Mutagenetix > Incidental Mutations

Incidental Mutation 'R0012:Chd2'

8103

Institutional Source

Beutler Lab

Gene Symbol

Chd2

Ensembl Gene

ENSMUSG00000078671

Gene Name

chromodomain helicase DNA binding protein 2

Synonyms

2810040A01Rik, 2810013C04Rik, 5630401D06Rik

MMRRC Submission

038307-MU

Accession Numbers

Genbank: NM_001081345; Ensembl: ENSMUST00000169922; MGI: 2448567

Is this an essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R0012 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73426638-73541830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73455519 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 192 (T192K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169922] [ENSMUST00000181971]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000038366

Predicted Effect

probably benign
Transcript: ENSMUST00000169922
AA Change: T1286K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126352
Gene: ENSMUSG00000078671
AA Change: T1286K

Domain	Start	End	E-Value	Type
low complexity region	13	75	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
low complexity region	126	136	N/A	INTRINSIC
low complexity region	176	196	N/A	INTRINSIC
low complexity region	235	244	N/A	INTRINSIC
CHROMO	260	346	3.64e-19	SMART
CHROMO	376	449	7.99e-16	SMART
DEXDc	480	677	1.93e-37	SMART
Blast:DEXDc	678	729	2e-18	BLAST
low complexity region	793	806	N/A	INTRINSIC
HELICc	821	905	1.2e-24	SMART
Blast:DEXDc	960	1244	4e-63	BLAST
PDB:4B4C\|A	1128	1316	5e-78	PDB
low complexity region	1317	1329	N/A	INTRINSIC
low complexity region	1338	1351	N/A	INTRINSIC
low complexity region	1389	1403	N/A	INTRINSIC
low complexity region	1407	1441	N/A	INTRINSIC
DUF4208	1451	1555	1.85e-52	SMART
low complexity region	1557	1572	N/A	INTRINSIC
low complexity region	1704	1729	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181971
AA Change: T25K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000199809
AA Change: T192K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206316

Meta Mutation Damage Score

0.1113

Coding Region Coverage

1x: 78.7%
3x: 69.0%
10x: 44.7%
20x: 26.0%

Validation Efficiency

91% (95/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit early postnatal lethality associated with fetal growth retardation. Mice heterozygous for a gene trap allele exhibit postnatal lethality and premature death after weaning associated with growth retardation and multi-organ defects. [provided by MGI curators]

Allele List at MGI

All alleles(169) : Targeted, knock-out(1) Gene trapped(168)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	A	G	5: 139,307,734		probably benign	Het
Bnip3	A	G	7: 138,898,672		probably benign	Het
Brwd1	A	C	16: 96,059,652	S311R	probably damaging	Het
C2cd3	G	A	7: 100,418,522	V871M	possibly damaging	Het
Chrna10	T	C	7: 102,115,057	N40S	possibly damaging	Het
Copb1	T	A	7: 114,237,408	K366N	probably damaging	Het
Dpysl4	T	G	7: 139,097,883	I412S	probably benign	Het
E130309D02Rik	A	G	5: 143,314,182	L137P	probably damaging	Het
Fat2	A	G	11: 55,262,871	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,621,994	F101S	probably damaging	Het
Gcnt3	T	C	9: 70,034,085	I400M	probably benign	Het
Gm2962	T	A	1: 170,925,339		probably benign	Het
Gsap	T	A	5: 21,226,229		probably benign	Het
Hipk1	A	G	3: 103,763,680	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,260,725	I17F	probably damaging	Het
Kif17	T	G	4: 138,293,748	S606A	probably damaging	Het
Lypd4	A	G	7: 24,865,332	L127P	probably damaging	Het
Lyst	A	G	13: 13,687,694	H2605R	probably benign	Het
Map3k4	A	G	17: 12,238,189	S1289P	probably damaging	Het
Mob1b	G	A	5: 88,756,084		probably benign	Het
Mthfd2l	A	T	5: 90,961,383	H224L	probably damaging	Het
Nectin2	T	C	7: 19,730,744		probably benign	Het
Rae1	T	A	2: 173,002,673	F4I	unknown	Het
Ralgapa2	A	G	2: 146,412,752	Y821H	probably benign	Het
Sharpin	G	T	15: 76,348,343	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,999,629	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,228,549	V1061A	probably benign	Het
Suclg1	A	G	6: 73,270,997	T234A	possibly damaging	Het
Tet2	T	C	3: 133,476,558	Y1215C	probably damaging	Het
Tjp1	A	G	7: 65,329,775		probably benign	Het
Tnpo3	T	C	6: 29,589,177	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,444,718	M464K	probably damaging	Het
Trpm1	A	G	7: 64,268,591	S560G	possibly damaging	Het
Unc80	T	C	1: 66,507,391	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,395,040		probably benign	Het
Zfp644	T	G	5: 106,635,043	E1155A	probably benign	Het

Other mutations in Chd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Chd2	APN	7	73468577	missense	probably damaging	0.99
IGL00535:Chd2	APN	7	73540828	missense	probably benign	0.01
IGL00961:Chd2	APN	7	73444249	missense	probably damaging	0.99
IGL01092:Chd2	APN	7	73441686	missense	possibly damaging	0.69
IGL02035:Chd2	APN	7	73441627	intron	probably null
IGL02083:Chd2	APN	7	73481068	missense	possibly damaging	0.95
IGL02205:Chd2	APN	7	73441717	missense	probably benign	0.01
IGL02243:Chd2	APN	7	73497708	unclassified	probably null
IGL02385:Chd2	APN	7	73435822	missense	probably damaging	1.00
IGL02552:Chd2	APN	7	73447320	unclassified	probably benign
IGL02590:Chd2	APN	7	73453200	missense	probably benign	0.00
IGL02684:Chd2	APN	7	73475349	missense	probably damaging	0.99
IGL02731:Chd2	APN	7	73493456	missense	probably damaging	0.99
IGL03272:Chd2	APN	7	73453166	missense	possibly damaging	0.94
1mM(1):Chd2	UTSW	7	73502104	missense	possibly damaging	0.65
A4554:Chd2	UTSW	7	73480968	missense	probably benign
F6893:Chd2	UTSW	7	73507872	missense	possibly damaging	0.92
R0012:Chd2	UTSW	7	73455519	missense	probably damaging	1.00
R0068:Chd2	UTSW	7	73484534	missense	probably damaging	1.00
R0763:Chd2	UTSW	7	73447274	missense	possibly damaging	0.74
R0973:Chd2	UTSW	7	73478664	missense	probably damaging	1.00
R0973:Chd2	UTSW	7	73478664	missense	probably damaging	1.00
R0974:Chd2	UTSW	7	73478664	missense	probably damaging	1.00
R1223:Chd2	UTSW	7	73484517	missense	probably damaging	1.00
R1435:Chd2	UTSW	7	73453136	missense	probably damaging	0.99
R1527:Chd2	UTSW	7	73490614	nonsense	probably null
R1599:Chd2	UTSW	7	73473051	missense	probably benign	0.05
R1657:Chd2	UTSW	7	73480430	missense	probably damaging	1.00
R1932:Chd2	UTSW	7	73454445	missense	probably damaging	0.99
R2110:Chd2	UTSW	7	73429987	missense	probably benign	0.00
R2202:Chd2	UTSW	7	73478668	missense	probably benign	0.00
R2383:Chd2	UTSW	7	73503420	missense	possibly damaging	0.89
R2393:Chd2	UTSW	7	73507883	missense	possibly damaging	0.92
R3699:Chd2	UTSW	7	73468490	missense	probably benign	0.35
R3713:Chd2	UTSW	7	73471790	unclassified	probably benign
R3788:Chd2	UTSW	7	73447130	unclassified	probably benign
R3826:Chd2	UTSW	7	73491415	missense	possibly damaging	0.71
R3828:Chd2	UTSW	7	73491415	missense	possibly damaging	0.71
R3830:Chd2	UTSW	7	73491415	missense	possibly damaging	0.71
R3966:Chd2	UTSW	7	73464395	splice site	probably benign
R4093:Chd2	UTSW	7	73501016	missense	possibly damaging	0.70
R4431:Chd2	UTSW	7	73435961	missense	possibly damaging	0.56
R4461:Chd2	UTSW	7	73540874	intron	probably benign
R4782:Chd2	UTSW	7	73484436	missense	possibly damaging	0.80
R4791:Chd2	UTSW	7	73468577	missense	probably benign	0.13
R4792:Chd2	UTSW	7	73468577	missense	probably benign	0.13
R4799:Chd2	UTSW	7	73484436	missense	possibly damaging	0.80
R4832:Chd2	UTSW	7	73502125	missense	probably damaging	1.00
R5055:Chd2	UTSW	7	73480508	missense	probably damaging	1.00
R5071:Chd2	UTSW	7	73429689	missense	probably benign	0.03
R5328:Chd2	UTSW	7	73463681	missense	possibly damaging	0.96
R5444:Chd2	UTSW	7	73473085	missense	probably damaging	1.00
R5643:Chd2	UTSW	7	73484484	missense	probably damaging	1.00
R5666:Chd2	UTSW	7	73441717	missense	probably benign	0.01
R5670:Chd2	UTSW	7	73441717	missense	probably benign	0.01
R5706:Chd2	UTSW	7	73491357	missense	possibly damaging	0.74
R5825:Chd2	UTSW	7	73484602	splice site	probably null
R5834:Chd2	UTSW	7	73478715	missense	probably damaging	1.00
R5920:Chd2	UTSW	7	73537312	missense	probably damaging	0.97
R6051:Chd2	UTSW	7	73435842	missense	probably benign	0.00
R6179:Chd2	UTSW	7	73444323	missense	probably damaging	0.98
R6229:Chd2	UTSW	7	73451723	missense	possibly damaging	0.76
R6267:Chd2	UTSW	7	73463671	missense	probably damaging	0.99
R6310:Chd2	UTSW	7	73453164	missense	probably damaging	1.00
R6439:Chd2	UTSW	7	73480406	missense	probably damaging	1.00
R6444:Chd2	UTSW	7	73501037	critical splice acceptor site	probably null
R6529:Chd2	UTSW	7	73503443	missense	possibly damaging	0.89
R6611:Chd2	UTSW	7	73493565	missense	probably damaging	0.99
R6661:Chd2	UTSW	7	73490482	missense	possibly damaging	0.95
R6782:Chd2	UTSW	7	73475379	nonsense	probably null
R6860:Chd2	UTSW	7	73497810	missense	possibly damaging	0.95
R6955:Chd2	UTSW	7	73475423	missense	probably damaging	1.00
R6984:Chd2	UTSW	7	73484411	nonsense	probably null
R7095:Chd2	UTSW	7	73471881	missense	probably damaging	1.00
R7121:Chd2	UTSW	7	73469670	missense	probably benign	0.00
R7179:Chd2	UTSW	7	73475420	missense	probably damaging	1.00
R7500:Chd2	UTSW	7	73451808	missense	probably damaging	1.00
R7615:Chd2	UTSW	7	73441642	missense	probably damaging	0.97
R7646:Chd2	UTSW	7	73435773	missense	possibly damaging	0.49
R7764:Chd2	UTSW	7	73471819	missense	probably null	1.00
RF009:Chd2	UTSW	7	73519662	missense	possibly damaging	0.73
X0025:Chd2	UTSW	7	73507837	missense	probably benign	0.11

Posted On

2012-11-20