Mutagenetix > Incidental Mutation

Incidental Mutation 'R6519:Hdac2'

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

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- TGGCATATTTAATAGGGCTTCGC -3'
(R):5'- CACTGTAGTGGTCTATTTCTCACAC -3'

Sequencing Primer
(F):5'- ATAGGGCTTCGCTTATATGTATTTTG -3'
(R):5'- ACTTCTGCAGGGGCTCACAAC -3'

Posted On

2018-06-06