Incidental Mutation 'R6705:Xrn2'
ID 528886
Institutional Source Beutler Lab
Gene Symbol Xrn2
Ensembl Gene ENSMUSG00000027433
Gene Name 5'-3' exoribonuclease 2
Synonyms
MMRRC Submission 044823-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R6705 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 146854916-146919920 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 146878582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028921]
AlphaFold Q9DBR1
Predicted Effect probably null
Transcript: ENSMUST00000028921
SMART Domains Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433

DomainStartEndE-ValueType
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: ENSMUST00000147057
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (44/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,204,253 (GRCm39) T46I probably benign Het
Afdn G A 17: 14,108,283 (GRCm39) V1269I probably benign Het
Aldh5a1 A T 13: 25,096,253 (GRCm39) N448K probably damaging Het
Cant1 G T 11: 118,298,698 (GRCm39) T355K probably damaging Het
Ccn2 T A 10: 24,471,853 (GRCm39) L25Q probably damaging Het
Comp C A 8: 70,829,387 (GRCm39) N321K probably damaging Het
D1Pas1 G T 1: 186,700,576 (GRCm39) E168D probably benign Het
Ddx23 G A 15: 98,550,849 (GRCm39) R111* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin2 T A 8: 27,526,468 (GRCm39) L276Q probably damaging Het
Etaa1 T C 11: 17,895,639 (GRCm39) N826S probably benign Het
Fam168b A T 1: 34,867,864 (GRCm39) N45K probably damaging Het
Gas2l2 G A 11: 83,313,462 (GRCm39) R617* probably null Het
Gtf3c2 C A 5: 31,323,352 (GRCm39) C533F possibly damaging Het
Hdac5 T C 11: 102,092,062 (GRCm39) T676A probably damaging Het
Helb A G 10: 119,925,716 (GRCm39) probably null Het
Igkv3-7 A T 6: 70,585,004 (GRCm39) S95C probably benign Het
Kdm3b A G 18: 34,952,926 (GRCm39) I899V probably damaging Het
Lgr5 G A 10: 115,423,193 (GRCm39) S69F probably damaging Het
Lrrc55 A T 2: 85,026,699 (GRCm39) D108E probably benign Het
Mphosph9 T C 5: 124,429,027 (GRCm39) N667S possibly damaging Het
Myf6 C T 10: 107,329,690 (GRCm39) V198M possibly damaging Het
Nav2 T C 7: 49,201,664 (GRCm39) S1413P probably damaging Het
Nfe2l1 A C 11: 96,718,451 (GRCm39) V28G probably damaging Het
Nup210 G T 6: 91,064,942 (GRCm39) T186K possibly damaging Het
Or13a18 T A 7: 140,190,697 (GRCm39) M206K probably damaging Het
Or6c1b G A 10: 129,272,941 (GRCm39) D87N probably benign Het
Or8b12 T A 9: 37,658,030 (GRCm39) I200N possibly damaging Het
Or8b4 T A 9: 37,830,080 (GRCm39) N42K probably damaging Het
Ppfia1 G A 7: 144,072,911 (GRCm39) T301M possibly damaging Het
Ppp1r14c A T 10: 3,316,890 (GRCm39) Y75F probably damaging Het
Ppp1r3g C A 13: 36,152,880 (GRCm39) A100E probably benign Het
Rictor A G 15: 6,823,493 (GRCm39) T1557A probably benign Het
Shc1 C T 3: 89,330,266 (GRCm39) R67* probably null Het
Skint10 A T 4: 112,630,301 (GRCm39) probably benign Het
Slk A G 19: 47,597,498 (GRCm39) N102S probably benign Het
Tbc1d5 T C 17: 51,332,203 (GRCm39) probably benign Het
Tiam2 G A 17: 3,568,518 (GRCm39) V1555I probably benign Het
Vmn1r174 C A 7: 23,453,851 (GRCm39) S172R probably benign Het
Vps39 A T 2: 120,151,157 (GRCm39) N823K probably benign Het
Wdr27 A T 17: 15,154,852 (GRCm39) Y22N probably damaging Het
Zbp1 A T 2: 173,055,680 (GRCm39) C161* probably null Het
Zfp236 T A 18: 82,651,862 (GRCm39) E821V probably damaging Het
Other mutations in Xrn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ATTGCATTTGGCTTCAAGAGGAC -3'
(R):5'- TGTTCATCACCCAACGTCAC -3'

Sequencing Primer
(F):5'- ACAGGCTTGTCTACAGCTG -3'
(R):5'- CGTCACACAGAAGTAGTAAGCC -3'
Posted On 2018-07-24