Mutagenetix > Incidental Mutation

Incidental Mutation 'R0991:Xrn2'

97692

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

039111-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0991 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146854916-146919920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146884002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 587 (K587R)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably benign
Transcript: ENSMUST00000028921
AA Change: K587R

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: K587R

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: ENSMUST00000136136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147057

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 91.6%
20x: 77.4%

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	T	A	18: 34,449,160 (GRCm39)	C1985S	probably damaging	Het
Atp8a2	T	C	14: 60,031,378 (GRCm39)	S899G	probably benign	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dtwd1	G	A	2: 126,001,940 (GRCm39)	R220Q	probably damaging	Het
Edil3	A	T	13: 89,437,625 (GRCm39)	K409*	probably null	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Mia	G	A	7: 26,880,145 (GRCm39)	R81C	probably damaging	Het
Pik3c2a	A	G	7: 115,961,280 (GRCm39)		probably null	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Rd3	A	G	1: 191,717,199 (GRCm39)	E223G	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Vmn1r65	G	A	7: 6,012,076 (GRCm39)	P53S	probably damaging	Het

Other mutations in Xrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Xrn2	APN	2	146,878,670 (GRCm39)	missense	probably benign	0.00
IGL00950:Xrn2	APN	2	146,870,066 (GRCm39)	nonsense	probably null
IGL01323:Xrn2	APN	2	146,876,767 (GRCm39)	splice site	probably benign
IGL01328:Xrn2	APN	2	146,871,850 (GRCm39)	missense	possibly damaging	0.90
IGL01545:Xrn2	APN	2	146,880,099 (GRCm39)	missense	probably benign
IGL01729:Xrn2	APN	2	146,878,717 (GRCm39)	critical splice donor site	probably null
IGL01805:Xrn2	APN	2	146,870,063 (GRCm39)	missense	probably damaging	0.98
IGL02326:Xrn2	APN	2	146,889,633 (GRCm39)	missense	probably benign	0.32
IGL02332:Xrn2	APN	2	146,868,510 (GRCm39)	missense	probably damaging	1.00
IGL02556:Xrn2	APN	2	146,880,216 (GRCm39)	splice site	probably benign
IGL02609:Xrn2	APN	2	146,891,945 (GRCm39)	missense	probably benign	0.00
IGL02941:Xrn2	APN	2	146,868,444 (GRCm39)	missense	probably damaging	1.00
IGL03119:Xrn2	APN	2	146,884,792 (GRCm39)	missense	probably damaging	1.00
R0052:Xrn2	UTSW	2	146,882,885 (GRCm39)	splice site	probably benign
R0114:Xrn2	UTSW	2	146,871,699 (GRCm39)	missense	probably damaging	0.98
R0196:Xrn2	UTSW	2	146,889,580 (GRCm39)	missense	probably damaging	0.99
R0799:Xrn2	UTSW	2	146,871,818 (GRCm39)	missense	probably benign	0.03
R1444:Xrn2	UTSW	2	146,903,408 (GRCm39)	missense	probably damaging	0.99
R1727:Xrn2	UTSW	2	146,903,436 (GRCm39)	missense	probably benign	0.00
R1735:Xrn2	UTSW	2	146,903,343 (GRCm39)	missense	probably damaging	1.00
R1885:Xrn2	UTSW	2	146,891,281 (GRCm39)	nonsense	probably null
R2199:Xrn2	UTSW	2	146,866,670 (GRCm39)	missense	probably damaging	0.96
R2884:Xrn2	UTSW	2	146,889,576 (GRCm39)	missense	probably damaging	1.00
R3730:Xrn2	UTSW	2	146,866,729 (GRCm39)	missense	probably benign	0.09
R3771:Xrn2	UTSW	2	146,903,207 (GRCm39)	missense	probably benign	0.12
R3772:Xrn2	UTSW	2	146,903,207 (GRCm39)	missense	probably benign	0.12
R3773:Xrn2	UTSW	2	146,903,207 (GRCm39)	missense	probably benign	0.12
R3816:Xrn2	UTSW	2	146,870,120 (GRCm39)	missense	probably damaging	1.00
R3927:Xrn2	UTSW	2	146,880,109 (GRCm39)	missense	probably benign
R4173:Xrn2	UTSW	2	146,889,612 (GRCm39)	missense	probably damaging	0.96
R4659:Xrn2	UTSW	2	146,903,394 (GRCm39)	missense	probably benign	0.01
R4928:Xrn2	UTSW	2	146,893,638 (GRCm39)	missense	possibly damaging	0.80
R5452:Xrn2	UTSW	2	146,866,633 (GRCm39)	critical splice acceptor site	probably null
R5527:Xrn2	UTSW	2	146,871,675 (GRCm39)	missense	probably benign	0.02
R6297:Xrn2	UTSW	2	146,868,490 (GRCm39)	missense	probably damaging	1.00
R6301:Xrn2	UTSW	2	146,905,262 (GRCm39)	missense	probably benign	0.05
R6316:Xrn2	UTSW	2	146,883,930 (GRCm39)	missense	probably damaging	1.00
R6705:Xrn2	UTSW	2	146,878,582 (GRCm39)	critical splice acceptor site	probably null
R7173:Xrn2	UTSW	2	146,884,013 (GRCm39)	missense	probably damaging	1.00
R7408:Xrn2	UTSW	2	146,884,017 (GRCm39)	critical splice donor site	probably null
R7412:Xrn2	UTSW	2	146,891,266 (GRCm39)	missense	probably damaging	0.99
R7501:Xrn2	UTSW	2	146,871,676 (GRCm39)	missense	probably damaging	1.00
R7856:Xrn2	UTSW	2	146,910,393 (GRCm39)	splice site	probably null
R8912:Xrn2	UTSW	2	146,891,913 (GRCm39)	missense	probably benign	0.04
R8969:Xrn2	UTSW	2	146,871,304 (GRCm39)	missense	probably damaging	1.00
R9083:Xrn2	UTSW	2	146,880,199 (GRCm39)	missense	probably damaging	1.00
R9179:Xrn2	UTSW	2	146,855,081 (GRCm39)	missense	probably benign	0.04
Z1177:Xrn2	UTSW	2	146,870,126 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GTTCGCAACTACTACTGCCACCTG -3'
(R):5'- CTTCCGCCATGTTGGAGGTAGAAAG -3'

Sequencing Primer
(F):5'- TATTCGATGACAGAAGCTCTGAG -3'
(R):5'- GTAGAAAGTTACCACTTGCAGC -3'

Posted On

2014-01-05