Incidental Mutation 'R1162:Sirt2'
ID 100466
Institutional Source Beutler Lab
Gene Symbol Sirt2
Ensembl Gene ENSMUSG00000015149
Gene Name sirtuin 2
Synonyms Sir2l, SIR2L2, 5730427M03Rik
MMRRC Submission 039235-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1162 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28466192-28488086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28485247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 218 (D218V)
Ref Sequence ENSEMBL: ENSMUSP00000147217 (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: D255V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149
AA Change: D255V

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: D218V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132789
Predicted Effect probably damaging
Transcript: ENSMUST00000155327
AA Change: D218V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000170068
AA Change: D185V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132783
Gene: ENSMUSG00000015149
AA Change: D185V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207201
Meta Mutation Damage Score 0.9603 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency 98% (55/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T C 4: 156,206,875 (GRCm39) probably null Het
Adamts12 T A 15: 11,277,544 (GRCm39) probably null Het
Ccn3 T A 15: 54,611,178 (GRCm39) C104* probably null Het
Cops4 T C 5: 100,678,023 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dgkh A G 14: 78,861,891 (GRCm39) C125R probably damaging Het
Dgkz A T 2: 91,774,789 (GRCm39) I65N probably damaging Het
Dock10 T A 1: 80,546,559 (GRCm39) H743L possibly damaging Het
Dscaml1 T C 9: 45,663,647 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gbe1 A T 16: 70,178,738 (GRCm39) probably benign Het
Gm7275 A G 16: 47,894,395 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 35,002,905 (GRCm39) probably benign Het
Gpr137c A G 14: 45,481,615 (GRCm39) I144V possibly damaging Het
Igsf9b T C 9: 27,238,185 (GRCm39) S563P probably benign Het
Insl5 C T 4: 102,875,438 (GRCm39) R104Q probably benign Het
Kcnj2 T A 11: 110,963,793 (GRCm39) V395D probably benign Het
Ksr2 A G 5: 117,693,020 (GRCm39) probably benign Het
Lrrc4 C A 6: 28,831,083 (GRCm39) L177F probably damaging Het
Mapkbp1 A G 2: 119,855,799 (GRCm39) E1506G possibly damaging Het
Morc3 A C 16: 93,649,996 (GRCm39) Y259S probably damaging Het
Mrpl43 T G 19: 44,994,797 (GRCm39) S13R possibly damaging Het
Myh4 A G 11: 67,149,439 (GRCm39) N1724D probably damaging Het
Nab1 A G 1: 52,529,186 (GRCm39) M237T probably damaging Het
Nav2 A G 7: 49,185,788 (GRCm39) probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2h15 A T 17: 38,441,984 (GRCm39) V33D possibly damaging Het
Or5ac15 T C 16: 58,939,735 (GRCm39) R233G probably damaging Het
Or5p80 A G 7: 108,230,120 (GRCm39) N307S probably benign Het
Phf2 A T 13: 48,973,117 (GRCm39) probably benign Het
Ppef2 A C 5: 92,400,980 (GRCm39) F13L probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Sap130 C T 18: 31,781,226 (GRCm39) P130S probably damaging Het
Scn11a A G 9: 119,634,710 (GRCm39) probably benign Het
Sec31b C A 19: 44,506,087 (GRCm39) E940* probably null Het
Sgce A G 6: 4,691,419 (GRCm39) probably benign Het
Sh3glb2 A T 2: 30,240,600 (GRCm39) I155N probably damaging Het
Slc16a10 T C 10: 39,952,549 (GRCm39) H315R probably benign Het
Sox5 A G 6: 143,906,538 (GRCm39) Y306H probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tab2 A G 10: 7,800,483 (GRCm39) V23A probably damaging Het
Trak1 G T 9: 121,282,407 (GRCm39) V429F possibly damaging Het
Trat1 T C 16: 48,560,572 (GRCm39) S102G possibly damaging Het
Trub1 G A 19: 57,461,191 (GRCm39) V156I probably benign Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Unc13a T A 8: 72,100,561 (GRCm39) T1076S probably benign Het
Vangl2 A G 1: 171,832,414 (GRCm39) Y481H probably damaging Het
Vmn2r105 C T 17: 20,447,973 (GRCm39) E284K probably benign Het
Vmn2r60 A T 7: 41,845,195 (GRCm39) I853F probably benign Het
Yrdc T C 4: 124,748,254 (GRCm39) probably benign Het
Zfp595 A T 13: 67,465,259 (GRCm39) C335S probably damaging Het
Zfp872 A G 9: 22,110,910 (GRCm39) S149G possibly damaging Het
Other mutations in Sirt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Sirt2 APN 7 28,478,371 (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
R8184:Sirt2 UTSW 7 28,487,191 (GRCm39) missense probably damaging 1.00
R8679:Sirt2 UTSW 7 28,471,261 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15