Incidental Mutation 'R6219:Sirt2'
ID 503901
Institutional Source Beutler Lab
Gene Symbol Sirt2
Ensembl Gene ENSMUSG00000015149
Gene Name sirtuin 2
Synonyms Sir2l, SIR2L2, 5730427M03Rik
MMRRC Submission 044351-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6219 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 28466192-28488086 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 28466940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000072965] [ENSMUST00000085851] [ENSMUST00000122915] [ENSMUST00000137121] [ENSMUST00000155327] [ENSMUST00000170068]
AlphaFold Q8VDQ8
Predicted Effect probably benign
Transcript: ENSMUST00000032815
SMART Domains Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 155 5.98e1 SMART
low complexity region 183 191 N/A INTRINSIC
ANK 206 235 5.12e-7 SMART
ANK 240 269 1.76e-5 SMART
ANK 273 303 1.37e2 SMART
low complexity region 305 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072965
SMART Domains Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149

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 benign
Transcript: ENSMUST00000085851
SMART Domains Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 155 5.98e1 SMART
low complexity region 183 191 N/A INTRINSIC
ANK 206 235 5.12e-7 SMART
ANK 240 269 1.76e-5 SMART
ANK 273 303 1.37e2 SMART
low complexity region 305 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122915
Predicted Effect probably benign
Transcript: ENSMUST00000137121
SMART Domains Protein: ENSMUSP00000117769
Gene: ENSMUSG00000030595

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 151 2.15e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155327
Predicted Effect probably benign
Transcript: ENSMUST00000170068
SMART Domains Protein: ENSMUSP00000132783
Gene: ENSMUSG00000015149

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030445D17Rik T C 4: 136,190,059 (GRCm39) S147P unknown Het
Acat2 T C 17: 13,179,604 (GRCm39) probably benign Het
Ano2 A G 6: 125,792,553 (GRCm39) D349G probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ccnf C A 17: 24,445,678 (GRCm39) E523* probably null Het
Ccr10 C T 11: 101,065,375 (GRCm39) A52T possibly damaging Het
Cdc14b C T 13: 64,353,338 (GRCm39) probably benign Het
Cirop G T 14: 54,933,116 (GRCm39) Q356K noncoding transcript Het
Cmya5 T C 13: 93,230,951 (GRCm39) E1379G probably damaging Het
Cyfip1 A G 7: 55,558,189 (GRCm39) D822G possibly damaging Het
Cyp4a29 A C 4: 115,106,927 (GRCm39) T195P probably damaging Het
Dmxl1 A T 18: 50,035,434 (GRCm39) T2283S probably damaging Het
Dnah7b A G 1: 46,272,745 (GRCm39) D2291G probably benign Het
Dock3 T A 9: 106,872,080 (GRCm39) L493F probably damaging Het
Fbxw7 G A 3: 84,876,520 (GRCm39) G227D probably damaging Het
Fmo2 A T 1: 162,708,085 (GRCm39) V350D probably damaging Het
Glis1 C T 4: 107,489,102 (GRCm39) P487S probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm35315 G T 5: 110,226,410 (GRCm39) T343K probably benign Het
Gpr141 A G 13: 19,936,697 (GRCm39) I26T probably benign Het
Hectd4 T G 5: 121,446,941 (GRCm39) V311G possibly damaging Het
Ino80d C T 1: 63,118,206 (GRCm39) E322K possibly damaging Het
Irs2 A G 8: 11,055,121 (GRCm39) S1104P probably damaging Het
Lama1 T C 17: 68,097,851 (GRCm39) F1744L probably benign Het
Lcn10 A T 2: 25,573,587 (GRCm39) R55* probably null Het
Lrp2 A T 2: 69,299,822 (GRCm39) C3077S probably damaging Het
Mdc1 T A 17: 36,161,566 (GRCm39) S826R probably benign Het
Nr2c1 G T 10: 93,999,648 (GRCm39) V103L probably benign Het
Nup133 A T 8: 124,663,612 (GRCm39) D310E possibly damaging Het
Or7c70 A G 10: 78,683,093 (GRCm39) S219P possibly damaging Het
Pip5k1b T A 19: 24,359,187 (GRCm39) E112D probably damaging Het
Pira12 A T 7: 3,897,640 (GRCm39) V485E probably damaging Het
Reln T C 5: 22,153,594 (GRCm39) K2237E probably damaging Het
Slit2 A T 5: 48,459,770 (GRCm39) H1350L possibly damaging Het
Snx15 A G 19: 6,171,538 (GRCm39) S179P probably damaging Het
Sp8 T G 12: 118,812,402 (GRCm39) S86A probably benign Het
Sptbn5 T C 2: 119,907,803 (GRCm39) probably benign Het
Tfap4 A G 16: 4,365,175 (GRCm39) S196P probably damaging Het
Tgm3 T C 2: 129,880,530 (GRCm39) probably null Het
Tnks2 T C 19: 36,843,604 (GRCm39) probably benign Het
Ttll11 A T 2: 35,642,511 (GRCm39) probably null Het
Vwa3b C A 1: 37,139,779 (GRCm39) Q367K possibly damaging Het
Zdhhc20 A T 14: 58,078,340 (GRCm39) V312E probably damaging 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
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 2018-02-27