Incidental Mutation 'R0225:Hdac2'
ID 33863
Institutional Source Beutler Lab
Gene Symbol Hdac2
Ensembl Gene ENSMUSG00000019777
Gene Name histone deacetylase 2
Synonyms Yy1bp, D10Wsu179e
MMRRC Submission 038470-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0225 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 36974544-37001889 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36989184 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 131 (D131E)
Ref Sequence ENSEMBL: ENSMUSP00000019911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019911] [ENSMUST00000105510]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019911
AA Change: D131E

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: D131E

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 benign
Transcript: ENSMUST00000105510
AA Change: D131E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777
AA Change: D131E

Pfam:Hist_deacetyl 19 297 8.9e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128031
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik G A 18: 38,261,264 (GRCm38) V505I probably benign Het
4931417E11Rik A G 6: 73,469,419 (GRCm38) L49P possibly damaging Het
Abca16 T A 7: 120,540,155 (GRCm38) L1470Q probably damaging Het
Abraxas2 G A 7: 132,874,855 (GRCm38) R105Q probably damaging Het
Arhgap23 G T 11: 97,444,328 (GRCm38) V70L probably benign Het
AW549877 T C 15: 3,986,294 (GRCm38) K263E probably damaging Het
Bicd1 T C 6: 149,512,950 (GRCm38) I387T probably benign Het
Cd59b G A 2: 104,078,941 (GRCm38) probably null Het
Chn2 T C 6: 54,290,451 (GRCm38) probably benign Het
Col18a1 T C 10: 77,088,914 (GRCm38) S14G possibly damaging Het
Col5a2 A G 1: 45,407,035 (GRCm38) I461T probably benign Het
Dnlz T C 2: 26,351,368 (GRCm38) N116S probably damaging Het
Esyt2 A G 12: 116,367,710 (GRCm38) N736S probably damaging Het
F11 T C 8: 45,249,077 (GRCm38) T267A probably benign Het
Fam234b T G 6: 135,217,074 (GRCm38) S242A possibly damaging Het
Gadd45b A G 10: 80,930,347 (GRCm38) N11S probably benign Het
Garnl3 T C 2: 33,006,804 (GRCm38) T608A possibly damaging Het
Gata3 T C 2: 9,874,809 (GRCm38) T119A probably benign Het
Gm10647 A G 9: 66,798,495 (GRCm38) probably benign Het
Gm10936 G A 10: 117,248,130 (GRCm38) noncoding transcript Het
Gzmd A G 14: 56,129,704 (GRCm38) W244R probably damaging Het
Hira T A 16: 18,956,171 (GRCm38) F949I probably benign Het
Ighv15-2 T G 12: 114,565,037 (GRCm38) probably benign Het
Il3 A G 11: 54,265,680 (GRCm38) probably null Het
Itgae A C 11: 73,111,342 (GRCm38) M91L probably benign Het
Kat2b A G 17: 53,641,210 (GRCm38) E336G probably damaging Het
Kctd21 T A 7: 97,348,091 (GRCm38) I257N probably benign Het
Kif23 C G 9: 61,925,694 (GRCm38) probably benign Het
Lgi3 A T 14: 70,532,821 (GRCm38) I109L probably benign Het
Lhx9 A T 1: 138,838,679 (GRCm38) C124S probably damaging Het
Lipo4 A G 19: 33,501,606 (GRCm38) V278A probably benign Het
Lrch3 T A 16: 32,961,754 (GRCm38) probably benign Het
Lrp1b T C 2: 40,596,983 (GRCm38) E142G probably damaging Het
Map9 G A 3: 82,359,983 (GRCm38) probably benign Het
Miox C T 15: 89,334,454 (GRCm38) probably benign Het
Mndal A T 1: 173,857,513 (GRCm38) probably benign Het
Mug2 G T 6: 122,074,714 (GRCm38) V952L possibly damaging Het
Nepn A T 10: 52,400,437 (GRCm38) T29S probably damaging Het
Olfr1055 T C 2: 86,347,728 (GRCm38) I13V possibly damaging Het
Olfr307 A G 7: 86,335,595 (GRCm38) I267T probably benign Het
Olfr729 T G 14: 50,148,635 (GRCm38) K80Q probably damaging Het
Olfr933 A G 9: 38,976,278 (GRCm38) I201V probably benign Het
Phf3 A T 1: 30,805,065 (GRCm38) D1604E probably benign Het
Plekhn1 T C 4: 156,228,243 (GRCm38) R53G probably benign Het
Prickle1 A G 15: 93,510,777 (GRCm38) L47P possibly damaging Het
Ptar1 T A 19: 23,718,095 (GRCm38) C309S probably benign Het
Rapgef2 A T 3: 79,104,105 (GRCm38) S224R probably damaging Het
Siglecg G A 7: 43,411,171 (GRCm38) G325D probably damaging Het
Skor2 A T 18: 76,859,098 (GRCm38) I172F unknown Het
Slc9a1 A G 4: 133,420,605 (GRCm38) K645E probably benign Het
St14 T A 9: 31,108,284 (GRCm38) probably null Het
Tas2r120 T A 6: 132,657,589 (GRCm38) Y211* probably null Het
Tbxa2r C A 10: 81,332,900 (GRCm38) T141K possibly damaging Het
Tpd52l1 A G 10: 31,379,256 (GRCm38) S32P probably damaging Het
Ttn C A 2: 76,793,130 (GRCm38) V15368L possibly damaging Het
Ttn T A 2: 76,710,124 (GRCm38) R34173W probably damaging Het
Tyms A G 5: 30,063,258 (GRCm38) I148T probably damaging Het
Vmn1r45 A T 6: 89,933,510 (GRCm38) Y159* probably null Het
Vmn1r58 A C 7: 5,410,866 (GRCm38) S122A probably benign Het
Vmn2r13 C A 5: 109,175,049 (GRCm38) V125L probably benign Het
Vmn2r92 C T 17: 18,167,957 (GRCm38) A408V probably damaging Het
Vps13b T C 15: 35,887,261 (GRCm38) I3272T probably benign Het
Wfdc8 A G 2: 164,597,185 (GRCm38) Y426H probably benign Het
Zfp948 A T 17: 21,587,294 (GRCm38) K249N probably damaging Het
Zfyve1 A G 12: 83,555,073 (GRCm38) probably benign Het
Zyg11a G A 4: 108,204,641 (GRCm38) T321I probably 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
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
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 2013-05-09