Mutagenetix > Incidental Mutation

Incidental Mutation 'R3771:Xrn2'

273259

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

040747-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R3771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 147061287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 765 (V765A)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably benign
Transcript: ENSMUST00000028921
AA Change: V765A

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: V765A

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: ENSMUST00000137358

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,931,196	Y377H	probably damaging	Het
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
Aanat	G	T	11: 116,596,871	G132V	probably damaging	Het
Abcb11	T	A	2: 69,329,376		probably benign	Het
Adam26b	T	A	8: 43,520,714	D417V	probably damaging	Het
Ank1	T	C	8: 23,123,897	S1482P	probably benign	Het
Armc2	C	T	10: 41,922,227	V768M	probably damaging	Het
Ascc3	C	T	10: 50,720,718		probably benign	Het
Birc6	T	A	17: 74,618,429		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	A	T	15: 21,578,554		probably benign	Het
Chd1	A	G	17: 17,374,651	D16G	probably damaging	Het
Clstn2	A	G	9: 97,582,562	I180T	probably damaging	Het
Cxcr6	A	G	9: 123,810,485	I184V	probably benign	Het
Dagla	G	A	19: 10,248,467	P778S	possibly damaging	Het
Ddx19b	T	C	8: 111,020,981	K107R	probably benign	Het
Dpyd	G	A	3: 119,412,278		probably null	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
Fam13a	T	G	6: 58,987,186	K87T	probably benign	Het
Fap	C	A	2: 62,533,010	S359I	probably damaging	Het
Fbxo39	T	C	11: 72,317,215	I131T	possibly damaging	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Gm5866	T	C	5: 52,582,746		noncoding transcript	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Irf2bp2	T	C	8: 126,591,811	K339E	probably damaging	Het
Kat6b	A	G	14: 21,517,098	D75G	probably damaging	Het
Kcnab3	A	G	11: 69,328,563	T127A	probably damaging	Het
Kdm5b	G	T	1: 134,613,345	C725F	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Lrrn3	T	A	12: 41,452,870	I483L	probably damaging	Het
Man2c1	C	A	9: 57,140,377		probably benign	Het
Med23	G	T	10: 24,902,201	G810C	probably damaging	Het
Nhlrc4	T	A	17: 25,943,393	K127*	probably null	Het
Numb	T	C	12: 83,799,576	D344G	probably damaging	Het
Nup210l	T	G	3: 90,119,894	Y194*	probably null	Het
Ogg1	T	C	6: 113,333,843	V317A	possibly damaging	Het
Olfr822	A	G	10: 130,075,274	Y288C	probably damaging	Het
Olfr97	T	A	17: 37,231,465	I302F	possibly damaging	Het
Pclo	A	T	5: 14,539,408		probably null	Het
Pnpt1	T	C	11: 29,138,174	M195T	probably benign	Het
Polr3c	T	A	3: 96,725,854	T43S	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rasl10b	A	T	11: 83,418,523	T134S	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf39	T	C	17: 36,947,229	W96R	probably damaging	Het
Ros1	G	T	10: 52,128,991	A949E	probably damaging	Het
Rwdd2a	A	C	9: 86,574,161	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
Sun1	A	G	5: 139,238,820		probably benign	Het
Tc2n	T	A	12: 101,694,574	Q133L	possibly damaging	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tex2	T	C	11: 106,546,894	D650G	unknown	Het
Trio	A	G	15: 27,748,091	S2492P	probably damaging	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ugcg	T	C	4: 59,189,690	F16S	probably benign	Het
Usp16	T	C	16: 87,458,683	M1T	probably null	Het
Vmn1r60	C	A	7: 5,544,711	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,589,657	D235G	probably benign	Het
Vpreb3	A	T	10: 75,939,966	V26E	probably benign	Het
Vps39	C	T	2: 120,342,016	V179I	possibly damaging	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zfp61	T	C	7: 24,295,981	M1V	probably null	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
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'- TGCAATAGAGATCAGAGGTAGTTTG -3'
(R):5'- CAAGCTGAGGTTTCCATTGCC -3'

Sequencing Primer
(F):5'- TAGAGATCAGAGGTAGTTTGGTAAG -3'
(R):5'- ATTGCCGCCCATTGCTGG -3'

Posted On

2015-03-25