Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Upf2'

716415

Institutional Source

Beutler Lab

Gene Symbol

Upf2

Ensembl Gene

ENSMUSG00000043241

Gene Name

UPF2 regulator of nonsense transcripts homolog (yeast)

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9484 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5951469-6056703 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5961267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 233 (S233P)

Ref Sequence

ENSEMBL: ENSMUSP00000058375 (fasta)

Gene Model

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

AlphaFold

A2AT37

Predicted Effect

unknown
Transcript: ENSMUST00000060092
AA Change: S233P

SMART Domains

Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: S233P

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786 (GRCm38)	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344 (GRCm38)	I193T	probably benign	Het
Btbd2	T	C	10: 80,644,269 (GRCm38)	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,356,833 (GRCm38)	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647 (GRCm38)	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163 (GRCm38)	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937 (GRCm38)	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917 (GRCm38)	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712 (GRCm38)	A96S	unknown	Het
Ddx24	A	T	12: 103,411,296 (GRCm38)	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,676,111 (GRCm38)	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444 (GRCm38)	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208 (GRCm38)	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746 (GRCm38)	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432 (GRCm38)	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568 (GRCm38)	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825 (GRCm38)	E1262G	unknown	Het
Evl	T	A	12: 108,686,457 (GRCm38)	I387N	probably damaging	Het
Fat2	A	C	11: 55,309,926 (GRCm38)	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797 (GRCm38)	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134 (GRCm38)	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004 (GRCm38)	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026 (GRCm38)	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039 (GRCm38)	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215 (GRCm38)	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352 (GRCm38)	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003 (GRCm38)	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479 (GRCm38)	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015 (GRCm38)	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032 (GRCm38)	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678 (GRCm38)	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782 (GRCm38)	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334 (GRCm38)	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 189,256,694 (GRCm38)		probably null	Het
Krtap5-3	T	A	7: 142,202,331 (GRCm38)	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309 (GRCm38)	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594 (GRCm38)	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468 (GRCm38)	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336 (GRCm38)	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012 (GRCm38)	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488 (GRCm38)	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240 (GRCm38)	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638 (GRCm38)	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348 (GRCm38)	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417 (GRCm38)	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371 (GRCm38)	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991 (GRCm38)	L4S	probably benign	Het
Otogl	C	T	10: 107,901,295 (GRCm38)	G86D	probably damaging	Het
Otogl	T	A	10: 107,822,033 (GRCm38)		probably null	Het
Papln	A	T	12: 83,791,844 (GRCm38)	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,644,894 (GRCm38)	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426 (GRCm38)	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524 (GRCm38)	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809 (GRCm38)	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617 (GRCm38)	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407 (GRCm38)	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549 (GRCm38)	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947 (GRCm38)	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786 (GRCm38)	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234 (GRCm38)	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946 (GRCm38)	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466 (GRCm38)	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973 (GRCm38)	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973 (GRCm38)		probably benign	Het
Stra8	T	A	6: 34,934,186 (GRCm38)	W250R	probably damaging	Het
Syne1	A	C	10: 5,220,359 (GRCm38)	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250 (GRCm38)	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883 (GRCm38)	E27*	probably null	Het
Thada	C	A	17: 84,429,191 (GRCm38)	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629 (GRCm38)	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356 (GRCm38)	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944 (GRCm38)	Q457L	unknown	Het
Uba7	C	A	9: 107,983,838 (GRCm38)	H942Q	probably benign	Het
Urm1	T	A	2: 29,842,748 (GRCm38)	N72K	probably damaging	Het
Usp10	T	C	8: 119,948,765 (GRCm38)	S508P	possibly damaging	Het
Usp37	G	A	1: 74,459,922 (GRCm38)	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088 (GRCm38)	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433 (GRCm38)	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843 (GRCm38)	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010 (GRCm38)	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979 (GRCm38)	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281 (GRCm38)	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157 (GRCm38)	I390V	possibly damaging	Het

Other mutations in Upf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Upf2	APN	2	5,961,300 (GRCm38)	missense	unknown
IGL01394:Upf2	APN	2	6,040,213 (GRCm38)	splice site	probably null
IGL01571:Upf2	APN	2	6,018,939 (GRCm38)	unclassified	probably benign
IGL01624:Upf2	APN	2	6,034,179 (GRCm38)	missense	probably benign
IGL02121:Upf2	APN	2	6,026,323 (GRCm38)	splice site	probably benign
IGL02485:Upf2	APN	2	6,027,291 (GRCm38)	missense	unknown
IGL02491:Upf2	APN	2	6,026,164 (GRCm38)	missense	unknown
balderdash	UTSW	2	5,973,536 (GRCm38)	missense	unknown
nonsense	UTSW	2	6,047,034 (GRCm38)	missense	unknown
R0265:Upf2	UTSW	2	6,027,204 (GRCm38)	splice site	probably benign
R0390:Upf2	UTSW	2	6,018,894 (GRCm38)	unclassified	probably benign
R0480:Upf2	UTSW	2	5,957,634 (GRCm38)	missense	possibly damaging	0.71
R0513:Upf2	UTSW	2	5,957,667 (GRCm38)	missense	unknown
R0579:Upf2	UTSW	2	5,988,429 (GRCm38)	missense	unknown
R0612:Upf2	UTSW	2	6,034,098 (GRCm38)	splice site	probably benign
R0856:Upf2	UTSW	2	5,957,652 (GRCm38)	missense	unknown
R1103:Upf2	UTSW	2	6,026,175 (GRCm38)	missense	unknown
R1384:Upf2	UTSW	2	5,960,989 (GRCm38)	missense	unknown
R1672:Upf2	UTSW	2	6,040,097 (GRCm38)	splice site	probably null
R1728:Upf2	UTSW	2	6,027,450 (GRCm38)	missense	probably damaging	1.00
R1784:Upf2	UTSW	2	6,027,450 (GRCm38)	missense	probably damaging	1.00
R1836:Upf2	UTSW	2	6,050,324 (GRCm38)	splice site	probably null
R2252:Upf2	UTSW	2	5,961,460 (GRCm38)	missense	unknown
R2339:Upf2	UTSW	2	6,040,102 (GRCm38)	splice site	probably benign
R3015:Upf2	UTSW	2	5,976,079 (GRCm38)	missense	unknown
R3931:Upf2	UTSW	2	6,047,010 (GRCm38)	missense	unknown
R4151:Upf2	UTSW	2	5,961,705 (GRCm38)	missense	unknown
R4283:Upf2	UTSW	2	5,973,558 (GRCm38)	missense	unknown
R4558:Upf2	UTSW	2	5,973,593 (GRCm38)	missense	unknown
R4564:Upf2	UTSW	2	6,027,312 (GRCm38)	missense	unknown
R5630:Upf2	UTSW	2	6,027,301 (GRCm38)	missense	probably damaging	0.99
R6370:Upf2	UTSW	2	5,976,010 (GRCm38)	missense	unknown
R6418:Upf2	UTSW	2	6,027,339 (GRCm38)	missense	unknown
R6432:Upf2	UTSW	2	5,979,777 (GRCm38)	missense	unknown
R7184:Upf2	UTSW	2	6,023,320 (GRCm38)	missense	unknown
R7308:Upf2	UTSW	2	5,973,518 (GRCm38)	missense	unknown
R7371:Upf2	UTSW	2	5,961,040 (GRCm38)	missense	unknown
R7404:Upf2	UTSW	2	6,040,203 (GRCm38)	missense	unknown
R7439:Upf2	UTSW	2	6,018,932 (GRCm38)	missense	unknown
R7441:Upf2	UTSW	2	6,018,932 (GRCm38)	missense	unknown
R7461:Upf2	UTSW	2	5,973,536 (GRCm38)	missense	unknown
R7483:Upf2	UTSW	2	6,027,408 (GRCm38)	missense	unknown
R7613:Upf2	UTSW	2	5,973,536 (GRCm38)	missense	unknown
R7976:Upf2	UTSW	2	6,026,115 (GRCm38)	missense	unknown
R8044:Upf2	UTSW	2	6,029,438 (GRCm38)	missense	unknown
R8516:Upf2	UTSW	2	6,018,971 (GRCm38)	missense	unknown
R8880:Upf2	UTSW	2	6,026,172 (GRCm38)	missense	unknown
R8911:Upf2	UTSW	2	5,983,082 (GRCm38)	missense	unknown
R9138:Upf2	UTSW	2	6,023,321 (GRCm38)	missense	unknown
R9226:Upf2	UTSW	2	6,047,034 (GRCm38)	missense	unknown
R9444:Upf2	UTSW	2	6,018,944 (GRCm38)	missense	unknown
R9665:Upf2	UTSW	2	6,046,904 (GRCm38)	missense	unknown
R9691:Upf2	UTSW	2	6,027,213 (GRCm38)	missense	unknown
Z1176:Upf2	UTSW	2	6,023,388 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTAGCCGCCTAGATTCGAGC -3'
(R):5'- GTGTGGGATTCTCGATCAGC -3'

Sequencing Primer
(F):5'- TAGCCGCCTAGATTCGAGCTTAAAG -3'
(R):5'- CGCAAGTCAGTTCTTAGCT -3'

Posted On

2022-07-18