Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Upf2'

47967

Institutional Source

Beutler Lab

Gene Symbol

Upf2

Ensembl Gene

ENSMUSG00000043241

Gene Name

UPF2 regulator of nonsense transcripts homolog (yeast)

Synonyms

MMRRC Submission

038707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0513 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

5956280-6061514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5962478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 60 (L60Q)

Ref Sequence

ENSEMBL: ENSMUSP00000058375 (fasta)

Gene Model

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

AlphaFold

A2AT37

Predicted Effect

unknown
Transcript: ENSMUST00000060092
AA Change: L60Q

SMART Domains

Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: L60Q

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

Meta Mutation Damage Score

0.0658

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,195 (GRCm39)	T146A	probably benign	Het
Abcg4	A	G	9: 44,192,984 (GRCm39)	S121P	possibly damaging	Het
Actr2	T	C	11: 20,030,124 (GRCm39)	T212A	probably damaging	Het
Adcy10	T	A	1: 165,347,088 (GRCm39)	D368E	probably benign	Het
Albfm1	A	T	5: 90,725,786 (GRCm39)	T333S	probably benign	Het
Anapc15	T	C	7: 101,547,747 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,256,678 (GRCm39)	R67G	probably benign	Het
Aox4	A	G	1: 58,286,459 (GRCm39)	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,766 (GRCm39)	S755T	probably benign	Het
Atm	A	G	9: 53,415,248 (GRCm39)	V881A	probably benign	Het
Cdkal1	C	T	13: 29,809,948 (GRCm39)		probably benign	Het
Cfap20dc	A	C	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap61	C	A	2: 145,877,215 (GRCm39)	N491K	possibly damaging	Het
Chgb	T	C	2: 132,627,897 (GRCm39)		probably benign	Het
Chrna1	C	A	2: 73,398,426 (GRCm39)		probably benign	Het
Chst10	A	G	1: 38,904,844 (GRCm39)	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,466,323 (GRCm39)		probably null	Het
Crppa	A	T	12: 36,440,467 (GRCm39)	H125L	probably damaging	Het
Cryzl1	G	T	16: 91,496,175 (GRCm39)	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,709,618 (GRCm39)	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,805,375 (GRCm39)	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348 (GRCm39)	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,545,755 (GRCm39)		probably benign	Het
Dag1	G	A	9: 108,085,684 (GRCm39)	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,804,361 (GRCm39)	L33P	probably benign	Het
Dlc1	C	T	8: 37,051,164 (GRCm39)	G856R	probably damaging	Het
Dst	T	A	1: 34,258,612 (GRCm39)		probably benign	Het
Dtl	A	T	1: 191,301,819 (GRCm39)	Y79*	probably null	Het
Egfr	T	G	11: 16,822,855 (GRCm39)	L406R	probably damaging	Het
Elp3	A	T	14: 65,800,695 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,310,621 (GRCm39)		probably null	Het
Frs2	T	C	10: 116,910,570 (GRCm39)	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,252,706 (GRCm39)	V58L	probably damaging	Het
Gm17324	G	A	9: 78,356,007 (GRCm39)		probably benign	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gm9956	G	T	10: 56,621,291 (GRCm39)			Het
Gsg1l	C	T	7: 125,619,795 (GRCm39)		probably null	Het
Herc1	G	A	9: 66,352,927 (GRCm39)	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,943,764 (GRCm39)	L448P	probably benign	Het
Ing3	C	T	6: 21,970,034 (GRCm39)	S255L	probably damaging	Het
Krt78	T	C	15: 101,859,384 (GRCm39)	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,816 (GRCm39)	L606H	probably damaging	Het
Lmod1	T	A	1: 135,252,906 (GRCm39)	N53K	probably damaging	Het
Lsr	G	C	7: 30,657,763 (GRCm39)	A467G	probably benign	Het
Mbtd1	T	A	11: 93,823,038 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,998,802 (GRCm39)	Y337*	probably null	Het
Mlxipl	A	T	5: 135,166,117 (GRCm39)	Q833L	probably benign	Het
Mon2	C	T	10: 122,874,515 (GRCm39)	V278M	probably damaging	Het
Mxra8	A	C	4: 155,926,190 (GRCm39)	M180L	probably benign	Het
Myo18a	A	T	11: 77,702,420 (GRCm39)		probably benign	Het
Myo1c	T	G	11: 75,556,657 (GRCm39)		probably null	Het
Myo1g	T	C	11: 6,460,203 (GRCm39)	T782A	probably benign	Het
Ncapd3	A	G	9: 26,975,401 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,328,256 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,741,185 (GRCm39)	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,531,584 (GRCm39)	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,072,598 (GRCm39)	D699N	probably damaging	Het
Nrbp2	C	T	15: 75,960,825 (GRCm39)	A45T	probably benign	Het
Obscn	A	G	11: 58,952,348 (GRCm39)	V3907A	possibly damaging	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or2y6	T	C	11: 52,104,576 (GRCm39)	Q80R	possibly damaging	Het
Or8b8	A	T	9: 37,809,351 (GRCm39)	Y217F	probably damaging	Het
Pank2	C	T	2: 131,124,526 (GRCm39)	T290I	probably damaging	Het
Pbx4	T	C	8: 70,317,529 (GRCm39)	V171A	probably benign	Het
Pcgf1	G	T	6: 83,057,555 (GRCm39)	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,515,660 (GRCm39)	S778P	probably damaging	Het
Pld6	T	C	11: 59,676,047 (GRCm39)	I141M	probably damaging	Het
Polq	T	A	16: 36,914,864 (GRCm39)	V2508E	probably damaging	Het
Prkca	C	G	11: 107,905,202 (GRCm39)	D179H	possibly damaging	Het
Pspn	T	C	17: 57,306,720 (GRCm39)	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,814,637 (GRCm39)	T846I	probably benign	Het
Reg3g	A	C	6: 78,444,827 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,704,139 (GRCm39)	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,788,987 (GRCm39)	Q611*	probably null	Het
Scart1	C	A	7: 139,804,873 (GRCm39)	C625*	probably null	Het
Scgb1b20	G	A	7: 33,072,739 (GRCm39)		probably null	Het
Sfxn5	T	C	6: 85,246,955 (GRCm39)		probably benign	Het
Sh3tc1	T	A	5: 35,857,651 (GRCm39)	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,051,762 (GRCm39)	I37V	probably benign	Het
Slc35f5	T	C	1: 125,503,906 (GRCm39)		probably benign	Het
Slc8a2	A	C	7: 15,891,264 (GRCm39)	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,924,909 (GRCm39)		noncoding transcript	Het
Smurf2	T	A	11: 106,726,931 (GRCm39)	T453S	probably benign	Het
Spag16	A	G	1: 70,532,927 (GRCm39)		probably benign	Het
Spindoc	G	A	19: 7,351,509 (GRCm39)	T205I	probably benign	Het
Stab1	T	C	14: 30,870,902 (GRCm39)	I1316V	probably benign	Het
Stox2	T	C	8: 47,646,900 (GRCm39)	R187G	probably damaging	Het
Tcea2	A	C	2: 181,326,274 (GRCm39)	T93P	probably benign	Het
Tenm4	T	C	7: 96,544,830 (GRCm39)	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,788,026 (GRCm39)	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,780,158 (GRCm39)	H698L	probably benign	Het
Trim33	A	G	3: 103,217,700 (GRCm39)	D215G	probably damaging	Het
Ttc3	T	A	16: 94,227,071 (GRCm39)	I727N	probably damaging	Het
Ttn	T	A	2: 76,773,669 (GRCm39)	K2271N	probably damaging	Het
Ubr2	T	A	17: 47,297,705 (GRCm39)	K223*	probably null	Het
Ubr4	A	G	4: 139,144,186 (GRCm39)	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,271 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,981,391 (GRCm39)	H880L	probably benign	Het
Unc80	G	A	1: 66,661,633 (GRCm39)	C1686Y	possibly damaging	Het
Usf2	A	T	7: 30,654,161 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,586 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,588 (GRCm39)		probably benign	Het
Vmn2r118	T	A	17: 55,917,970 (GRCm39)	K181*	probably null	Het
Vmn2r124	T	A	17: 18,293,991 (GRCm39)	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 85,877,987 (GRCm39)	G470V	probably benign	Het
Vps13c	A	C	9: 67,838,017 (GRCm39)	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210 (GRCm39)	L119F	probably damaging	Het
Wdfy3	T	A	5: 102,038,655 (GRCm39)	S2012C	probably damaging	Het
Zfp1008	A	C	13: 62,753,029 (GRCm39)	V99G	possibly damaging	Het
Zfp142	A	G	1: 74,610,714 (GRCm39)	V924A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp235	T	C	7: 23,841,644 (GRCm39)	S688P	probably damaging	Het
Zfp39	C	T	11: 58,780,813 (GRCm39)	V650I	probably benign	Het
Zfp82	A	T	7: 29,756,265 (GRCm39)	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,789,698 (GRCm39)	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,291,258 (GRCm39)	D2116N	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
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
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'- AGGCAGCACCGTGCTACTTCATAG -3'
(R):5'- AACCTCACGAATGGTCAGGGGAAC -3'

Sequencing Primer
(F):5'- TGGGTCACATAATGCCAGC -3'
(R):5'- TAGGTGCCCACTCTCACG -3'

Posted On

2013-06-12