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

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R3772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146854916-146919920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146903207 bp (GRCm39)

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
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adgrl1	A	G	8: 84,649,633 (GRCm39)	N97S	possibly damaging	Het
Aldh1a2	A	G	9: 71,160,202 (GRCm39)	D76G	probably damaging	Het
Aldh3a1	A	G	11: 61,105,431 (GRCm39)	E179G	possibly damaging	Het
Ap1g1	A	G	8: 110,564,418 (GRCm39)	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,095,711 (GRCm39)	T12A	probably benign	Het
Aurka	A	G	2: 172,208,880 (GRCm39)	L85P	probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,712,015 (GRCm39)	I403N	probably damaging	Het
Carns1	A	G	19: 4,220,915 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,932,359 (GRCm39)		probably benign	Het
Ccl2	C	T	11: 81,927,784 (GRCm39)	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Col24a1	T	C	3: 145,251,041 (GRCm39)	L1680P	probably damaging	Het
Col4a6	C	A	X: 139,955,196 (GRCm39)	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,950,752 (GRCm39)	N573T	probably damaging	Het
Cts8	G	A	13: 61,398,715 (GRCm39)		probably benign	Het
Cxcl17	A	G	7: 25,099,754 (GRCm39)		probably benign	Het
Defb18	T	C	1: 18,306,845 (GRCm39)	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,782,130 (GRCm39)	I229T	probably benign	Het
Dysf	G	A	6: 84,129,333 (GRCm39)	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
F13a1	T	C	13: 37,082,108 (GRCm39)	K532R	probably benign	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Focad	A	C	4: 88,254,398 (GRCm39)		probably benign	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Frrs1	T	G	3: 116,672,036 (GRCm39)	S45A	possibly damaging	Het
Gm5422	T	A	10: 31,124,510 (GRCm39)		noncoding transcript	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Iglon5	A	T	7: 43,130,037 (GRCm39)	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,283,157 (GRCm39)	Q90*	probably null	Het
Krt74	T	C	15: 101,670,630 (GRCm39)		noncoding transcript	Het
Lamc2	T	A	1: 152,999,997 (GRCm39)	M1121L	probably benign	Het
Lrig1	A	G	6: 94,582,798 (GRCm39)	L1073P	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Megf10	G	A	18: 57,416,934 (GRCm39)	D768N	probably benign	Het
Mycbp2	T	C	14: 103,371,224 (GRCm39)	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,651,003 (GRCm39)		probably benign	Het
Nnt	A	G	13: 119,533,488 (GRCm39)	V59A	probably damaging	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Pag1	G	A	3: 9,764,688 (GRCm39)	T155M	probably benign	Het
Pgam5	T	C	5: 110,413,459 (GRCm39)	H176R	probably damaging	Het
Pid1	T	C	1: 84,015,918 (GRCm39)	D149G	probably damaging	Het
Pkp3	G	A	7: 140,662,259 (GRCm39)	M1I	probably null	Het
Pld2	C	T	11: 70,434,949 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rab9b	T	A	X: 135,762,198 (GRCm39)	E67D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf214	T	C	9: 45,777,932 (GRCm39)	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Septin10	A	T	10: 59,012,709 (GRCm39)	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,558,375 (GRCm39)	E339G	probably damaging	Het
Sf3b1	C	A	1: 55,039,150 (GRCm39)		probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
St18	A	T	1: 6,914,553 (GRCm39)	K799I	probably damaging	Het
Strada	C	T	11: 106,055,648 (GRCm39)	R333Q	probably damaging	Het
Stradb	A	T	1: 59,024,544 (GRCm39)	I64L	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tnk2	A	G	16: 32,498,640 (GRCm39)	D651G	probably damaging	Het
Trim43c	A	T	9: 88,729,810 (GRCm39)	D417V	probably damaging	Het
Tsc22d4	T	C	5: 137,757,495 (GRCm39)	L374P	possibly damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ubr4	T	C	4: 139,180,011 (GRCm39)	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 41,765,980 (GRCm39)	N29I	probably benign	Het
Zbed4	C	T	15: 88,664,990 (GRCm39)	P353S	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zwilch	A	T	9: 64,063,316 (GRCm39)	F286I	probably benign	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
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'- ACCTGAAGACAATGCAATAGAGATC -3'
(R):5'- AGCTGAGGTTTCCATTGCCG -3'

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

Posted On

2015-03-25