Mutagenetix > Incidental Mutation

Incidental Mutation 'R2199:Xrn2'

238542

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

040201-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2199 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 147024750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 80 (A80V)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028921
AA Change: A80V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: A80V

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,335,624	I119V	probably benign	Het
Arfgap2	T	A	2: 91,265,692		probably null	Het
Ccm2	T	C	11: 6,590,790	V216A	probably damaging	Het
Ctdspl2	T	C	2: 121,987,029		probably null	Het
Dmxl2	T	C	9: 54,376,243	T2769A	probably benign	Het
Dnah3	C	T	7: 119,951,569	V3165M	possibly damaging	Het
Dnajc1	A	C	2: 18,308,899	F137C	probably damaging	Het
Gli2	A	T	1: 118,837,648	D924E	possibly damaging	Het
Gnrhr	T	C	5: 86,197,818	N3S	probably benign	Het
Grhl1	G	T	12: 24,612,170	R536L	probably damaging	Het
Hormad1	T	C	3: 95,567,722		probably null	Het
Il20	T	A	1: 130,910,739	I74L	probably benign	Het
Ints11	A	G	4: 155,875,281	K115R	probably benign	Het
Irx4	A	T	13: 73,265,601	E63D	probably benign	Het
Itch	A	C	2: 155,202,221	Q482P	probably benign	Het
Kctd8	C	A	5: 69,341,245	M19I	probably benign	Het
Klhl31	T	C	9: 77,650,101	L33P	probably damaging	Het
Lrp1	A	T	10: 127,546,840	C3691S	probably damaging	Het
Lrrc39	A	G	3: 116,570,961	D167G	probably damaging	Het
Lrrd1	A	T	5: 3,866,478	I832L	possibly damaging	Het
Lrriq1	A	G	10: 103,068,913	V1620A	probably damaging	Het
Ltbr	T	C	6: 125,312,061	K213E	probably benign	Het
Megf8	T	A	7: 25,339,614	D883E	possibly damaging	Het
Nmt1	T	A	11: 103,063,856	S405T	probably damaging	Het
Nsd3	G	T	8: 25,666,057	V547F	probably damaging	Het
Olfr1215	A	G	2: 89,001,550	V246A	probably damaging	Het
Olfr828	C	A	9: 18,815,923	V124F	probably damaging	Het
Otud7a	A	G	7: 63,757,656	K569R	possibly damaging	Het
Otud7b	A	G	3: 96,155,772	Y776C	probably damaging	Het
Pcdh15	T	C	10: 74,170,509	I73T	probably damaging	Het
Rnf213	A	T	11: 119,460,009	H3890L	probably benign	Het
Sall3	T	C	18: 80,971,870	T948A	probably benign	Het
Slc44a3	T	C	3: 121,513,744	I198V	probably benign	Het
Slc9a3r2	T	C	17: 24,640,596	E174G	probably null	Het
Smg7	C	A	1: 152,854,328	D405Y	probably damaging	Het
Synpo2l	A	G	14: 20,661,919	L211S	probably benign	Het
Thsd7b	A	G	1: 130,218,158	Y1601C	probably benign	Het
Traf4	T	C	11: 78,159,980	Y450C	probably damaging	Het
Trpv1	A	G	11: 73,240,251	K239E	probably damaging	Het
Ttn	C	T	2: 76,754,806	G20302S	probably damaging	Het
Ube2o	A	G	11: 116,544,745	S406P	probably benign	Het
Zfp616	C	T	11: 74,084,630	T575I	possibly 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
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
R5452:Xrn2	UTSW	2	147024713	critical splice acceptor site	probably null
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'- TTCCAGTTGATGCCAGTAAACC -3'
(R):5'- ATAATCCATAGCATTGCACAGC -3'

Sequencing Primer
(F):5'- GTTGATGCCAGTAAACCTAATCC -3'
(R):5'- ACAGCAAATGACAAAAGAAAATGTC -3'

Posted On

2014-10-02