Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:Sirt2'

508174

Institutional Source

Beutler Lab

Gene Symbol

Sirt2

Ensembl Gene

ENSMUSG00000015149

Gene Name

sirtuin 2

Synonyms

Sir2l, SIR2L2, 5730427M03Rik

MMRRC Submission

044455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28466192-28488086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28487471 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q8VDQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000059857

SMART Domains

Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Aimp1	A	G	3: 132,373,265 (GRCm39)	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cdc7	G	A	5: 107,130,925 (GRCm39)	A428T	probably benign	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,742,453 (GRCm39)	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,267,558 (GRCm39)	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nr2f1	T	C	13: 78,343,782 (GRCm39)	T161A	probably benign	Het
Nrdc	G	T	4: 108,895,203 (GRCm39)	V476F	probably damaging	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
P2rx1	A	G	11: 72,898,974 (GRCm39)	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Septin8	G	T	11: 53,425,594 (GRCm39)		probably null	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	probably damaging	Het

Other mutations in Sirt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

PCR Primer
(F):5'- TTACGGTAACCTGACTTGCG -3'
(R):5'- TAGGGAAGGCTGCTTCTTGC -3'

Sequencing Primer
(F):5'- GTCAACTTTGCCCCCTACAGAAG -3'
(R):5'- GCCTCAGCCCCTAGGTATATTAGG -3'

Posted On

2018-03-15