Incidental Mutation 'R4650:Dis3l2'
ID 351193
Institutional Source Beutler Lab
Gene Symbol Dis3l2
Ensembl Gene ENSMUSG00000053333
Gene Name DIS3 like 3'-5' exoribonuclease 2
Synonyms 8030493P09Rik, 4930429A22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.357) question?
Stock # R4650 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 86631530-86977817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86918043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 550 (D550G)
Ref Sequence ENSEMBL: ENSMUSP00000070506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065694] [ENSMUST00000168237] [ENSMUST00000190618]
AlphaFold Q8CI75
PDB Structure Structure of mouse Dis3L2 in complex with oligoU RNA substrate [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065694
AA Change: D550G

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: D550G

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
RNB 369 719 8.9e-140 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168237
AA Change: D564G

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: D564G

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
RNB 383 733 8.9e-140 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185304
Predicted Effect probably benign
Transcript: ENSMUST00000190618
SMART Domains Protein: ENSMUSP00000139579
Gene: ENSMUSG00000053333

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
PDB:2VNU|D 50 123 4e-10 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195266
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik T A 16: 88,860,603 (GRCm39) Y77F unknown Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Aldoa A G 7: 126,396,879 (GRCm39) S71P possibly damaging Het
Arhgef12 A G 9: 42,893,266 (GRCm39) V979A probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Brd8 T C 18: 34,739,752 (GRCm39) T674A probably benign Het
Cacna1d C T 14: 29,817,365 (GRCm39) M1232I probably benign Het
Capza1 A G 3: 104,752,296 (GRCm39) V14A probably damaging Het
Cdk2 A T 10: 128,538,364 (GRCm39) I135N probably damaging Het
Celf4 A T 18: 25,629,302 (GRCm39) M407K possibly damaging Het
Cenpf A T 1: 189,392,235 (GRCm39) D532E probably benign Het
Cideb A G 14: 55,992,688 (GRCm39) V76A possibly damaging Het
Dbpht2 C G 12: 74,345,933 (GRCm39) noncoding transcript Het
Dnah1 A T 14: 31,006,844 (GRCm39) probably null Het
Edc4 T A 8: 106,619,307 (GRCm39) L1293* probably null Het
Elp5 A G 11: 69,860,398 (GRCm39) V203A possibly damaging Het
Fndc7 T C 3: 108,770,135 (GRCm39) N597S probably benign Het
Gjb3 T C 4: 127,220,484 (GRCm39) Y16C probably damaging Het
Gm5773 A G 3: 93,680,712 (GRCm39) D128G probably benign Het
Gnb1l T C 16: 18,363,025 (GRCm39) probably null Het
Gon4l G A 3: 88,770,859 (GRCm39) D514N possibly damaging Het
Grhl3 T A 4: 135,276,547 (GRCm39) probably null Het
Hoxc10 T C 15: 102,875,698 (GRCm39) S136P probably benign Het
Ift22 G A 5: 136,940,655 (GRCm39) V107I probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Lgi4 G A 7: 30,768,554 (GRCm39) A518T probably benign Het
Lhx2 T A 2: 38,250,052 (GRCm39) N290K probably damaging Het
Ltbp4 A T 7: 27,013,734 (GRCm39) C1092S probably damaging Het
Macf1 T C 4: 123,367,412 (GRCm39) I2450V probably benign Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Myb A G 10: 21,028,840 (GRCm39) L86P probably damaging Het
Myh3 C T 11: 66,977,270 (GRCm39) T333M probably damaging Het
Nek11 T C 9: 105,225,279 (GRCm39) N78D possibly damaging Het
Nmi C A 2: 51,838,646 (GRCm39) C296F probably benign Het
Nphs1 A T 7: 30,181,895 (GRCm39) T1163S probably benign Het
Npy4r C T 14: 33,868,181 (GRCm39) G369D possibly damaging Het
Ola1 T C 2: 72,972,309 (GRCm39) T221A probably damaging Het
Or51d1 A G 7: 102,348,027 (GRCm39) D194G probably damaging Het
Or8c11 T C 9: 38,289,699 (GRCm39) F168S probably damaging Het
Pfkfb2 A T 1: 130,633,200 (GRCm39) N184K possibly damaging Het
Plce1 T C 19: 38,513,088 (GRCm39) V129A probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Pth A T 7: 112,985,026 (GRCm39) *116K probably null Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rwdd3 A G 3: 120,952,826 (GRCm39) F55S probably damaging Het
Serpinb9d A T 13: 33,386,836 (GRCm39) L301F probably benign Het
Slc35e4 A G 11: 3,862,677 (GRCm39) C171R probably damaging Het
Slco1a4 A T 6: 141,758,424 (GRCm39) I529K possibly damaging Het
Styk1 A T 6: 131,277,532 (GRCm39) W370R probably damaging Het
Tmprss11e C A 5: 86,875,212 (GRCm39) W18L probably damaging Het
Trpv1 A C 11: 73,129,089 (GRCm39) E2A probably benign Het
Unc13b T A 4: 43,261,035 (GRCm39) I1799N probably damaging Het
Vmn1r213 G A 13: 23,196,422 (GRCm39) C335Y possibly damaging Het
Vps37c C T 19: 10,690,273 (GRCm39) S245L probably benign Het
Wrn T C 8: 33,745,537 (GRCm39) T1191A probably benign Het
Zfp13 A G 17: 23,799,112 (GRCm39) L153P probably damaging Het
Zfp472 T G 17: 33,196,631 (GRCm39) S235R possibly damaging Het
Other mutations in Dis3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Dis3l2 APN 1 86,784,925 (GRCm39) missense probably benign 0.00
IGL01607:Dis3l2 APN 1 86,673,209 (GRCm39) missense probably benign 0.04
IGL02233:Dis3l2 APN 1 86,917,953 (GRCm39) missense probably damaging 1.00
IGL02698:Dis3l2 APN 1 86,976,551 (GRCm39) splice site probably benign
R0514:Dis3l2 UTSW 1 86,974,814 (GRCm39) missense probably damaging 1.00
R0893:Dis3l2 UTSW 1 86,971,928 (GRCm39) splice site probably null
R1086:Dis3l2 UTSW 1 86,917,871 (GRCm39) missense probably benign 0.36
R1140:Dis3l2 UTSW 1 86,749,160 (GRCm39) missense probably benign 0.00
R1509:Dis3l2 UTSW 1 86,948,808 (GRCm39) missense possibly damaging 0.91
R2029:Dis3l2 UTSW 1 86,782,189 (GRCm39) splice site probably benign
R2511:Dis3l2 UTSW 1 86,917,980 (GRCm39) missense probably benign 0.05
R3772:Dis3l2 UTSW 1 86,782,130 (GRCm39) missense probably benign
R4163:Dis3l2 UTSW 1 86,748,959 (GRCm39) missense probably benign 0.00
R4547:Dis3l2 UTSW 1 86,977,393 (GRCm39) missense probably benign 0.00
R4548:Dis3l2 UTSW 1 86,977,393 (GRCm39) missense probably benign 0.00
R4810:Dis3l2 UTSW 1 86,975,296 (GRCm39) missense probably damaging 0.99
R4936:Dis3l2 UTSW 1 86,971,890 (GRCm39) missense probably benign 0.00
R5010:Dis3l2 UTSW 1 86,688,043 (GRCm39) missense probably benign 0.21
R5040:Dis3l2 UTSW 1 86,785,059 (GRCm39) missense probably damaging 0.98
R5272:Dis3l2 UTSW 1 86,901,126 (GRCm39) missense possibly damaging 0.72
R5500:Dis3l2 UTSW 1 86,948,841 (GRCm39) critical splice donor site probably null
R5556:Dis3l2 UTSW 1 86,901,126 (GRCm39) missense possibly damaging 0.72
R5772:Dis3l2 UTSW 1 86,806,154 (GRCm39) missense probably damaging 1.00
R5808:Dis3l2 UTSW 1 86,977,360 (GRCm39) missense possibly damaging 0.94
R5950:Dis3l2 UTSW 1 86,948,830 (GRCm39) missense probably damaging 0.96
R6328:Dis3l2 UTSW 1 86,782,153 (GRCm39) missense probably benign 0.05
R6553:Dis3l2 UTSW 1 86,673,216 (GRCm39) missense probably damaging 1.00
R6585:Dis3l2 UTSW 1 86,673,216 (GRCm39) missense probably damaging 1.00
R6905:Dis3l2 UTSW 1 86,972,561 (GRCm39) missense probably benign 0.00
R6921:Dis3l2 UTSW 1 86,785,063 (GRCm39) missense probably benign
R7162:Dis3l2 UTSW 1 86,971,752 (GRCm39) missense possibly damaging 0.94
R7270:Dis3l2 UTSW 1 86,918,025 (GRCm39) missense possibly damaging 0.49
R7438:Dis3l2 UTSW 1 86,673,222 (GRCm39) critical splice donor site probably null
R8422:Dis3l2 UTSW 1 86,782,099 (GRCm39) missense probably benign
R8696:Dis3l2 UTSW 1 86,719,162 (GRCm39) nonsense probably null
R9235:Dis3l2 UTSW 1 86,749,061 (GRCm39) missense possibly damaging 0.95
R9291:Dis3l2 UTSW 1 86,901,215 (GRCm39) missense possibly damaging 0.82
R9629:Dis3l2 UTSW 1 86,974,784 (GRCm39) missense probably benign 0.00
X0027:Dis3l2 UTSW 1 86,688,073 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CCGTTCTTGCACCAAACTGAG -3'
(R):5'- CAGGTTTTCCAGGTAAGAGCAG -3'

Sequencing Primer
(F):5'- GTTCTTGCACCAAACTGAGCTACG -3'
(R):5'- CAGCTGGGAGTCACAGAACTC -3'
Posted On 2015-10-08