Incidental Mutation 'R8184:Sirt2'
ID 634770
Institutional Source Beutler Lab
Gene Symbol Sirt2
Ensembl Gene ENSMUSG00000015149
Gene Name sirtuin 2
Synonyms Sir2l, SIR2L2, 5730427M03Rik
MMRRC Submission 067607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8184 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 28466192-28488086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28487191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 318 (V318M)
Ref Sequence ENSEMBL: ENSMUSP00000072732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059857] [ENSMUST00000072965] [ENSMUST00000122915] [ENSMUST00000155327] [ENSMUST00000170068] [ENSMUST00000209035]
AlphaFold Q8VDQ8
Predicted Effect probably benign
Transcript: ENSMUST00000059857
SMART Domains Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735

DomainStartEndE-ValueType
Blast:SH2 50 132 2e-38 BLAST
SCOP:d1lkka_ 69 143 3e-3 SMART
low complexity region 183 196 N/A INTRINSIC
low complexity region 376 395 N/A INTRINSIC
Pfam:VPS9 410 514 2.5e-21 PFAM
low complexity region 542 553 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000072965
AA Change: V318M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149
AA Change: V318M

DomainStartEndE-ValueType
low complexity region 22 37 N/A INTRINSIC
Pfam:SIR2 84 268 2.6e-60 PFAM
low complexity region 297 307 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122915
AA Change: V281M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000155327
AA Change: V281M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000170068
AA Change: V248M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132783
Gene: ENSMUSG00000015149
AA Change: V248M

DomainStartEndE-ValueType
Pfam:SIR2 14 198 3.8e-61 PFAM
low complexity region 227 237 N/A INTRINSIC
low complexity region 303 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209035
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a floxed allele activated in Schwann cells exhibit delayed myelination during development and following a nerve crush injury. Mice homozygous for a knock-out allele exhibit increased tumor formation and abnormal mitosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T C 2: 93,686,086 (GRCm39) K577R probably benign Het
Baiap3 A G 17: 25,467,499 (GRCm39) S368P probably benign Het
Brf2 T C 8: 27,614,013 (GRCm39) E391G possibly damaging Het
Casr T A 16: 36,330,108 (GRCm39) M409L probably benign Het
Ccdc83 G T 7: 89,873,286 (GRCm39) Y356* probably null Het
Clec10a A T 11: 70,060,642 (GRCm39) N166Y probably damaging Het
Copg1 T C 6: 87,866,996 (GRCm39) F77S probably damaging Het
Dnah7a T G 1: 53,666,194 (GRCm39) K611T probably benign Het
Dock10 G A 1: 80,530,469 (GRCm39) H1025Y probably damaging Het
Dock6 A T 9: 21,741,596 (GRCm39) S876T possibly damaging Het
Dop1b G T 16: 93,573,881 (GRCm39) R1701L probably benign Het
Dus4l A G 12: 31,690,817 (GRCm39) F278S probably damaging Het
Fbxo43 C T 15: 36,162,485 (GRCm39) V241I possibly damaging Het
Gbx2 A T 1: 89,856,550 (GRCm39) I280N probably damaging Het
Gnai1 A G 5: 18,496,504 (GRCm39) F140L Het
Gne T C 4: 44,084,061 (GRCm39) Y13C probably benign Het
Heatr5b A T 17: 79,121,662 (GRCm39) S688T probably benign Het
Hectd2 T A 19: 36,581,754 (GRCm39) D431E possibly damaging Het
Hecw2 A G 1: 54,079,546 (GRCm39) S36P probably benign Het
Hpx A T 7: 105,241,352 (GRCm39) I353N probably damaging Het
Ints8 A T 4: 11,204,534 (GRCm39) V974E probably damaging Het
Jaml T A 9: 45,000,110 (GRCm39) L136Q probably damaging Het
Kazn A G 4: 141,845,441 (GRCm39) V381A probably benign Het
Krt79 T C 15: 101,838,187 (GRCm39) T523A unknown Het
Lrrc8e T G 8: 4,285,140 (GRCm39) L455R probably damaging Het
Mrps11 T C 7: 78,433,125 (GRCm39) S7P possibly damaging Het
Muc21 A G 17: 35,933,722 (GRCm39) S155P unknown Het
Neurl3 A G 1: 36,308,662 (GRCm39) F50S probably damaging Het
Nlgn1 T C 3: 25,490,363 (GRCm39) T455A probably damaging Het
Pbp2 T C 6: 135,287,260 (GRCm39) Y29C probably damaging Het
Pdcd11 T A 19: 47,101,791 (GRCm39) L992* probably null Het
Pla2g6 A G 15: 79,171,322 (GRCm39) I756T probably benign Het
Polm T A 11: 5,781,707 (GRCm39) D263V possibly damaging Het
Pspc1 T C 14: 57,001,700 (GRCm39) T225A probably benign Het
Rtca C A 3: 116,301,473 (GRCm39) A25S probably benign Het
Slc1a2 T A 2: 102,568,197 (GRCm39) I78K probably damaging Het
Slco3a1 A G 7: 74,009,577 (GRCm39) I246T probably benign Het
Smpd5 A G 15: 76,179,926 (GRCm39) E325G probably benign Het
Snw1 T C 12: 87,500,673 (GRCm39) E362G probably benign Het
Tmem63c A T 12: 87,108,328 (GRCm39) M114L possibly damaging Het
Trim24 T C 6: 37,848,242 (GRCm39) L66P probably damaging Het
Trpm3 T C 19: 22,896,060 (GRCm39) F966L possibly damaging Het
Ttn T C 2: 76,609,643 (GRCm39) I17588V probably benign Het
Vmn2r44 A T 7: 8,371,227 (GRCm39) C606* probably null Het
Vmn2r74 A T 7: 85,601,454 (GRCm39) V728E probably benign Het
Zfp503 T C 14: 22,036,019 (GRCm39) D299G possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Sirt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Sirt2 APN 7 28,478,371 (GRCm39) missense probably damaging 1.00
R1162:Sirt2 UTSW 7 28,485,247 (GRCm39) missense probably damaging 1.00
R2224:Sirt2 UTSW 7 28,471,637 (GRCm39) splice site probably null
R3548:Sirt2 UTSW 7 28,467,096 (GRCm39) missense probably damaging 0.99
R4744:Sirt2 UTSW 7 28,476,438 (GRCm39) missense probably damaging 1.00
R6219:Sirt2 UTSW 7 28,466,940 (GRCm39) intron probably benign
R6244:Sirt2 UTSW 7 28,487,222 (GRCm39) missense probably damaging 0.99
R6285:Sirt2 UTSW 7 28,487,471 (GRCm39) missense probably benign 0.10
R7677:Sirt2 UTSW 7 28,484,835 (GRCm39) missense probably damaging 1.00
R7768:Sirt2 UTSW 7 28,482,284 (GRCm39) missense probably benign
R8679:Sirt2 UTSW 7 28,471,261 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTCCTGGGCATGATGATG -3'
(R):5'- ACTTTCCAGGGGAGATGGTAG -3'

Sequencing Primer
(F):5'- CATGATGATGGGCCTGGGAG -3'
(R):5'- GGCATCTATGTTGGCATGCTCC -3'
Posted On 2020-07-13