Mutagenetix > Incidental Mutation

Incidental Mutation 'R3772:Xrn2'

273338

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

040748-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R3772 (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: 97.1%
20x: 94.5%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
Abcb11	T	A	2: 69,329,376		probably benign	Het
Adgrl1	A	G	8: 83,923,004	N97S	possibly damaging	Het
Aldh1a2	A	G	9: 71,252,920	D76G	probably damaging	Het
Aldh3a1	A	G	11: 61,214,605	E179G	possibly damaging	Het
Ap1g1	A	G	8: 109,837,786	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,265,366	T12A	probably benign	Het
Aurka	A	G	2: 172,366,960	L85P	probably benign	Het
Birc6	T	A	17: 74,618,429		probably benign	Het
Bmp7	A	T	2: 172,870,222	I403N	probably damaging	Het
Carns1	A	G	19: 4,170,916		probably benign	Het
Ccdc88c	G	A	12: 100,966,100		probably benign	Het
Ccl2	C	T	11: 82,036,958	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Clstn2	A	G	9: 97,582,562	I180T	probably damaging	Het
Col24a1	T	C	3: 145,545,286	L1680P	probably damaging	Het
Col4a6	C	A	X: 141,172,200	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,973,769	N573T	probably damaging	Het
Cts8	G	A	13: 61,250,901		probably benign	Het
Cxcl17	A	G	7: 25,400,329		probably benign	Het
Defb18	T	C	1: 18,236,621	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,854,408	I229T	probably benign	Het
Dysf	G	A	6: 84,152,351	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
F13a1	T	C	13: 36,898,134	K532R	probably benign	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Focad	A	C	4: 88,336,161		probably benign	Het
Frmd4a	A	T	2: 4,590,622	E109D	probably damaging	Het
Frrs1	T	G	3: 116,878,387	S45A	possibly damaging	Het
Gm5422	T	A	10: 31,248,514		noncoding transcript	Het
Gm5866	T	C	5: 52,582,746		noncoding transcript	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Iglon5	A	T	7: 43,480,613	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,244,076	Q90*	probably null	Het
Krt74	T	C	15: 101,762,195		noncoding transcript	Het
Lamc2	T	A	1: 153,124,251	M1121L	probably benign	Het
Lrig1	A	G	6: 94,605,817	L1073P	probably benign	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Man2c1	C	A	9: 57,140,377		probably benign	Het
Megf10	G	A	18: 57,283,862	D768N	probably benign	Het
Mycbp2	T	C	14: 103,133,788	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,476,418		probably benign	Het
Nnt	A	G	13: 119,396,952	V59A	probably damaging	Het
Nsd1	G	A	13: 55,246,673	V696I	probably benign	Het
Olfr99	T	C	17: 37,279,854	T189A	probably benign	Het
Pag1	G	A	3: 9,699,628	T155M	probably benign	Het
Pgam5	T	C	5: 110,265,593	H176R	probably damaging	Het
Pid1	T	C	1: 84,038,197	D149G	probably damaging	Het
Pkp3	G	A	7: 141,082,346	M1I	probably null	Het
Pld2	C	T	11: 70,544,123		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rab9b	T	A	X: 136,861,449	E67D	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf214	T	C	9: 45,866,634	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,574,161	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Sept10	A	T	10: 59,176,887	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,959,203	E339G	probably damaging	Het
Sf3b1	C	A	1: 54,999,991		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
St18	A	T	1: 6,844,329	K799I	probably damaging	Het
Strada	C	T	11: 106,164,822	R333Q	probably damaging	Het
Stradb	A	T	1: 58,985,385	I64L	probably benign	Het
Sun1	A	G	5: 139,238,820		probably benign	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,694,880	R227W	probably damaging	Het
Tnk2	A	G	16: 32,679,822	D651G	probably damaging	Het
Trim43c	A	T	9: 88,847,757	D417V	probably damaging	Het
Tsc22d4	T	C	5: 137,759,233	L374P	possibly damaging	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ubr4	T	C	4: 139,452,700	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 42,116,556	N29I	probably benign	Het
Zbed4	C	T	15: 88,780,787	P353S	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zwilch	A	T	9: 64,156,034	F286I	probably benign	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
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'- ACCTGAAGACAATGCAATAGAGATC -3'
(R):5'- AGCTGAGGTTTCCATTGCCG -3'

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

Posted On

2015-03-25