Incidental Mutation 'R6316:Xrn2'
ID 509973
Institutional Source Beutler Lab
Gene Symbol Xrn2
Ensembl Gene ENSMUSG00000027433
Gene Name 5'-3' exoribonuclease 2
Synonyms
MMRRC Submission 044416-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R6316 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 146854916-146919920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146883930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 563 (Y563C)
Ref Sequence ENSEMBL: ENSMUSP00000028921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028921]
AlphaFold Q9DBR1
Predicted Effect probably damaging
Transcript: ENSMUST00000028921
AA Change: Y563C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: Y563C

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: ENSMUST00000136136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147057
Meta Mutation Damage Score 0.8768 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency 97% (38/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,118 (GRCm39) T775A probably benign Het
Adam6a A T 12: 113,509,196 (GRCm39) N523I probably benign Het
Adgrv1 T C 13: 81,647,187 (GRCm39) T3118A possibly damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Asxl3 A G 18: 22,655,839 (GRCm39) Y1283C probably damaging Het
Btbd2 T A 10: 80,480,612 (GRCm39) I319F probably damaging Het
Eno4 G A 19: 58,948,723 (GRCm39) probably null Het
Glis2 T A 16: 4,431,700 (GRCm39) probably benign Het
Grin2b A T 6: 135,757,277 (GRCm39) C395S probably benign Het
H1f8 T C 6: 115,925,876 (GRCm39) probably null Het
Kansl1l T A 1: 66,774,744 (GRCm39) Y694F probably benign Het
Kcnj1 A T 9: 32,308,632 (GRCm39) E332V probably damaging Het
Klhdc7a T C 4: 139,694,113 (GRCm39) E278G probably benign Het
Krt33a T C 11: 99,905,027 (GRCm39) N160D probably damaging Het
Ksr2 A G 5: 117,823,567 (GRCm39) N448S probably damaging Het
Lpar6 A G 14: 73,476,774 (GRCm39) Y245C probably damaging Het
Magel2 T C 7: 62,028,467 (GRCm39) I457T possibly damaging Het
Manf A G 9: 106,766,385 (GRCm39) L132P probably damaging Het
Moxd2 T C 6: 40,860,481 (GRCm39) D321G probably damaging Het
Mtmr12 T A 15: 12,236,199 (GRCm39) C153S probably null Het
Muc16 T C 9: 18,553,115 (GRCm39) T4393A probably benign Het
Notch3 T C 17: 32,356,787 (GRCm39) probably null Het
Or9e1 A G 11: 58,732,768 (GRCm39) Y276C probably damaging Het
Pirb T A 7: 3,720,822 (GRCm39) K225N probably damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Rilpl2 A G 5: 124,615,943 (GRCm39) V69A probably damaging Het
Smdt1 T C 15: 82,232,210 (GRCm39) V99A probably damaging Het
Smpd1 T C 7: 105,204,709 (GRCm39) V196A probably benign Het
Supt20 TCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCAGCA 3: 54,635,069 (GRCm39) probably benign Het
Tcte1 A G 17: 45,845,786 (GRCm39) H130R probably benign Het
Tead1 C A 7: 112,491,046 (GRCm39) Q296K probably damaging Het
Thoc2l G C 5: 104,667,595 (GRCm39) G706R probably damaging Het
Tmem163 C T 1: 127,479,102 (GRCm39) S139N probably benign Het
Tor1aip2 G T 1: 155,937,840 (GRCm39) D192Y probably damaging Het
Trgv2 G A 13: 19,520,912 (GRCm39) Q61* probably null Het
Trib1 T C 15: 59,521,264 (GRCm39) S85P probably benign Het
Trrap T A 5: 144,750,336 (GRCm39) N1581K probably benign Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign 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
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'- ACCACTGATATGAAGCAGACAG -3'
(R):5'- ACTTGCAGCTGGGAAAACC -3'

Sequencing Primer
(F):5'- ATGAGTGGAGTATATGCCA -3'
(R):5'- GAAAACCCCCATTAGTTGTTCCAGTG -3'
Posted On 2018-04-02