Mutagenetix > Incidental Mutation

Incidental Mutation 'R6109:Hdac2'

484727

Institutional Source

Beutler Lab

Gene Symbol

Hdac2

Ensembl Gene

ENSMUSG00000019777

Gene Name

histone deacetylase 2

Synonyms

D10Wsu179e, Yy1bp

MMRRC Submission

044259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6109 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36850540-36877885 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36862385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 83 (D83G)

Ref Sequence

ENSEMBL: ENSMUSP00000019911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019911] [ENSMUST00000105510]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000019911
AA Change: D83G

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: D83G

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 null
Transcript: ENSMUST00000105510
AA Change: D83G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777
AA Change: D83G

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	19	297	8.9e-75	PFAM

Meta Mutation Damage Score

0.4229

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,303 (GRCm39)	Y950C	probably benign	Het
Acadm	A	G	3: 153,647,580 (GRCm39)	C20R	probably damaging	Het
Agtpbp1	G	T	13: 59,621,560 (GRCm39)	T984K	probably damaging	Het
Agxt2	C	T	15: 10,377,508 (GRCm39)	T136I	probably damaging	Het
Ankrd36	C	A	11: 5,578,941 (GRCm39)	N68K	probably damaging	Het
Ap3b2	T	A	7: 81,143,340 (GRCm39)	D10V	possibly damaging	Het
Apcdd1	A	T	18: 63,070,437 (GRCm39)	I235F	probably damaging	Het
Arhgap32	T	A	9: 32,171,407 (GRCm39)	W1396R	probably damaging	Het
Ascc3	A	G	10: 50,525,343 (GRCm39)	T513A	probably benign	Het
Aym1	C	T	5: 113,505,407 (GRCm39)	L9F	unknown	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Camk2a	A	T	18: 61,076,306 (GRCm39)	K95*	probably null	Het
Ccdc40	T	C	11: 119,122,804 (GRCm39)	V202A	probably benign	Het
Cd200r3	T	A	16: 44,774,045 (GRCm39)	D152E	probably benign	Het
Cd2bp2	C	T	7: 126,793,987 (GRCm39)	D101N	probably damaging	Het
Cdh20	G	A	1: 104,921,739 (GRCm39)	D679N	probably damaging	Het
Clpx	C	T	9: 65,207,234 (GRCm39)	T44I	probably benign	Het
Cnnm4	T	G	1: 36,537,560 (GRCm39)	V541G	probably damaging	Het
Csmd1	T	C	8: 16,249,874 (GRCm39)	I1035V	possibly damaging	Het
Ctsw	T	C	19: 5,517,147 (GRCm39)	S62G	probably benign	Het
Dlk2	T	A	17: 46,612,623 (GRCm39)	Y109N	probably damaging	Het
Ebf3	C	T	7: 136,807,955 (GRCm39)	V363M	probably damaging	Het
Farsb	A	G	1: 78,439,907 (GRCm39)		probably null	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxl3	C	A	5: 138,805,850 (GRCm39)	Q6K	probably damaging	Het
Gk5	C	A	9: 96,022,663 (GRCm39)	F166L	probably benign	Het
Gm11271	G	T	13: 21,565,309 (GRCm39)		noncoding transcript	Het
Gnat2	T	A	3: 108,007,451 (GRCm39)	Y290N	probably damaging	Het
H2-D1	A	T	17: 35,482,913 (GRCm39)	I148F	probably damaging	Het
Kdm5d	T	C	Y: 921,501 (GRCm39)	W500R	probably damaging	Het
Kel	A	T	6: 41,665,796 (GRCm39)	F489I	probably benign	Het
Kmo	C	A	1: 175,465,474 (GRCm39)	A76E	possibly damaging	Het
Krt32	T	C	11: 99,978,791 (GRCm39)	T88A	probably benign	Het
Lce3b	A	G	3: 92,840,994 (GRCm39)	T30A	unknown	Het
Lcn11	A	G	2: 25,669,308 (GRCm39)	H155R	possibly damaging	Het
Lmln	T	A	16: 32,889,481 (GRCm39)	I129N	possibly damaging	Het
Meiob	A	G	17: 25,031,993 (GRCm39)	K3E	probably benign	Het
Mitf	C	T	6: 97,973,429 (GRCm39)	T229M	probably damaging	Het
Ms4a20	T	C	19: 11,079,276 (GRCm39)	M131V	possibly damaging	Het
Muc16	T	C	9: 18,566,655 (GRCm39)	I1955V	unknown	Het
Naip1	A	G	13: 100,563,690 (GRCm39)	C492R	probably damaging	Het
Ncor2	C	T	5: 125,132,910 (GRCm39)	A26T	probably damaging	Het
Ngfr	T	G	11: 95,468,883 (GRCm39)	D165A	probably damaging	Het
Nobox	A	T	6: 43,282,103 (GRCm39)	S323R	probably damaging	Het
Or51ac3	T	C	7: 103,214,346 (GRCm39)	I47V	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or8g23	A	G	9: 38,971,492 (GRCm39)	S157P	probably benign	Het
Pcdhb1	G	T	18: 37,398,306 (GRCm39)	V86F	possibly damaging	Het
Pdk1	A	G	2: 71,713,850 (GRCm39)	E165G	probably benign	Het
Peak1	C	T	9: 56,166,567 (GRCm39)	V454I	probably benign	Het
Rad9b	C	T	5: 122,482,360 (GRCm39)	G125D	probably damaging	Het
S100a16	T	C	3: 90,449,381 (GRCm39)	F19L	probably damaging	Het
Serpine2	T	C	1: 79,788,388 (GRCm39)	K190E	probably damaging	Het
Slf1	A	T	13: 77,274,799 (GRCm39)	M12K	probably damaging	Het
Tex101	T	C	7: 24,367,738 (GRCm39)	T205A	possibly damaging	Het
Tssk5	T	C	15: 76,257,916 (GRCm39)	E147G	probably damaging	Het
Ubr4	A	G	4: 139,144,675 (GRCm39)	T1495A	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Wdr70	A	T	15: 8,108,638 (GRCm39)		probably null	Het
Zfp811	T	A	17: 33,016,348 (GRCm39)		probably null	Het
Zscan10	T	A	17: 23,826,103 (GRCm39)	F88L	probably damaging	Het

Other mutations in Hdac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Hdac2	APN	10	36,873,067 (GRCm39)	missense	probably damaging	1.00
IGL00827:Hdac2	APN	10	36,873,110 (GRCm39)	missense	probably benign
IGL02971:Hdac2	APN	10	36,876,370 (GRCm39)	nonsense	probably null
checkmate	UTSW	10	36,869,895 (GRCm39)	missense	probably benign
failure	UTSW	10	36,865,180 (GRCm39)	missense	probably benign	0.16
misstep	UTSW	10	36,862,370 (GRCm39)	missense	possibly damaging	0.59
R0123:Hdac2	UTSW	10	36,865,180 (GRCm39)	missense	probably benign	0.16
R0134:Hdac2	UTSW	10	36,865,180 (GRCm39)	missense	probably benign	0.16
R0167:Hdac2	UTSW	10	36,876,368 (GRCm39)	missense	probably benign	0.04
R0225:Hdac2	UTSW	10	36,865,180 (GRCm39)	missense	probably benign	0.16
R0455:Hdac2	UTSW	10	36,867,832 (GRCm39)	missense	probably damaging	1.00
R0480:Hdac2	UTSW	10	36,850,788 (GRCm39)	missense	probably damaging	1.00
R0482:Hdac2	UTSW	10	36,865,130 (GRCm39)	intron	probably benign
R0535:Hdac2	UTSW	10	36,869,895 (GRCm39)	missense	probably benign
R1101:Hdac2	UTSW	10	36,867,805 (GRCm39)	missense	probably damaging	1.00
R1297:Hdac2	UTSW	10	36,862,370 (GRCm39)	missense	possibly damaging	0.59
R4839:Hdac2	UTSW	10	36,873,462 (GRCm39)	missense	probably benign	0.04
R6447:Hdac2	UTSW	10	36,869,812 (GRCm39)	missense	possibly damaging	0.95
R6519:Hdac2	UTSW	10	36,865,252 (GRCm39)	missense	probably damaging	1.00
R6893:Hdac2	UTSW	10	36,873,003 (GRCm39)	missense	probably damaging	1.00
R7461:Hdac2	UTSW	10	36,865,232 (GRCm39)	missense	probably damaging	1.00
R7613:Hdac2	UTSW	10	36,865,232 (GRCm39)	missense	probably damaging	1.00
R8117:Hdac2	UTSW	10	36,873,966 (GRCm39)	missense	probably damaging	1.00
R8187:Hdac2	UTSW	10	36,864,132 (GRCm39)	missense	probably damaging	1.00
R8360:Hdac2	UTSW	10	36,874,059 (GRCm39)	missense	probably benign	0.00
R8974:Hdac2	UTSW	10	36,862,340 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTGATCGTGGAAACTTACAC -3'
(R):5'- AATCCCAAACTTTTCATGGGTGC -3'

Sequencing Primer
(F):5'- CTGATCGTGGAAACTTACACATATC -3'
(R):5'- ACTTTTCATGGGTGCAAAATAAAAAG -3'

Posted On

2017-08-16