Mutagenetix > Incidental Mutation

Incidental Mutation 'R9138:Upf2'

694121

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 #

R9138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5956280-6061514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6028132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 739 (D739E)

Ref Sequence

ENSEMBL: ENSMUSP00000058375 (fasta)

Gene Model

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

AlphaFold

A2AT37

Predicted Effect

unknown
Transcript: ENSMUST00000060092
AA Change: D739E

SMART Domains

Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: D739E

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: 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adgre5	A	T	8: 84,452,563 (GRCm39)	N502K	probably benign	Het
Ago4	T	A	4: 126,414,073 (GRCm39)	K73*	probably null	Het
Angpt2	T	C	8: 18,764,162 (GRCm39)	I127V	probably benign	Het
Ankhd1	TGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGC	18: 36,693,961 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,722,626 (GRCm39)	I368N	probably damaging	Het
Arhgap5	A	G	12: 52,609,146 (GRCm39)	I1374V	probably benign	Het
B3galt9	T	C	2: 34,728,920 (GRCm39)	Y240H	probably damaging	Het
Bltp3b	T	A	10: 89,615,738 (GRCm39)	V127D	probably damaging	Het
Caln1	T	C	5: 130,698,449 (GRCm39)	L157P	probably damaging	Het
Cdh9	G	T	15: 16,823,273 (GRCm39)	G85V	probably damaging	Het
Chrna4	A	G	2: 180,670,775 (GRCm39)	V327A	probably damaging	Het
Col11a2	T	C	17: 34,279,847 (GRCm39)	S1156P		Het
Cps1	G	A	1: 67,254,569 (GRCm39)	V1253M	probably damaging	Het
Crb1	T	C	1: 139,162,468 (GRCm39)	E1291G		Het
Dab1	A	T	4: 104,588,929 (GRCm39)	K518*	probably null	Het
Ddias	A	T	7: 92,507,608 (GRCm39)	I769N	possibly damaging	Het
Dlg5	G	T	14: 24,295,376 (GRCm39)	A48E	probably damaging	Het
Dok1	G	T	6: 83,009,806 (GRCm39)	A101E	probably damaging	Het
Dpf2	T	C	19: 5,948,593 (GRCm39)	N389S	probably benign	Het
Evi5l	T	A	8: 4,233,582 (GRCm39)	S22T	probably benign	Het
Garin5b	A	G	7: 4,773,406 (GRCm39)	F137S		Het
Gm5431	T	A	11: 48,780,498 (GRCm39)	R141S	probably benign	Het
Gmds	A	T	13: 32,311,035 (GRCm39)	Y197*	probably null	Het
Gprc5a	T	A	6: 135,056,164 (GRCm39)	S204T	probably damaging	Het
H2bc1	T	C	13: 24,118,112 (GRCm39)	T10A	probably benign	Het
Hoxd12	T	A	2: 74,505,902 (GRCm39)	S158T	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kif16b	C	A	2: 142,542,476 (GRCm39)	E273D		Het
Lct	T	C	1: 128,227,894 (GRCm39)	I1200V	probably benign	Het
Lrrfip1	T	A	1: 91,038,080 (GRCm39)	L398I	probably damaging	Het
Mcm4	T	C	16: 15,447,200 (GRCm39)	E588G	probably damaging	Het
Mdga2	C	T	12: 66,615,663 (GRCm39)	G648D	possibly damaging	Het
Mfrp	A	G	9: 44,017,673 (GRCm39)	Q555R	possibly damaging	Het
Mtf1	C	T	4: 124,732,510 (GRCm39)	Q523*	probably null	Het
Naf1	A	G	8: 67,317,198 (GRCm39)	D230G	possibly damaging	Het
Nbeal1	G	T	1: 60,286,904 (GRCm39)	E909*	probably null	Het
Nxt1	C	A	2: 148,517,572 (GRCm39)	N104K	probably benign	Het
Ocstamp	T	A	2: 165,237,864 (GRCm39)	T467S	probably benign	Het
Or1j19	A	G	2: 36,676,702 (GRCm39)	H55R	probably benign	Het
Or4n4b	T	C	14: 50,536,494 (GRCm39)	I91V	probably benign	Het
Or5b123	T	A	19: 13,596,658 (GRCm39)	M44K	probably damaging	Het
Pcdhgc5	A	C	18: 37,953,892 (GRCm39)	T389P	probably benign	Het
Peak1	A	T	9: 56,164,925 (GRCm39)	V1001E	probably benign	Het
Phf11d	C	A	14: 59,602,833 (GRCm39)	C9F	probably benign	Het
Pkd1l2	T	A	8: 117,781,748 (GRCm39)	T766S	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,595 (GRCm39)	N57K		Het
Ptpro	T	A	6: 137,388,113 (GRCm39)		probably null	Het
Rasa1	T	C	13: 85,369,635 (GRCm39)	I896V	possibly damaging	Het
Rasa4	T	C	5: 136,131,455 (GRCm39)	L483P	possibly damaging	Het
Septin7	A	G	9: 25,212,761 (GRCm39)	Y309C	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slco3a1	A	T	7: 74,009,664 (GRCm39)	I217N	probably damaging	Het
Son	C	T	16: 91,452,006 (GRCm39)	T251I	possibly damaging	Het
Spata31e2	C	T	1: 26,721,253 (GRCm39)	C1309Y	possibly damaging	Het
Spen	T	C	4: 141,196,797 (GRCm39)	D3566G	probably damaging	Het
Stag1	T	C	9: 100,829,335 (GRCm39)	V1089A	probably benign	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,718,958 (GRCm39)	E354G	probably damaging	Het
Timd6	A	T	11: 46,468,126 (GRCm39)	T67S	probably damaging	Het
Tmem63c	T	C	12: 87,128,601 (GRCm39)	F542S	probably damaging	Het
Trav12-2	T	C	14: 53,854,178 (GRCm39)	S51P	probably benign	Het
Vmn1r193	A	T	13: 22,403,844 (GRCm39)	H49Q	probably damaging	Het
Vmn2r11	T	C	5: 109,201,904 (GRCm39)	D200G	probably damaging	Het
Vmn2r114	C	A	17: 23,510,578 (GRCm39)	C634F	probably damaging	Het
Zfp444	A	G	7: 6,192,690 (GRCm39)	H236R	probably damaging	Het
Zfp712	A	G	13: 67,189,318 (GRCm39)	L403P	probably damaging	Het
Zmpste24	T	G	4: 120,923,018 (GRCm39)	Y399S	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
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
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'- ACAAGGAAACTAGTAGCTCCCTAG -3'
(R):5'- TAACCTGTCCTGTCCTGGAG -3'

Sequencing Primer
(F):5'- AGTAGCTCCCTAGGTCTTAGAAC -3'
(R):5'- CCTCACGGTGACTATGACTATATGAC -3'

Posted On

2022-01-20