Incidental Mutation 'IGL02941:Xrn2'
ID 364498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xrn2
Ensembl Gene ENSMUSG00000027433
Gene Name 5'-3' exoribonuclease 2
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02941
Quality Score
Status
Chromosome 2
Chromosomal Location 146854916-146919920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146868444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 166 (F166I)
Ref Sequence ENSEMBL: ENSMUSP00000028921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028921]
AlphaFold Q9DBR1
Predicted Effect probably damaging
Transcript: ENSMUST00000028921
AA Change: F166I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: F166I

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik G A 7: 50,249,284 (GRCm39) R106Q probably damaging Het
Amhr2 T C 15: 102,355,724 (GRCm39) V223A probably damaging Het
Aqr T A 2: 113,943,835 (GRCm39) H1101L probably damaging Het
Arnt T A 3: 95,367,681 (GRCm39) probably benign Het
Cacnb2 G A 2: 14,963,640 (GRCm39) V85I probably benign Het
Cast A T 13: 74,848,806 (GRCm39) D727E probably damaging Het
Ccdc134 C T 15: 82,025,151 (GRCm39) R217W probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Col5a3 A G 9: 20,715,962 (GRCm39) S360P unknown Het
Cyp4f16 T C 17: 32,756,061 (GRCm39) I30T possibly damaging Het
Dop1b T C 16: 93,552,361 (GRCm39) F267L probably benign Het
Fbxo3 A G 2: 103,880,639 (GRCm39) T250A probably damaging Het
Gm4953 C T 1: 158,995,963 (GRCm39) noncoding transcript Het
Gm9242 T C 16: 97,292,279 (GRCm39) probably benign Het
Gsr G A 8: 34,179,453 (GRCm39) V354I probably damaging Het
H2bc21 A G 3: 96,128,732 (GRCm39) Y84C possibly damaging Het
Hecw1 T A 13: 14,552,311 (GRCm39) D96V probably damaging Het
Il18r1 A G 1: 40,537,711 (GRCm39) Y492C probably damaging Het
Itgb5 T G 16: 33,764,465 (GRCm39) probably benign Het
Lars2 T G 9: 123,288,650 (GRCm39) L832R probably damaging Het
Ms4a6c A G 19: 11,448,466 (GRCm39) probably benign Het
Nrxn1 T C 17: 90,515,811 (GRCm39) S1227G probably damaging Het
Or1j11 T C 2: 36,312,132 (GRCm39) C241R probably damaging Het
Or2c1 T C 16: 3,657,680 (GRCm39) V281A possibly damaging Het
Or52r1c A G 7: 102,735,528 (GRCm39) T263A probably benign Het
Pcdh17 A G 14: 84,685,747 (GRCm39) Y738C probably damaging Het
Pcsk5 C A 19: 17,424,865 (GRCm39) C1646F probably damaging Het
Pirb A G 7: 3,720,377 (GRCm39) V332A probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polrmt A T 10: 79,573,092 (GRCm39) probably benign Het
Saxo1 G T 4: 86,363,821 (GRCm39) R221S probably damaging Het
Specc1l A G 10: 75,077,022 (GRCm39) I93V probably benign Het
St8sia2 T A 7: 73,626,397 (GRCm39) probably benign Het
Tep1 A T 14: 51,103,494 (GRCm39) N265K probably damaging Het
Thbd A T 2: 148,248,954 (GRCm39) Y305N probably damaging Het
Tmem120a T C 5: 135,764,605 (GRCm39) T325A probably damaging Het
Vill G A 9: 118,895,955 (GRCm39) probably benign Het
Wdr35 A G 12: 9,077,507 (GRCm39) D1060G probably damaging Het
Zc3h7a T G 16: 10,976,458 (GRCm39) probably null Het
Zdhhc13 G A 7: 48,466,886 (GRCm39) probably benign Het
Zfp808 T A 13: 62,320,944 (GRCm39) N724K possibly 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
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
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
Posted On 2015-12-18