Mutagenetix > Incidental Mutation

Incidental Mutation 'R7613:Hdac2'

588727

Institutional Source

Beutler Lab

Gene Symbol

Hdac2

Ensembl Gene

ENSMUSG00000019777

Gene Name

histone deacetylase 2

Synonyms

D10Wsu179e, Yy1bp

MMRRC Submission

045681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7613 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36850540-36877885 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36865232 bp (GRCm39)

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

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: S149P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777
AA Change: S149P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adgrb2	CTATA	CTATATA	4: 129,915,006 (GRCm39)		probably benign	Het
Adh1	T	A	3: 137,992,592 (GRCm39)	L236*	probably null	Het
Akt2	A	G	7: 27,336,595 (GRCm39)	I448V	probably benign	Het
Anapc5	G	A	5: 122,956,928 (GRCm39)	T117M	probably damaging	Het
Cacna1d	A	T	14: 29,788,120 (GRCm39)	D1605E	probably benign	Het
Celsr2	C	T	3: 108,302,956 (GRCm39)	G2506R	probably damaging	Het
Cenpe	T	A	3: 134,948,063 (GRCm39)	F31L	possibly damaging	Het
Cenpj	G	A	14: 56,764,501 (GRCm39)	R1304*	probably null	Het
Cfap58	A	G	19: 47,970,561 (GRCm39)	D593G	possibly damaging	Het
Crip2	T	C	12: 113,107,777 (GRCm39)		probably null	Het
Crocc2	G	T	1: 93,122,311 (GRCm39)	A735S	possibly damaging	Het
Dnah2	A	G	11: 69,439,816 (GRCm39)		probably null	Het
Dpp8	C	T	9: 64,960,402 (GRCm39)	T311M	possibly damaging	Het
Eps15	T	C	4: 109,186,922 (GRCm39)	S330P	probably damaging	Het
Exoc2	C	T	13: 31,066,255 (GRCm39)	V474I	probably benign	Het
Foxn2	T	C	17: 88,794,311 (GRCm39)	I416T	possibly damaging	Het
Gbp8	T	C	5: 105,178,880 (GRCm39)	E145G	probably damaging	Het
Gm3676	T	A	14: 41,365,233 (GRCm39)	I141L	probably benign	Het
Gm4131	A	G	14: 62,718,538 (GRCm39)	Y23H	possibly damaging	Het
Gucy1b1	T	A	3: 81,947,054 (GRCm39)	D385V	possibly damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igsf9b	A	T	9: 27,245,418 (GRCm39)	R1128S	probably benign	Het
Invs	A	G	4: 48,392,668 (GRCm39)	H294R	probably damaging	Het
Kansl3	G	A	1: 36,382,876 (GRCm39)	S812F	probably damaging	Het
Katnbl1	T	C	2: 112,239,538 (GRCm39)	S246P	probably benign	Het
Kcnt1	A	T	2: 25,791,358 (GRCm39)	H567L	probably benign	Het
Krt33a	A	G	11: 99,902,765 (GRCm39)	I353T	probably damaging	Het
Lrguk	A	T	6: 34,078,683 (GRCm39)	R639S	possibly damaging	Het
Lrrc37	G	T	11: 103,507,116 (GRCm39)	H1617Q	unknown	Het
Mcoln2	A	T	3: 145,881,299 (GRCm39)		probably null	Het
Myo15a	A	G	11: 60,395,978 (GRCm39)	T1438A		Het
Myocd	A	G	11: 65,109,429 (GRCm39)	L114P	probably damaging	Het
Nutm1	T	C	2: 112,079,584 (GRCm39)	N777S	probably benign	Het
Or5b21	A	T	19: 12,839,141 (GRCm39)	M1L	probably benign	Het
Pde4b	A	G	4: 102,112,503 (GRCm39)	E29G	probably damaging	Het
Plekhn1	G	A	4: 156,309,277 (GRCm39)	P210S	probably benign	Het
Por	G	T	5: 135,758,358 (GRCm39)	A112S	probably damaging	Het
Prkcq	T	C	2: 11,304,221 (GRCm39)	F651S	probably damaging	Het
Rnf148	A	C	6: 23,654,979 (GRCm39)	S6A	probably benign	Het
Selenoi	A	G	5: 30,471,926 (GRCm39)	I376V	possibly damaging	Het
Skint6	A	T	4: 113,034,243 (GRCm39)		probably null	Het
Tdrd6	T	C	17: 43,938,817 (GRCm39)	T744A	probably benign	Het
Tet2	T	A	3: 133,172,509 (GRCm39)	T1918S	possibly damaging	Het
Ttc28	C	A	5: 111,371,995 (GRCm39)	L846M	probably damaging	Het
Ubxn2a	A	T	12: 4,933,832 (GRCm39)	V193D	possibly damaging	Het
Umodl1	T	A	17: 31,207,031 (GRCm39)	C807*	probably null	Het
Upf2	T	A	2: 5,978,347 (GRCm39)	S404T	unknown	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp53	A	T	3: 122,743,467 (GRCm39)	S490T	probably benign	Het
Wscd1	T	C	11: 71,650,799 (GRCm39)	L42P	possibly damaging	Het
Xirp2	T	C	2: 67,344,842 (GRCm39)	I2361T	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
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'- CTTTGCTTTTGAATGCCAAACC -3'
(R):5'- TGCAGGGGCTCACAACAAAC -3'

Sequencing Primer
(F):5'- CATGGCATATTTAATAGGGCTTCGC -3'
(R):5'- CCCTGGAAGACTCAGCATTAATC -3'

Posted On

2019-10-24