Mutagenetix > Incidental Mutation

Incidental Mutation 'R8117:Hdac2'

631283

Institutional Source

Beutler Lab

Gene Symbol

Hdac2

Ensembl Gene

ENSMUSG00000019777

Gene Name

histone deacetylase 2

Synonyms

D10Wsu179e, Yy1bp

MMRRC Submission

067546-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36850540-36877885 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36873966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 365 (Q365H)

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: Q365H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: Q365H

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 benign
Transcript: ENSMUST00000105510

SMART Domains

Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,058,078 (GRCm39)	T14A		Het
2610008E11Rik	T	C	10: 78,930,289 (GRCm39)	N42D	probably benign	Het
Ajm1	A	G	2: 25,469,246 (GRCm39)	F222L	probably benign	Het
Ankrd54	T	A	15: 78,939,641 (GRCm39)	M183L		Het
Apob	G	A	12: 8,056,435 (GRCm39)	G1639D	probably damaging	Het
B3gat2	A	G	1: 23,884,061 (GRCm39)	T283A	probably benign	Het
Bmpr2	T	G	1: 59,886,252 (GRCm39)	S296R	probably damaging	Het
Cand1	G	A	10: 119,042,721 (GRCm39)	T1123I	probably damaging	Het
Cc2d2a	T	C	5: 43,869,781 (GRCm39)	F943S	probably damaging	Het
Ccdc40	T	C	11: 119,144,211 (GRCm39)	I912T	probably benign	Het
Cdkn2d	G	A	9: 21,200,447 (GRCm39)	S108L	probably benign	Het
Cep295	G	A	9: 15,245,660 (GRCm39)	T932I	probably damaging	Het
Cntn5	A	G	9: 9,673,955 (GRCm39)	S716P	probably benign	Het
Col18a1	T	C	10: 76,895,808 (GRCm39)	E903G	probably benign	Het
Ctrc	T	A	4: 141,565,972 (GRCm39)	I229F	probably damaging	Het
Cyb561d2	C	T	9: 107,418,771 (GRCm39)	A18T	probably benign	Het
Dnajb4	T	A	3: 151,899,089 (GRCm39)	K46*	probably null	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dsg1c	C	T	18: 20,410,016 (GRCm39)	H495Y	probably benign	Het
Eif2b3	A	G	4: 116,879,414 (GRCm39)	D18G	probably damaging	Het
Enam	A	T	5: 88,651,385 (GRCm39)	I965L	probably benign	Het
Fhod3	T	A	18: 25,248,910 (GRCm39)	I1363K	probably damaging	Het
Fras1	A	G	5: 96,855,245 (GRCm39)	Y1918C	probably damaging	Het
Fsip2	T	A	2: 82,823,296 (GRCm39)	I6343N	possibly damaging	Het
Gpr45	G	C	1: 43,072,475 (GRCm39)	V373L	probably damaging	Het
Hspa12b	A	G	2: 130,980,389 (GRCm39)	T103A	possibly damaging	Het
Ifrd1	A	T	12: 40,262,350 (GRCm39)	S287T	probably benign	Het
Igkv6-15	G	A	6: 70,383,622 (GRCm39)	P60S	possibly damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kctd19	T	A	8: 106,122,069 (GRCm39)	D109V	unknown	Het
Matn4	G	A	2: 164,234,851 (GRCm39)	S540L	probably damaging	Het
Matn4	T	C	2: 164,241,682 (GRCm39)	K248E	probably benign	Het
Muc16	G	A	9: 18,420,206 (GRCm39)	Q97*	probably null	Het
Mup18	A	G	4: 61,592,238 (GRCm39)	C9R	unknown	Het
Myh1	A	G	11: 67,113,031 (GRCm39)	K1845R	probably damaging	Het
Mysm1	G	A	4: 94,848,627 (GRCm39)	R469*	probably null	Het
Naip1	T	C	13: 100,563,509 (GRCm39)	D552G	possibly damaging	Het
Nrcam	A	G	12: 44,618,371 (GRCm39)	D787G	probably benign	Het
Nrcam	G	A	12: 44,645,365 (GRCm39)	V1256I	probably damaging	Het
Obscn	G	T	11: 58,932,980 (GRCm39)	H4799N	possibly damaging	Het
Or1f12	T	C	13: 21,722,122 (GRCm39)	K3E	probably benign	Het
Or4p4	A	G	2: 88,482,729 (GRCm39)	K78E	probably damaging	Het
Or52e18	T	C	7: 104,609,356 (GRCm39)	I194M	probably damaging	Het
Or7g22	A	G	9: 19,048,353 (GRCm39)	I21M	probably benign	Het
Pcdhgb5	T	C	18: 37,866,302 (GRCm39)	F699S	probably damaging	Het
Phtf2	T	C	5: 21,007,038 (GRCm39)	E175G	probably benign	Het
Pira1	G	A	7: 3,740,075 (GRCm39)	T340I	probably damaging	Het
Ppp2r5c	A	G	12: 110,517,519 (GRCm39)	H218R	possibly damaging	Het
Ptgs2	A	G	1: 149,979,785 (GRCm39)	R297G	probably damaging	Het
Rapgef3	A	T	15: 97,648,747 (GRCm39)	D619E	probably benign	Het
Ric1	G	A	19: 29,552,191 (GRCm39)	V321I	probably benign	Het
Ripor1	T	C	8: 106,344,105 (GRCm39)	V413A	probably damaging	Het
Rsf1	G	T	7: 97,288,464 (GRCm39)		probably null	Het
Sccpdh	A	G	1: 179,504,017 (GRCm39)	D122G	probably damaging	Het
Sec16a	A	T	2: 26,331,441 (GRCm39)	H191Q	probably benign	Het
Slco1a5	G	T	6: 142,208,418 (GRCm39)	N124K	probably damaging	Het
Snrnp200	A	G	2: 127,071,051 (GRCm39)	T1111A	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Tanc2	T	A	11: 105,725,988 (GRCm39)	V384E	probably damaging	Het
Tbrg1	A	G	9: 37,568,296 (GRCm39)	F49L	possibly damaging	Het
Tecta	A	G	9: 42,288,927 (GRCm39)	F546S	probably damaging	Het
Tmem132c	A	G	5: 127,437,176 (GRCm39)	R222G	probably benign	Het
Trub2	C	T	2: 29,668,739 (GRCm39)		probably null	Het
Tti1	G	T	2: 157,849,418 (GRCm39)	P607Q	probably damaging	Het
Vmn1r62	T	A	7: 5,678,726 (GRCm39)	F136I	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,469 (GRCm39)	H179L	probably benign	Het
Wdfy4	A	T	14: 32,699,063 (GRCm39)	C2703*	probably null	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wipf3	A	G	6: 54,460,816 (GRCm39)	K88R	probably benign	Het
Zfp641	C	T	15: 98,186,856 (GRCm39)	G256R	probably damaging	Het
Zfp993	T	A	4: 146,741,972 (GRCm39)	C99S	probably benign	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
R6109:Hdac2	UTSW	10	36,862,385 (GRCm39)	missense	probably null	0.83
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
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'- TGATCAGAACGGGCTGTGTC -3'
(R):5'- TGAACCATTCCCTGTGTACC -3'

Sequencing Primer
(F):5'- CTCCCATAGACCAGTTGTATGAC -3'
(R):5'- ATTCCCTGTGTACCTTCAATTTTAAG -3'

Posted On

2020-06-30