Incidental Mutation 'R6519:Hdac2'
ID 521014
Institutional Source Beutler Lab
Gene Symbol Hdac2
Ensembl Gene ENSMUSG00000019777
Gene Name histone deacetylase 2
Synonyms Yy1bp, D10Wsu179e
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 36974544-37001889 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36989256 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 155 (N155K)
Ref Sequence ENSEMBL: ENSMUSP00000101149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019911] [ENSMUST00000105510]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019911
AA Change: N155K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: N155K

Pfam:Hist_deacetyl 19 321 2.5e-88 PFAM
low complexity region 392 403 N/A INTRINSIC
low complexity region 418 431 N/A INTRINSIC
low complexity region 448 469 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105510
AA Change: N155K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777
AA Change: N155K

Pfam:Hist_deacetyl 19 297 8.9e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128031
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes, and are responsible for the deacetylation of lysine residues at the N-terminal regions of core histones (H2A, H2B, H3 and H4). This protein forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus, it plays an important role in transcriptional regulation, cell cycle progression and developmental events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and postnatal lethality accompanied with a transient decrease in body size and increase in heart size and cardiomyocyte proliferation that is overcome by 2 months of age in surviving mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,613,670 (GRCm38) I53T probably damaging Het
Adgrv1 C T 13: 81,567,343 (GRCm38) D909N probably benign Het
Ahdc1 T C 4: 133,064,768 (GRCm38) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm38) V49E probably damaging Het
Apol6 T A 15: 77,051,276 (GRCm38) Y248* probably null Het
Apol7b T A 15: 77,423,348 (GRCm38) T316S probably benign Het
Atp13a2 G C 4: 141,000,854 (GRCm38) R503P possibly damaging Het
BC037034 A G 5: 138,261,848 (GRCm38) S344P probably damaging Het
Brca2 A C 5: 150,540,979 (GRCm38) T1403P probably damaging Het
Casc4 T C 2: 121,906,737 (GRCm38) V141A probably benign Het
Cblc T C 7: 19,792,863 (GRCm38) Y148C probably damaging Het
Cct7 C A 6: 85,462,150 (GRCm38) Q149K probably benign Het
Cd53 T A 3: 106,762,145 (GRCm38) H179L probably benign Het
Cyp2b19 A G 7: 26,759,111 (GRCm38) T84A probably benign Het
Cyp3a41a A G 5: 145,715,498 (GRCm38) C64R probably damaging Het
Dclre1c T C 2: 3,429,329 (GRCm38) Y75H probably damaging Het
Dhx35 A T 2: 158,831,710 (GRCm38) I354F probably damaging Het
Diaph3 T C 14: 86,966,335 (GRCm38) N629S probably damaging Het
Dnase1 A T 16: 4,038,589 (GRCm38) S132C probably damaging Het
Dnttip2 T C 3: 122,275,471 (GRCm38) S112P probably benign Het
Eif4g3 C A 4: 137,994,008 (GRCm38) P48T probably benign Het
Fat4 A T 3: 39,002,871 (GRCm38) T4239S probably benign Het
Fbn2 A G 18: 58,063,575 (GRCm38) V1419A possibly damaging Het
Ghitm A C 14: 37,125,247 (GRCm38) M290R probably damaging Het
Glb1l T C 1: 75,201,056 (GRCm38) D406G probably benign Het
Glipr1l1 C A 10: 112,062,248 (GRCm38) A86D probably benign Het
Grm7 C T 6: 111,207,752 (GRCm38) A348V probably benign Het
Gtf2h3 C T 5: 124,584,297 (GRCm38) T121I probably benign Het
Hus1b A G 13: 30,946,947 (GRCm38) I243T probably benign Het
Kcnab2 T C 4: 152,411,993 (GRCm38) T65A probably damaging Het
Lasp1 T A 11: 97,815,557 (GRCm38) probably null Het
Lrch3 G A 16: 32,994,997 (GRCm38) probably benign Het
Ltb4r2 C T 14: 55,762,981 (GRCm38) T353M probably benign Het
Macf1 A G 4: 123,472,325 (GRCm38) M1316T probably benign Het
Msr1 G A 8: 39,624,221 (GRCm38) T116I probably benign Het
Nlrp5 A G 7: 23,417,918 (GRCm38) I356V probably benign Het
Npy C T 6: 49,823,689 (GRCm38) S31F possibly damaging Het
Nsd3 C T 8: 25,662,939 (GRCm38) P432S probably damaging Het
Nup160 A C 2: 90,718,217 (GRCm38) R1037S probably damaging Het
Olfr284 C T 15: 98,340,048 (GRCm38) G314R probably benign Het
Olfr32 A T 2: 90,138,812 (GRCm38) I109N possibly damaging Het
Olfr533 T A 7: 140,466,545 (GRCm38) S115T probably benign Het
Pcx A G 19: 4,602,211 (GRCm38) E108G possibly damaging Het
Pecam1 A T 11: 106,699,642 (GRCm38) M102K probably benign Het
Pgd G T 4: 149,150,886 (GRCm38) Y433* probably null Het
Pkd1l3 A G 8: 109,628,772 (GRCm38) E744G probably benign Het
Rb1 A G 14: 73,298,063 (GRCm38) I118T probably benign Het
Rdh11 T A 12: 79,182,815 (GRCm38) H228L probably damaging Het
Rnf44 C T 13: 54,681,786 (GRCm38) R340Q probably damaging Het
Rtraf A G 14: 19,819,930 (GRCm38) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm38) T185A possibly damaging Het
Thsd1 A G 8: 22,259,065 (GRCm38) R590G probably damaging Het
Trbv19 T C 6: 41,178,639 (GRCm38) probably benign Het
Txnrd3 T C 6: 89,654,423 (GRCm38) probably null Het
Wwc1 C T 11: 35,853,437 (GRCm38) E853K probably benign Het
Xpnpep1 T C 19: 53,011,844 (GRCm38) N192D possibly damaging Het
Zfp955b T A 17: 33,302,077 (GRCm38) S173R possibly damaging Het
Zranb1 T A 7: 132,950,128 (GRCm38) C195* probably null Het
Other mutations in Hdac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Hdac2 APN 10 36,997,071 (GRCm38) missense probably damaging 1.00
IGL00827:Hdac2 APN 10 36,997,114 (GRCm38) missense probably benign
IGL02971:Hdac2 APN 10 37,000,374 (GRCm38) nonsense probably null
checkmate UTSW 10 36,993,899 (GRCm38) missense probably benign
failure UTSW 10 36,989,184 (GRCm38) missense probably benign 0.16
misstep UTSW 10 36,986,374 (GRCm38) missense possibly damaging 0.59
R0123:Hdac2 UTSW 10 36,989,184 (GRCm38) missense probably benign 0.16
R0134:Hdac2 UTSW 10 36,989,184 (GRCm38) missense probably benign 0.16
R0167:Hdac2 UTSW 10 37,000,372 (GRCm38) missense probably benign 0.04
R0225:Hdac2 UTSW 10 36,989,184 (GRCm38) missense probably benign 0.16
R0455:Hdac2 UTSW 10 36,991,836 (GRCm38) missense probably damaging 1.00
R0480:Hdac2 UTSW 10 36,974,792 (GRCm38) missense probably damaging 1.00
R0482:Hdac2 UTSW 10 36,989,134 (GRCm38) intron probably benign
R0535:Hdac2 UTSW 10 36,993,899 (GRCm38) missense probably benign
R1101:Hdac2 UTSW 10 36,991,809 (GRCm38) missense probably damaging 1.00
R1297:Hdac2 UTSW 10 36,986,374 (GRCm38) missense possibly damaging 0.59
R4839:Hdac2 UTSW 10 36,997,466 (GRCm38) missense probably benign 0.04
R6109:Hdac2 UTSW 10 36,986,389 (GRCm38) missense probably null 0.83
R6447:Hdac2 UTSW 10 36,993,816 (GRCm38) missense possibly damaging 0.95
R6893:Hdac2 UTSW 10 36,997,007 (GRCm38) missense probably damaging 1.00
R7461:Hdac2 UTSW 10 36,989,236 (GRCm38) missense probably damaging 1.00
R7613:Hdac2 UTSW 10 36,989,236 (GRCm38) missense probably damaging 1.00
R8117:Hdac2 UTSW 10 36,997,970 (GRCm38) missense probably damaging 1.00
R8187:Hdac2 UTSW 10 36,988,136 (GRCm38) missense probably damaging 1.00
R8360:Hdac2 UTSW 10 36,998,063 (GRCm38) missense probably benign 0.00
R8974:Hdac2 UTSW 10 36,986,344 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-06-06