Mutagenetix > Incidental Mutation

Incidental Mutation 'R4173:Xrn2'

318202

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

041012-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4173 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146854916-146919920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146889612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 665 (V665A)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028921
AA Change: V665A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: V665A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akip1	C	T	7: 109,306,716 (GRCm39)	Q138*	probably null	Het
Cdk1	T	C	10: 69,180,991 (GRCm39)	D73G	probably benign	Het
Cspg4	A	G	9: 56,795,214 (GRCm39)	E983G	probably damaging	Het
Gnmt	A	G	17: 47,037,047 (GRCm39)	V217A	probably damaging	Het
Myo5c	A	G	9: 75,153,540 (GRCm39)	E142G	probably damaging	Het
Nr1h5	C	T	3: 102,859,546 (GRCm39)	R171H	probably damaging	Het
Opcml	C	T	9: 28,814,654 (GRCm39)	T302I	probably benign	Het
Or4c58	T	G	2: 89,675,122 (GRCm39)	D65A	probably damaging	Het
Pcdha11	T	C	18: 37,145,676 (GRCm39)	V589A	probably damaging	Het
Pigl	T	A	11: 62,349,337 (GRCm39)	F18I	probably benign	Het
Pip4k2b	T	C	11: 97,613,201 (GRCm39)	K265R	probably benign	Het
Rora	C	A	9: 68,561,192 (GRCm39)	T35K	probably benign	Het
Serpinb9e	A	G	13: 33,439,141 (GRCm39)	N189S	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc25a45	C	A	19: 5,930,611 (GRCm39)	Y99*	probably null	Het
Smgc	T	C	15: 91,744,759 (GRCm39)	S655P	possibly damaging	Het
Thbs2	A	C	17: 14,901,893 (GRCm39)		probably null	Het
Timd2	T	C	11: 46,561,787 (GRCm39)	T286A	probably benign	Het
Trav6d-3	A	G	14: 52,962,806 (GRCm39)	I14M	probably benign	Het
Trim28	A	G	7: 12,763,805 (GRCm39)	D622G	probably benign	Het
Txnl4b	G	A	8: 110,295,706 (GRCm39)	V37I	probably benign	Het
Ubr1	C	T	2: 120,777,103 (GRCm39)		probably null	Het
Vps13c	A	G	9: 67,843,595 (GRCm39)	N1959D	probably benign	Het
Xkr4	A	G	1: 3,286,711 (GRCm39)	F493S	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
R0991:Xrn2	UTSW	2	146,884,002 (GRCm39)	missense	probably benign	0.40
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
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'- TTAGTAAGGTGATAGCACTGCAAG -3'
(R):5'- TAGGTTAAGAAGGAAAGTTACTGCC -3'

Sequencing Primer
(F):5'- CACTGCAAGTGTGTAAAGTATGG -3'
(R):5'- GAAATGAAGTTTGTGCTGG -3'

Posted On

2015-06-10