Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Xrn2'

60754

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

038455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R0196 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

146854916-146919920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146889580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 654 (D654E)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028921
AA Change: D654E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: D654E

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: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,446,591 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,109,519 (GRCm39)	P317L	probably damaging	Het
Abca12	T	A	1: 71,298,972 (GRCm39)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,594 (GRCm39)	I46T	probably benign	Het
Adipoq	T	G	16: 22,965,393 (GRCm39)		probably null	Het
Amy1	A	T	3: 113,363,070 (GRCm39)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,392 (GRCm39)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,363,239 (GRCm39)	G693A	probably damaging	Het
Birc6	T	C	17: 74,887,282 (GRCm39)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,766,463 (GRCm39)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,076 (GRCm39)	Q525R	possibly damaging	Het
Cd4	T	C	6: 124,844,769 (GRCm39)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,917,066 (GRCm39)	S350P	probably damaging	Het
Cep295	A	T	9: 15,249,509 (GRCm39)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,127,342 (GRCm39)	S279T	probably benign	Het
Clnk	T	A	5: 38,927,282 (GRCm39)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,142,503 (GRCm39)	T64S	probably benign	Het
Crtc1	T	C	8: 70,838,871 (GRCm39)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,000,795 (GRCm39)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,911,139 (GRCm39)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,348,553 (GRCm39)	I716F	probably damaging	Het
Dsel	T	G	1: 111,789,333 (GRCm39)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,861,746 (GRCm39)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,036,804 (GRCm39)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,768,070 (GRCm39)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,503,786 (GRCm39)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm39)	L6H	probably benign	Het
Grb10	A	C	11: 11,895,583 (GRCm39)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,090,514 (GRCm39)		probably null	Het
Hars2	C	T	18: 36,922,257 (GRCm39)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,220 (GRCm39)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,461,556 (GRCm39)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,209,540 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,450 (GRCm39)	S119P	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,754,636 (GRCm39)	V137A	probably benign	Het
Macrod2	A	T	2: 142,018,545 (GRCm39)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,718,201 (GRCm39)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,265,453 (GRCm39)	K82M	probably benign	Het
Mpzl3	A	G	9: 44,973,458 (GRCm39)	T66A	probably damaging	Het
Msh6	G	A	17: 88,287,788 (GRCm39)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,815,684 (GRCm39)		probably null	Het
Ncr1	G	T	7: 4,343,972 (GRCm39)	C153F	probably damaging	Het
Nf1	T	A	11: 79,359,595 (GRCm39)	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,469,098 (GRCm39)	V786D	probably damaging	Het
Nisch	T	C	14: 30,925,351 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,694 (GRCm39)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or1e32	A	T	11: 73,705,731 (GRCm39)	M59K	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Oxa1l	T	C	14: 54,600,944 (GRCm39)	I139T	probably damaging	Het
P3h3	T	A	6: 124,822,235 (GRCm39)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,711,147 (GRCm39)		probably null	Het
Pcnp	C	T	16: 55,844,896 (GRCm39)		probably benign	Het
Pdzd8	G	T	19: 59,289,563 (GRCm39)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,906,261 (GRCm39)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,295,231 (GRCm39)	V1454G	possibly damaging	Het
Podn	T	C	4: 107,878,695 (GRCm39)	N246D	probably damaging	Het
Prg4	T	C	1: 150,330,243 (GRCm39)		probably benign	Het
R3hdm2	T	C	10: 127,320,390 (GRCm39)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,213,904 (GRCm39)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 39,932,611 (GRCm39)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,560,078 (GRCm39)	I435F	probably damaging	Het
Snx19	A	G	9: 30,344,683 (GRCm39)	D629G	probably damaging	Het
Tomm70a	T	C	16: 56,966,463 (GRCm39)	I472T	probably benign	Het
Trp53	A	G	11: 69,479,506 (GRCm39)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,863,403 (GRCm39)		probably benign	Het
Ugt1a1	C	T	1: 88,140,277 (GRCm39)	A185V	possibly damaging	Het
Usp28	A	G	9: 48,939,578 (GRCm39)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,260,254 (GRCm39)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 123,041,879 (GRCm39)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,614,835 (GRCm39)	N852D	probably benign	Het
Yju2	C	A	17: 56,271,653 (GRCm39)	D191E	probably damaging	Het
Zfp335	C	G	2: 164,738,065 (GRCm39)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,118,390 (GRCm39)	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,355,052 (GRCm39)	T350A	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
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
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'- AGTTGGCCTGAGGGCATTAGTAAGG -3'
(R):5'- tgccaccaaagcccagATGAACTG -3'

Sequencing Primer
(F):5'- CATTAGTAAGGTGATAGCACTGC -3'
(R):5'- ccaaagcccagATGAACTGTTAATC -3'

Posted On

2013-07-24