Incidental Mutation 'R7461:Hdac2'
ID 578453
Institutional Source Beutler Lab
Gene Symbol Hdac2
Ensembl Gene ENSMUSG00000019777
Gene Name histone deacetylase 2
Synonyms Yy1bp, D10Wsu179e
MMRRC Submission 045535-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7461 (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 C at 36989236 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 149 (S149P)
Ref Sequence ENSEMBL: ENSMUSP00000019911 (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: S149P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: S149P

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: S149P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777
AA Change: S149P

Pfam:Hist_deacetyl 19 297 8.9e-75 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,252,531 (GRCm38) T8I probably benign Het
Adgrb2 CTATA CTATATA 4: 130,021,213 (GRCm38) probably benign Het
Akt2 A G 7: 27,637,170 (GRCm38) I448V probably benign Het
Anapc5 G A 5: 122,818,865 (GRCm38) T117M probably damaging Het
Arhgap10 T C 8: 77,388,697 (GRCm38) E358G probably damaging Het
C1qtnf6 T A 15: 78,527,349 (GRCm38) K42N probably benign Het
Cacna1d A T 14: 30,066,163 (GRCm38) D1605E probably benign Het
Cdkl1 T A 12: 69,756,461 (GRCm38) I214L probably benign Het
Celsr2 C T 3: 108,395,640 (GRCm38) G2506R probably damaging Het
Cenpj G A 14: 56,527,044 (GRCm38) R1304* probably null Het
Cfap58 A G 19: 47,982,122 (GRCm38) D593G possibly damaging Het
Crip2 T C 12: 113,144,157 (GRCm38) probably null Het
Crocc2 G T 1: 93,194,589 (GRCm38) A735S possibly damaging Het
Dcc A T 18: 71,306,034 (GRCm38) L1279H probably damaging Het
Dnah2 A G 11: 69,548,990 (GRCm38) probably null Het
Dpp8 C T 9: 65,053,120 (GRCm38) T311M possibly damaging Het
Eps15 T C 4: 109,329,725 (GRCm38) S330P probably damaging Het
Exoc2 C T 13: 30,882,272 (GRCm38) V474I probably benign Het
Fmn1 A G 2: 113,364,071 (GRCm38) T39A unknown Het
Foxn2 T C 17: 88,486,883 (GRCm38) I416T possibly damaging Het
Gbp8 T C 5: 105,031,014 (GRCm38) E145G probably damaging Het
Gjd2 A C 2: 114,011,118 (GRCm38) S293A possibly damaging Het
Gm3676 T A 14: 41,643,276 (GRCm38) I141L probably benign Het
Gm4131 A G 14: 62,481,089 (GRCm38) Y23H possibly damaging Het
Gucy1b1 T A 3: 82,039,747 (GRCm38) D385V possibly damaging Het
Igsf9b A T 9: 27,334,122 (GRCm38) R1128S probably benign Het
Invs A G 4: 48,392,668 (GRCm38) H294R probably damaging Het
Itgbl1 T A 14: 123,827,799 (GRCm38) S122T possibly damaging Het
Kansl3 G A 1: 36,343,795 (GRCm38) S812F probably damaging Het
Kcnt1 A T 2: 25,901,346 (GRCm38) H567L probably benign Het
Klhl30 G T 1: 91,357,408 (GRCm38) V329F possibly damaging Het
Krt33a A G 11: 100,011,939 (GRCm38) I353T probably damaging Het
Lrrc37 G T 11: 103,616,290 (GRCm38) H1617Q unknown Het
Lrrc7 T C 3: 158,187,020 (GRCm38) T331A probably benign Het
Megf10 G T 18: 57,252,853 (GRCm38) V313F probably damaging Het
Myo15a A G 11: 60,505,152 (GRCm38) T1438A Het
Myocd A G 11: 65,218,603 (GRCm38) L114P probably damaging Het
Or5b21 A T 19: 12,861,777 (GRCm38) M1L probably benign Het
Pde4b A G 4: 102,255,306 (GRCm38) E29G probably damaging Het
Por G T 5: 135,729,504 (GRCm38) A112S probably damaging Het
Prkcq T C 2: 11,299,410 (GRCm38) F651S probably damaging Het
Selenoi A G 5: 30,266,928 (GRCm38) I376V possibly damaging Het
Setbp1 A C 18: 78,856,492 (GRCm38) M1320R probably benign Het
Skint6 A T 4: 113,177,046 (GRCm38) probably null Het
Tdrd6 T C 17: 43,627,926 (GRCm38) T744A probably benign Het
Tmem209 C T 6: 30,508,470 (GRCm38) W61* probably null Het
Tmem94 G T 11: 115,786,256 (GRCm38) R118L possibly damaging Het
Top1 A T 2: 160,712,842 (GRCm38) probably null Het
Tradd T C 8: 105,260,564 (GRCm38) K37E possibly damaging Het
Ttc28 C A 5: 111,224,129 (GRCm38) L846M probably damaging Het
Umodl1 T A 17: 30,988,057 (GRCm38) C807* probably null Het
Upf2 T A 2: 5,973,536 (GRCm38) S404T unknown Het
Wscd1 T C 11: 71,759,973 (GRCm38) L42P possibly damaging 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
R6519:Hdac2 UTSW 10 36,989,256 (GRCm38) missense probably damaging 1.00
R6893:Hdac2 UTSW 10 36,997,007 (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 2019-10-07