Incidental Mutation 'IGL02230:Sirt2'
ID285643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirt2
Ensembl Gene ENSMUSG00000015149
Gene Namesirtuin 2
SynonymsSir2l, SIR2L2, 5730427M03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02230
Quality Score
Status
Chromosome7
Chromosomal Location28766735-28788661 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 28778946 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 83 (R83C)
Ref Sequence ENSEMBL: ENSMUSP00000132783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072965] [ENSMUST00000122915] [ENSMUST00000155327] [ENSMUST00000170068]
Predicted Effect probably damaging
Transcript: ENSMUST00000072965
AA Change: R153C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149
AA Change: R153C

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: R116C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153956
Predicted Effect probably damaging
Transcript: ENSMUST00000155327
AA Change: R116C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000170068
AA Change: R83C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132783
Gene: ENSMUSG00000015149
AA Change: R83C

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 noncoding transcript
Transcript: ENSMUST00000207322
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,171,830 T727S probably benign Het
Cyp4a12b A T 4: 115,433,996 I374F probably damaging Het
Ecel1 T C 1: 87,152,194 N399S probably damaging Het
Fpr-rs3 T C 17: 20,623,928 E317G probably damaging Het
Gm10030 T A 9: 111,006,390 noncoding transcript Het
Gm4884 A T 7: 41,043,405 Q266L probably damaging Het
Gpr45 C A 1: 43,032,656 A153E probably damaging Het
Hc A G 2: 35,013,670 F991L probably benign Het
Hif1a T G 12: 73,932,450 D249E probably damaging Het
Hsd17b12 A G 2: 94,045,398 L194P possibly damaging Het
Hspg2 T C 4: 137,518,645 S947P probably damaging Het
Kng1 G T 16: 23,060,494 probably null Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc4 T A 6: 28,830,880 K245N probably damaging Het
Mdga2 G A 12: 66,655,423 R335* probably null Het
Naa16 A T 14: 79,377,361 probably benign Het
Ncbp1 C A 4: 46,165,272 N528K probably benign Het
Olfr57 T A 10: 79,035,042 M82K probably damaging Het
Olfr714 A G 7: 107,074,493 I222V probably damaging Het
Pipox A G 11: 77,881,206 L364P probably damaging Het
R3hdm4 C A 10: 79,912,091 A206S probably damaging Het
Rasgrf2 A G 13: 91,988,026 I589T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 E24G probably damaging Het
Sec24a T C 11: 51,709,034 I815V possibly damaging Het
Serpina16 A G 12: 103,675,302 Y55H probably damaging Het
Sntg1 A T 1: 8,681,971 probably null Het
Stmn1 A G 4: 134,472,913 E99G probably damaging Het
Tas2r103 T C 6: 133,037,056 I16V possibly damaging Het
Vit A G 17: 78,619,627 K334E probably damaging Het
Washc4 T C 10: 83,581,369 I876T probably benign Het
Wrn A T 8: 33,317,563 V289D probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Sirt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6285:Sirt2 UTSW 7 28788046 missense probably benign 0.10
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
R8679:Sirt2 UTSW 7 28771836 missense probably damaging 1.00
Posted On2015-04-16