Incidental Mutation 'R6285:Sirt2'
Institutional Source Beutler Lab
Gene Symbol Sirt2
Ensembl Gene ENSMUSG00000015149
Gene Namesirtuin 2
SynonymsSir2l, SIR2L2, 5730427M03Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6285 (G1)
Quality Score225.009
Status Validated
Chromosomal Location28766735-28788661 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 28788046 bp
Amino Acid Change Threonine to Proline at position 345 (T345P)
Ref Sequence ENSEMBL: ENSMUSP00000147217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059857] [ENSMUST00000072965] [ENSMUST00000122915] [ENSMUST00000155327] [ENSMUST00000170068] [ENSMUST00000209035]
Predicted Effect probably benign
Transcript: ENSMUST00000059857
SMART Domains Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735

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 benign
Transcript: ENSMUST00000072965
AA Change: T382P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149
AA Change: T382P

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 benign
Transcript: ENSMUST00000122915
AA Change: T345P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153956
Predicted Effect unknown
Transcript: ENSMUST00000155327
AA Change: T344P
Predicted Effect unknown
Transcript: ENSMUST00000170068
AA Change: T312P
SMART Domains Protein: ENSMUSP00000132783
Gene: ENSMUSG00000015149
AA Change: T312P

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 noncoding transcript
Transcript: ENSMUST00000207201
Predicted Effect probably benign
Transcript: ENSMUST00000209035
Meta Mutation Damage Score 0.0660 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (68/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730017C20Rik A G 18: 59,072,224 K28R probably benign Het
Acad9 A T 3: 36,082,175 M370L probably benign Het
Aimp1 A G 3: 132,667,504 M225T possibly damaging Het
Atp8a1 T C 5: 67,667,607 I809V possibly damaging Het
Bbs10 A G 10: 111,299,761 Y245C probably damaging Het
Cabin1 A T 10: 75,684,323 F1572Y probably damaging Het
Cd79a A G 7: 24,899,347 N107S possibly damaging Het
Cdc7 G A 5: 106,983,059 A428T probably benign Het
Cep290 A G 10: 100,523,329 T974A probably benign Het
Cep350 A T 1: 155,953,374 N261K possibly damaging Het
Cfap46 T A 7: 139,661,085 D8V probably damaging Het
Col6a4 T C 9: 106,074,986 D571G probably damaging Het
Cpe A C 8: 64,617,611 V200G probably benign Het
Ctnnd1 C T 2: 84,613,887 probably null Het
D5Ertd579e A C 5: 36,615,577 C491W probably damaging Het
Dek A G 13: 47,099,380 I183T probably damaging Het
Dennd1a A T 2: 37,852,441 H437Q possibly damaging Het
Dido1 C T 2: 180,661,147 A1655T probably benign Het
Eva1b A G 4: 126,149,485 D106G probably damaging Het
Evc2 G T 5: 37,424,579 S1189I possibly damaging Het
Faap100 A T 11: 120,376,732 L405Q probably damaging Het
Fbxw15 T A 9: 109,557,166 M249L probably benign Het
Gbp10 A T 5: 105,218,460 L526Q probably damaging Het
Gm13084 A G 4: 143,816,039 C4R probably damaging Het
Gm14025 T G 2: 129,037,799 T736P possibly damaging Het
Gm19402 A C 10: 77,690,520 probably benign Het
Gm2244 A G 14: 19,540,797 Y141H probably damaging Het
Gm4181 A T 14: 51,633,209 N98K probably damaging Het
Gm765 T C 6: 98,238,173 D163G probably damaging Het
Golga4 C T 9: 118,558,627 R616* probably null Het
Gpank1 T A 17: 35,124,290 S226T probably damaging Het
Hipk3 T C 2: 104,471,425 M141V probably damaging Het
Hoxc11 T C 15: 102,954,743 V73A probably benign Het
Igf1r T G 7: 68,004,137 I141S possibly damaging Het
Jak2 T A 19: 29,295,659 F628I probably benign Het
Kcp C A 6: 29,502,365 V227L probably benign Het
Knl1 T G 2: 119,071,941 C1374W probably damaging Het
Larp6 A T 9: 60,737,760 R394S probably benign Het
Lilra5 G A 7: 4,242,115 G253R probably damaging Het
Map3k4 A G 17: 12,264,058 S591P probably damaging Het
Mrpl16 T A 19: 11,772,968 I72K probably damaging Het
Nol11 C G 11: 107,181,034 R244S probably benign Het
Nr2f1 T C 13: 78,195,663 T161A probably benign Het
Nrd1 G T 4: 109,038,006 V476F probably damaging Het
Olfr1406 G T 1: 173,183,910 H175N probably damaging Het
Olfr419 A T 1: 174,250,829 S33T possibly damaging Het
Olfr451-ps1 A T 6: 42,800,909 H56L probably benign Het
Olfr535 T A 7: 140,492,713 L25Q possibly damaging Het
P2rx1 A G 11: 73,008,148 I62V probably benign Het
Pcdhgc5 A T 18: 37,820,621 Y316F probably benign Het
Pecam1 T C 11: 106,685,239 D490G probably benign Het
Pfkfb2 A T 1: 130,707,562 Y87* probably null Het
Poldip2 A G 11: 78,517,632 probably null Het
Ppp2r5b T A 19: 6,230,536 Q304L probably benign Het
Psg26 A G 7: 18,482,828 F29L probably benign Het
Ptk6 A T 2: 181,197,093 L289Q probably null Het
Ptprt A T 2: 161,901,497 I508N possibly damaging Het
Rasgrp4 T C 7: 29,148,383 F406S probably damaging Het
Rspo3 A G 10: 29,499,930 probably null Het
Sept8 G T 11: 53,534,767 probably null Het
Slc6a20b T C 9: 123,609,096 E205G possibly damaging Het
Sqstm1 G A 11: 50,202,591 Q327* probably null Het
Susd3 T A 13: 49,237,521 S98C probably damaging Het
Tada2b G A 5: 36,476,842 R56W probably damaging Het
Tbc1d2 A T 4: 46,615,045 V546E possibly damaging Het
Tbx6 A G 7: 126,781,568 Q21R possibly damaging Het
Usp24 T G 4: 106,374,100 probably null Het
Vmn2r103 A G 17: 19,812,144 T727A probably benign Het
Wdr48 C T 9: 119,920,610 T531M probably damaging Het
Other mutations in Sirt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Sirt2 APN 7 28778946 missense probably damaging 1.00
R1162:Sirt2 UTSW 7 28785822 missense probably damaging 1.00
R2224:Sirt2 UTSW 7 28772212 splice site probably null
R3548:Sirt2 UTSW 7 28767671 missense probably damaging 0.99
R4744:Sirt2 UTSW 7 28777013 missense probably damaging 1.00
R6219:Sirt2 UTSW 7 28767515 intron probably benign
R6244:Sirt2 UTSW 7 28787797 missense probably damaging 0.99
R7677:Sirt2 UTSW 7 28785410 missense probably damaging 1.00
R7768:Sirt2 UTSW 7 28782859 missense probably benign
R8184:Sirt2 UTSW 7 28787766 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-03-15