Mutagenetix > Incidental Mutation

Incidental Mutation 'R5452:Xrn2'

432556

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

042848-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5452 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 147024713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028921]

AlphaFold

Q9DBR1

Predicted Effect

probably null
Transcript: ENSMUST00000028921

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433

Domain	Start	End	E-Value	Type
Pfam:XRN_N	1	254	1.5e-104	PFAM
ZnF_C2HC	262	278	7.99e-1	SMART
low complexity region	415	427	N/A	INTRINSIC
PDB:3FQD\|A	469	785	8e-75	PDB
low complexity region	913	932	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147057

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	A	6: 149,329,113	S1219*	probably null	Het
Adam20	A	T	8: 40,795,764	I304F	probably damaging	Het
Adamts5	A	G	16: 85,869,912		probably benign	Het
Akr1c6	A	G	13: 4,454,545	R132G	probably benign	Het
Ash1l	T	A	3: 88,984,876	M1354K	possibly damaging	Het
C6	T	C	15: 4,814,829	I911T	possibly damaging	Het
Calm2	T	C	17: 87,435,722		probably null	Het
Ccdc80	G	A	16: 45,118,165	R745Q	probably damaging	Het
Celsr3	T	C	9: 108,844,034	I2685T	possibly damaging	Het
Chkb	T	C	15: 89,429,585		probably benign	Het
Dennd5b	T	A	6: 149,041,513		probably null	Het
Dnah2	T	C	11: 69,524,383	Y175C	probably damaging	Het
Dnajc13	A	G	9: 104,192,114	S1154P	probably benign	Het
Ephb4	T	C	5: 137,361,142	S325P	probably damaging	Het
Fzd9	C	T	5: 135,250,860	R57H	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm9949	A	G	18: 62,180,516		probably benign	Het
Gnb4	A	T	3: 32,589,845	M188K	probably benign	Het
Hr	G	T	14: 70,556,627	G109V	probably damaging	Het
Lrp1b	A	G	2: 40,922,316	S2426P	probably damaging	Het
Map2k4	A	G	11: 65,719,587	W88R	probably damaging	Het
Map4	C	T	9: 110,037,783		probably benign	Het
Moxd2	C	T	6: 40,882,114		probably null	Het
Mrgprx1	T	C	7: 48,021,808	I64V	probably benign	Het
Olfr493	A	C	7: 108,346,105	I292S	probably damaging	Het
Padi2	T	C	4: 140,932,071	F229S	probably benign	Het
Pappa2	T	C	1: 158,838,602	N1136S	probably benign	Het
Pcdhb1	A	T	18: 37,265,758	N254I	possibly damaging	Het
Plcb2	A	G	2: 118,718,246	Y400H	probably damaging	Het
Plce1	A	C	19: 38,620,482	T412P	probably benign	Het
Prg4	T	C	1: 150,455,768		probably benign	Het
Prkdc	A	G	16: 15,768,637	N2510S	possibly damaging	Het
Psme4	T	A	11: 30,791,168	S107T	probably benign	Het
Rint1	G	T	5: 23,794,365	A51S	probably benign	Het
Rsad1	T	A	11: 94,543,689	R306S	probably damaging	Het
Sema3c	T	G	5: 17,717,070		probably null	Het
Sirt3	G	A	7: 140,865,015	T290I	probably damaging	Het
Skiv2l2	T	C	13: 112,913,181	S232G	probably null	Het
Spam1	G	A	6: 24,800,732	G490D	probably benign	Het
Speer4f2	C	T	5: 17,376,500	R147W	possibly damaging	Het
Sppl2c	A	T	11: 104,187,300	I309L	probably benign	Het
Srxn1	G	A	2: 152,105,879	V66M	probably damaging	Het
St3gal4	C	T	9: 35,053,456	R152H	probably damaging	Het
Sv2c	A	T	13: 95,978,083	F532I	probably damaging	Het
Tacc1	C	A	8: 25,164,415	K705N	probably null	Het
Tekt3	G	T	11: 63,094,793	S475I	probably damaging	Het
Tjap1	T	C	17: 46,260,175	T139A	probably damaging	Het
Tnfrsf8	T	A	4: 145,292,644	K207M	possibly damaging	Het
Tnn	T	C	1: 160,110,261	T965A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trmt2a	A	G	16: 18,250,950	H270R	probably damaging	Het
Ttc21a	T	C	9: 119,950,971	L448P	probably benign	Het
Ttll4	C	A	1: 74,679,321	N110K	probably benign	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Ubr1	A	G	2: 120,868,302	Y1595H	possibly damaging	Het
Unc45a	G	A	7: 80,329,039	P621S	probably damaging	Het
Zcchc6	A	G	13: 59,800,657	Y215H	probably damaging	Het

Other mutations in Xrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Xrn2	APN	2	147036750	missense	probably benign	0.00
IGL00950:Xrn2	APN	2	147028146	nonsense	probably null
IGL01323:Xrn2	APN	2	147034847	splice site	probably benign
IGL01328:Xrn2	APN	2	147029930	missense	possibly damaging	0.90
IGL01545:Xrn2	APN	2	147038179	missense	probably benign
IGL01729:Xrn2	APN	2	147036797	critical splice donor site	probably null
IGL01805:Xrn2	APN	2	147028143	missense	probably damaging	0.98
IGL02326:Xrn2	APN	2	147047713	missense	probably benign	0.32
IGL02332:Xrn2	APN	2	147026590	missense	probably damaging	1.00
IGL02556:Xrn2	APN	2	147038296	splice site	probably benign
IGL02609:Xrn2	APN	2	147050025	missense	probably benign	0.00
IGL02941:Xrn2	APN	2	147026524	missense	probably damaging	1.00
IGL03119:Xrn2	APN	2	147042872	missense	probably damaging	1.00
R0052:Xrn2	UTSW	2	147040965	splice site	probably benign
R0114:Xrn2	UTSW	2	147029779	missense	probably damaging	0.98
R0196:Xrn2	UTSW	2	147047660	missense	probably damaging	0.99
R0799:Xrn2	UTSW	2	147029898	missense	probably benign	0.03
R0991:Xrn2	UTSW	2	147042082	missense	probably benign	0.40
R1444:Xrn2	UTSW	2	147061488	missense	probably damaging	0.99
R1727:Xrn2	UTSW	2	147061516	missense	probably benign	0.00
R1735:Xrn2	UTSW	2	147061423	missense	probably damaging	1.00
R1885:Xrn2	UTSW	2	147049361	nonsense	probably null
R2199:Xrn2	UTSW	2	147024750	missense	probably damaging	0.96
R2884:Xrn2	UTSW	2	147047656	missense	probably damaging	1.00
R3730:Xrn2	UTSW	2	147024809	missense	probably benign	0.09
R3771:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3772:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3773:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3816:Xrn2	UTSW	2	147028200	missense	probably damaging	1.00
R3927:Xrn2	UTSW	2	147038189	missense	probably benign
R4173:Xrn2	UTSW	2	147047692	missense	probably damaging	0.96
R4659:Xrn2	UTSW	2	147061474	missense	probably benign	0.01
R4928:Xrn2	UTSW	2	147051718	missense	possibly damaging	0.80
R5527:Xrn2	UTSW	2	147029755	missense	probably benign	0.02
R6297:Xrn2	UTSW	2	147026570	missense	probably damaging	1.00
R6301:Xrn2	UTSW	2	147063342	missense	probably benign	0.05
R6316:Xrn2	UTSW	2	147042010	missense	probably damaging	1.00
R6705:Xrn2	UTSW	2	147036662	critical splice acceptor site	probably null
R7173:Xrn2	UTSW	2	147042093	missense	probably damaging	1.00
R7408:Xrn2	UTSW	2	147042097	critical splice donor site	probably null
R7412:Xrn2	UTSW	2	147049346	missense	probably damaging	0.99
R7501:Xrn2	UTSW	2	147029756	missense	probably damaging	1.00
R7856:Xrn2	UTSW	2	147068473	splice site	probably null
R8912:Xrn2	UTSW	2	147049993	missense	probably benign	0.04
R8969:Xrn2	UTSW	2	147029384	missense	probably damaging	1.00
R9083:Xrn2	UTSW	2	147038279	missense	probably damaging	1.00
R9179:Xrn2	UTSW	2	147013161	missense	probably benign	0.04
Z1177:Xrn2	UTSW	2	147028206	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TTCATAGCCAAAAGAATGCAACGG -3'
(R):5'- TACTATTCAGCTGACTTTCACTGAG -3'

Sequencing Primer
(F):5'- GATTCCAGTTGATGCCAGTAAACC -3'
(R):5'- CAGCTGACTTTCACTGAGATATTC -3'

Posted On

2016-10-06