28N	possibly damaging	Het
Or5h19	T	C	16: 58,856,603 (GRCm39)	T166A	possibly damaging	Het
Or6z5	T	C	7: 6,477,163 (GRCm39)	L18P	probably damaging	Het
Or8b12c	A	T	9: 37,715,257 (GRCm39)	T17S	possibly damaging	Het
Or8h7	A	C	2: 86,721,217 (GRCm39)	L101V	probably benign	Het
Otud7b	G	C	3: 96,043,936 (GRCm39)		probably null	Het
Phf11d	A	C	14: 59,596,942 (GRCm39)	W86G	probably benign	Het
Pik3c2b	T	A	1: 133,018,444 (GRCm39)	S964T	probably damaging	Het
Pira1	T	C	7: 3,742,344 (GRCm39)	Y61C	probably damaging	Het
Plod3	G	A	5: 137,023,901 (GRCm39)	V687I	probably benign	Het
Poglut1	T	G	16: 38,358,284 (GRCm39)	Y208S	possibly damaging	Het
Pou1f1	T	A	16: 65,330,749 (GRCm39)	L253H	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Rhbdl3	C	T	11: 80,237,659 (GRCm39)	S297L	probably damaging	Het
Rxra	A	T	2: 27,631,866 (GRCm39)	N179I	probably damaging	Het
Ryr2	C	T	13: 11,750,506 (GRCm39)	E1922K	probably damaging	Het
Scube1	T	C	15: 83,499,211 (GRCm39)	Y668C	probably damaging	Het
Sec16b	A	G	1: 157,358,927 (GRCm39)	Y120C	probably damaging	Het
Sec61b	G	T	4: 47,483,047 (GRCm39)	K92N	probably damaging	Het
Skic3	T	A	13: 76,296,866 (GRCm39)	Y1074*	probably null	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc17a7	T	A	7: 44,822,354 (GRCm39)	Y397N	probably benign	Het
Slc25a3	A	G	10: 90,952,902 (GRCm39)	V333A	possibly damaging	Het
Slc7a8	A	T	14: 54,964,283 (GRCm39)	V390E	probably damaging	Het
Sorbs2	G	A	8: 46,212,233 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,621,650 (GRCm39)	N948D	probably benign	Het
Tacc2	A	T	7: 130,225,066 (GRCm39)	T584S	probably benign	Het
Tec	A	T	5: 72,920,961 (GRCm39)	D471E	probably damaging	Het
Tecpr2	C	T	12: 110,898,038 (GRCm39)	A430V	probably benign	Het
Tmcc2	A	T	1: 132,288,759 (GRCm39)	D309E	probably damaging	Het
Tmem82	G	A	4: 141,344,742 (GRCm39)	A67V	possibly damaging	Het
Ttc23l	T	C	15: 10,551,663 (GRCm39)	Q21R	probably damaging	Het
Ubl3	A	G	5: 148,448,764 (GRCm39)	F26L	probably damaging	Het
Usp9y	T	A	Y: 1,341,780 (GRCm39)	I1362F	probably benign	Het
Wnk4	T	A	11: 101,159,318 (GRCm39)		probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfc3h1	T	A	10: 115,251,153 (GRCm39)	V1248D	probably damaging	Het
Zfp12	T	A	5: 143,226,099 (GRCm39)	V56D	probably 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
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'- TCCGACAGATTCCATGAAAGG -3'
(R):5'- ATGCTGATGTGGTTGGCATAAC -3'

Sequencing Primer
(F):5'- GCTAGGAGTAAGTAAACGACACACC -3'
(R):5'- TGGCATAACCAGAGGTAAAGG -3'

Posted On

2019-09-13