Incidental Mutation 'R5272:Dis3l2'
ID 400375
Institutional Source Beutler Lab
Gene Symbol Dis3l2
Ensembl Gene ENSMUSG00000053333
Gene Name DIS3 like 3'-5' exoribonuclease 2
Synonyms 4930429A22Rik, 8030493P09Rik
MMRRC Submission 042836-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R5272 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 86703808-87050095 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86973404 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 439 (V439A)
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: V439A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: V439A

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: V453A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: V453A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A G 3: 32,718,610 (GRCm38) E245G probably damaging Het
Arsb A T 13: 93,794,162 (GRCm38) T213S possibly damaging Het
Cep152 G A 2: 125,611,030 (GRCm38) T374I probably benign Het
Crx C T 7: 15,868,285 (GRCm38) C156Y probably damaging Het
Csmd1 T A 8: 16,199,944 (GRCm38) T1007S probably damaging Het
Cyp19a1 A T 9: 54,176,614 (GRCm38) C164S probably benign Het
Ddx55 A T 5: 124,558,029 (GRCm38) I137F possibly damaging Het
Dgkg C A 16: 22,588,294 (GRCm38) probably null Het
Dicer1 A G 12: 104,704,240 (GRCm38) I1022T probably damaging Het
Dnah5 T C 15: 28,350,665 (GRCm38) V2611A probably benign Het
Dnah6 A G 6: 73,127,861 (GRCm38) probably null Het
Ercc6 A T 14: 32,519,028 (GRCm38) K170* probably null Het
Fibcd1 A T 2: 31,816,623 (GRCm38) C399S probably damaging Het
Fibcd1 G T 2: 31,816,624 (GRCm38) N398K probably damaging Het
Fnbp4 G A 2: 90,753,115 (GRCm38) M327I probably benign Het
Fryl A T 5: 73,065,136 (GRCm38) L256* probably null Het
Galr1 T A 18: 82,405,636 (GRCm38) Y172F probably benign Het
Gpi1 T C 7: 34,220,690 (GRCm38) N186S probably damaging Het
Kcnh8 A G 17: 52,905,015 (GRCm38) I614V probably damaging Het
Krt23 A T 11: 99,478,273 (GRCm38) I398N probably damaging Het
Mia3 G A 1: 183,328,270 (GRCm38) R656* probably null Het
Mup6 G C 4: 60,005,922 (GRCm38) G138A probably damaging Het
Nectin3 A G 16: 46,448,476 (GRCm38) V521A possibly damaging Het
Nhsl3 T C 4: 129,224,212 (GRCm38) T208A possibly damaging Het
Nphs1 A G 7: 30,481,642 (GRCm38) E1096G possibly damaging Het
Or8s5 G A 15: 98,340,365 (GRCm38) A208V probably benign Het
Panx1 C T 9: 15,044,856 (GRCm38) probably null Het
Pcdhb4 A G 18: 37,307,766 (GRCm38) Y43C probably benign Het
Plbd1 A G 6: 136,640,158 (GRCm38) Y62H probably damaging Het
Rab40b A G 11: 121,357,308 (GRCm38) V190A probably damaging Het
Ryr3 T C 2: 112,653,213 (GRCm38) E4063G probably damaging Het
Smlr1 T C 10: 25,536,027 (GRCm38) I21V probably benign Het
Tenm4 T A 7: 96,874,203 (GRCm38) Y1614N probably damaging Het
Tesmin C A 19: 3,406,992 (GRCm38) A257E probably damaging Het
Tgif1 A G 17: 70,846,254 (GRCm38) L34P probably damaging Het
Ticrr C A 7: 79,669,605 (GRCm38) T446K probably benign Het
Tmc7 A G 7: 118,561,053 (GRCm38) I187T probably benign Het
Tpst2 T A 5: 112,307,952 (GRCm38) V119E probably damaging Het
Trf A T 9: 103,227,978 (GRCm38) M45K probably damaging Het
Trim45 T C 3: 100,929,919 (GRCm38) C524R probably damaging Het
Ttc27 G A 17: 74,742,977 (GRCm38) V293I probably damaging Het
Ugt1a6b C T 1: 88,107,227 (GRCm38) R96C possibly damaging Het
Vit A G 17: 78,586,835 (GRCm38) Q222R probably benign Het
Zfp148 T A 16: 33,496,224 (GRCm38) V380D probably damaging Het
Other mutations in Dis3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Dis3l2 APN 1 86,857,203 (GRCm38) missense probably benign 0.00
IGL01607:Dis3l2 APN 1 86,745,487 (GRCm38) missense probably benign 0.04
IGL02233:Dis3l2 APN 1 86,990,231 (GRCm38) missense probably damaging 1.00
IGL02698:Dis3l2 APN 1 87,048,829 (GRCm38) splice site probably benign
R0514:Dis3l2 UTSW 1 87,047,092 (GRCm38) missense probably damaging 1.00
R0893:Dis3l2 UTSW 1 87,044,206 (GRCm38) splice site probably null
R1086:Dis3l2 UTSW 1 86,990,149 (GRCm38) missense probably benign 0.36
R1140:Dis3l2 UTSW 1 86,821,438 (GRCm38) missense probably benign 0.00
R1509:Dis3l2 UTSW 1 87,021,086 (GRCm38) missense possibly damaging 0.91
R2029:Dis3l2 UTSW 1 86,854,467 (GRCm38) splice site probably benign
R2511:Dis3l2 UTSW 1 86,990,258 (GRCm38) missense probably benign 0.05
R3772:Dis3l2 UTSW 1 86,854,408 (GRCm38) missense probably benign
R4163:Dis3l2 UTSW 1 86,821,237 (GRCm38) missense probably benign 0.00
R4547:Dis3l2 UTSW 1 87,049,671 (GRCm38) missense probably benign 0.00
R4548:Dis3l2 UTSW 1 87,049,671 (GRCm38) missense probably benign 0.00
R4650:Dis3l2 UTSW 1 86,990,321 (GRCm38) missense possibly damaging 0.83
R4810:Dis3l2 UTSW 1 87,047,574 (GRCm38) missense probably damaging 0.99
R4936:Dis3l2 UTSW 1 87,044,168 (GRCm38) missense probably benign 0.00
R5010:Dis3l2 UTSW 1 86,760,321 (GRCm38) missense probably benign 0.21
R5040:Dis3l2 UTSW 1 86,857,337 (GRCm38) missense probably damaging 0.98
R5500:Dis3l2 UTSW 1 87,021,119 (GRCm38) critical splice donor site probably null
R5556:Dis3l2 UTSW 1 86,973,404 (GRCm38) missense possibly damaging 0.72
R5772:Dis3l2 UTSW 1 86,878,432 (GRCm38) missense probably damaging 1.00
R5808:Dis3l2 UTSW 1 87,049,638 (GRCm38) missense possibly damaging 0.94
R5950:Dis3l2 UTSW 1 87,021,108 (GRCm38) missense probably damaging 0.96
R6328:Dis3l2 UTSW 1 86,854,431 (GRCm38) missense probably benign 0.05
R6553:Dis3l2 UTSW 1 86,745,494 (GRCm38) missense probably damaging 1.00
R6585:Dis3l2 UTSW 1 86,745,494 (GRCm38) missense probably damaging 1.00
R6905:Dis3l2 UTSW 1 87,044,839 (GRCm38) missense probably benign 0.00
R6921:Dis3l2 UTSW 1 86,857,341 (GRCm38) missense probably benign
R7162:Dis3l2 UTSW 1 87,044,030 (GRCm38) missense possibly damaging 0.94
R7270:Dis3l2 UTSW 1 86,990,303 (GRCm38) missense possibly damaging 0.49
R7438:Dis3l2 UTSW 1 86,745,500 (GRCm38) critical splice donor site probably null
R8422:Dis3l2 UTSW 1 86,854,377 (GRCm38) missense probably benign
R8696:Dis3l2 UTSW 1 86,791,440 (GRCm38) nonsense probably null
R9235:Dis3l2 UTSW 1 86,821,339 (GRCm38) missense possibly damaging 0.95
R9291:Dis3l2 UTSW 1 86,973,493 (GRCm38) missense possibly damaging 0.82
R9629:Dis3l2 UTSW 1 87,047,062 (GRCm38) missense probably benign 0.00
X0027:Dis3l2 UTSW 1 86,760,351 (GRCm38) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- ACAAACAGTGACAGTGTTTCTG -3'
(R):5'- CACGGTGCTTACCACAAGAG -3'

Sequencing Primer
(F):5'- TACTTCCCAGGCAGAGCTGAG -3'
(R):5'- CGGTGCTTACCACAAGAGATAGG -3'
Posted On 2016-07-06