Mutagenetix > Incidental Mutation

Incidental Mutation 'R1885:Xrn2'

209413

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

039906-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R1885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 147049361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 697 (L697*)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably null
Transcript: ENSMUST00000028921
AA Change: L697*

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: L697*

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: 97.0%
3x: 96.1%
10x: 92.7%
20x: 85.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,393,610	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,411,401	T278A	probably benign	Het
Acox2	C	T	14: 8,248,102	M393I	probably benign	Het
Adcy10	A	G	1: 165,570,808	I1491M	probably benign	Het
Adcy3	T	A	12: 4,134,951	V209E	probably damaging	Het
Adora3	A	C	3: 105,904,836	N13H	possibly damaging	Het
Ap2b1	T	A	11: 83,390,735	N822K	probably damaging	Het
Apobec3	A	T	15: 79,897,705	H82L	probably damaging	Het
Atg9b	A	T	5: 24,388,254	W384R	probably damaging	Het
Atp8a1	A	G	5: 67,747,318	V506A	possibly damaging	Het
Atxn1	G	T	13: 45,567,804	A205D	probably benign	Het
AU022751	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 6,082,591		probably benign	Het
B4galnt3	T	C	6: 120,223,640	E223G	probably damaging	Het
Brip1	C	A	11: 86,138,815	G631V	probably damaging	Het
C530008M17Rik	A	G	5: 76,856,742	T317A	unknown	Het
Cacna1i	A	G	15: 80,358,944	E434G	probably damaging	Het
Caprin2	A	T	6: 148,877,885		probably null	Het
Ccdc80	A	C	16: 45,096,720	D613A	probably benign	Het
Ccdc81	T	C	7: 89,866,611	E620G	possibly damaging	Het
Cebpz	A	T	17: 78,932,116	D625E	probably benign	Het
Coq6	C	A	12: 84,372,464	N388K	probably damaging	Het
D430041D05Rik	T	C	2: 104,230,455	M1365V	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dap3	A	G	3: 88,930,974	L86P	probably damaging	Het
Dpysl4	T	G	7: 139,096,807	V391G	probably damaging	Het
Dyrk4	G	T	6: 126,877,181	Q550K	probably benign	Het
Epas1	A	G	17: 86,805,295	D107G	probably damaging	Het
Esrp2	A	G	8: 106,131,821	V636A	possibly damaging	Het
Etl4	T	A	2: 20,743,984	Y176N	probably damaging	Het
Etnppl	T	C	3: 130,629,462	V264A	probably benign	Het
Fer	T	A	17: 64,138,914	V790D	probably damaging	Het
Gdpd5	G	A	7: 99,459,997	V575I	probably benign	Het
Gif	G	A	19: 11,752,324	A216T	probably benign	Het
Gipc3	T	C	10: 81,341,347	I130V	probably benign	Het
Gm281	A	C	14: 13,828,607	Y718D	probably damaging	Het
Iqsec3	G	A	6: 121,428,367		probably benign	Het
Kdm5d	G	T	Y: 940,781		probably null	Het
Kl	A	G	5: 150,953,494	R260G	possibly damaging	Het
Kras	T	C	6: 145,232,117	E143G	probably damaging	Het
Ksr1	C	A	11: 79,020,378	V11F	probably null	Het
Ksr1	T	C	11: 79,036,521	T329A	probably damaging	Het
March6	A	G	15: 31,502,806	V83A	probably benign	Het
Mettl2	T	C	11: 105,131,620	I212T	possibly damaging	Het
Mgat3	A	G	15: 80,211,619	I216V	probably benign	Het
Mkrn3	G	A	7: 62,418,738	A435V	probably benign	Het
Mlh1	C	A	9: 111,258,556	S24I	probably benign	Het
Mmel1	G	A	4: 154,890,876	R424Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,234	Q86*	probably null	Het
Myh3	A	G	11: 67,086,627	K368E	probably benign	Het
Myo16	T	A	8: 10,322,656	N118K	probably damaging	Het
Myo5c	A	G	9: 75,249,761	S160G	probably damaging	Het
Nat1	A	T	8: 67,491,001	I13F	probably damaging	Het
Ncoa7	T	C	10: 30,648,452	N823S	possibly damaging	Het
Nwd1	T	C	8: 72,704,994	S1207P	probably benign	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Olfr1390	T	C	11: 49,340,835	L101P	probably damaging	Het
Olfr153	T	C	2: 87,532,824	S264P	probably damaging	Het
Olfr480	T	C	7: 108,066,778	N7D	probably benign	Het
Paqr8	A	T	1: 20,935,480	H286L	probably damaging	Het
Pdzd4	G	A	X: 73,795,446	R419C	probably damaging	Het
Pes1	A	G	11: 3,969,482	K52E	probably damaging	Het
Ppp1r13l	T	C	7: 19,377,571	S774P	probably damaging	Het
Robo2	T	C	16: 73,916,145	D1283G	probably benign	Het
Rp1l1	T	C	14: 64,028,390	V475A	probably benign	Het
Scml4	A	G	10: 42,912,227	Y51C	probably damaging	Het
Slc2a4	C	T	11: 69,945,007	V339I	probably benign	Het
Slc39a6	G	A	18: 24,601,482		probably null	Het
Slco1b2	A	T	6: 141,683,225	Y551F	probably damaging	Het
Snx33	T	C	9: 56,925,837	H316R	probably benign	Het
Spata31d1a	T	G	13: 59,702,007	D769A	probably damaging	Het
Stmn2	A	T	3: 8,541,904	E28V	probably damaging	Het
Syt9	A	G	7: 107,436,529	D251G	probably damaging	Het
Tjap1	T	C	17: 46,262,421	T37A	probably damaging	Het
Tmc7	A	T	7: 118,561,087	F176I	possibly damaging	Het
Tprg	A	G	16: 25,412,891	T206A	probably benign	Het
Tsta3	G	T	15: 75,926,989	T123N	possibly damaging	Het
Ttc37	A	T	13: 76,113,047	R112S	probably benign	Het
Ttc37	A	G	13: 76,130,235	Q556R	probably benign	Het
Ubqlnl	A	T	7: 104,150,065	M75K	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Vmn2r12	C	T	5: 109,092,076	G207E	probably damaging	Het
Zfp764	A	G	7: 127,405,039	F307L	probably benign	Het
Zfp804b	T	C	5: 6,770,376	R860G	probably damaging	Het
Zranb2	A	T	3: 157,543,156		probably null	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
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
R3772: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'- CAGTGTTGTGCTGCATTAGTCTT -3'
(R):5'- CACATCAACTGGCTGTGGG -3'

Sequencing Primer
(F):5'- CTGCATTAGTCTTAGGGTATAGATGC -3'
(R):5'- GGCAGTCTACTGAGGATTCATACC -3'

Posted On

2014-06-30