Mutagenetix > Incidental Mutation

Incidental Mutation 'R6229:Chd2'

504554

Institutional Source

Beutler Lab

Gene Symbol

Chd2

Ensembl Gene

ENSMUSG00000078671

Gene Name

chromodomain helicase DNA binding protein 2

Synonyms

5630401D06Rik, 2810013C04Rik, 2810040A01Rik

MMRRC Submission

044358-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R6229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73076400-73191494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73101471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1418 (K1418N)

Ref Sequence

ENSEMBL: ENSMUSP00000126352 (fasta)

Gene Model

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

AlphaFold

E9PZM4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000038366

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169922
AA Change: K1418N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126352
Gene: ENSMUSG00000078671
AA Change: K1418N

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: ENSMUST00000173785

SMART Domains

Protein: ENSMUSP00000133714
Gene: ENSMUSG00000078671

Domain	Start	End	E-Value	Type
DUF4208	1	58	1.59e-4	SMART
low complexity region	60	75	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181971

Predicted Effect

probably benign
Transcript: ENSMUST00000199809

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	A	1: 120,099,213 (GRCm39)		probably null	Het
Adamts6	G	A	13: 104,483,900 (GRCm39)		probably null	Het
Add3	C	A	19: 53,223,277 (GRCm39)	A343D	probably benign	Het
Ankub1	T	C	3: 57,572,528 (GRCm39)	D398G	probably benign	Het
Apbb1	C	T	7: 105,222,937 (GRCm39)	A225T	probably damaging	Het
Apbb1	C	A	7: 105,222,938 (GRCm39)	W224C	probably damaging	Het
Arhgef40	A	T	14: 52,227,547 (GRCm39)	Q431L	probably benign	Het
Calm4	A	G	13: 3,888,038 (GRCm39)	D48G	possibly damaging	Het
Ccdc18	A	T	5: 108,319,484 (GRCm39)	I502L	probably benign	Het
Cftr	T	C	6: 18,220,683 (GRCm39)	S185P	probably damaging	Het
Cmya5	A	C	13: 93,229,814 (GRCm39)	V1758G	probably benign	Het
Cpsf4l	T	C	11: 113,599,680 (GRCm39)	K35R	possibly damaging	Het
Cyp2c68	A	T	19: 39,727,622 (GRCm39)	V119E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah3	G	T	7: 119,564,711 (GRCm39)	Q2651K	probably benign	Het
Eif4g2	T	C	7: 110,676,920 (GRCm39)		probably null	Het
Enc1	A	G	13: 97,381,999 (GRCm39)	R170G	probably benign	Het
Enpp2	T	C	15: 54,741,228 (GRCm39)	R357G	probably damaging	Het
Epb41l2	A	G	10: 25,375,734 (GRCm39)	K58E	possibly damaging	Het
Fis1	A	G	5: 136,994,528 (GRCm39)		probably null	Het
Fmo9	A	C	1: 166,505,126 (GRCm39)	M89R	possibly damaging	Het
Gm6096	A	C	7: 33,950,676 (GRCm39)	I72L	possibly damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Got1l1	T	C	8: 27,688,464 (GRCm39)		probably null	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Igfbpl1	A	G	4: 45,813,517 (GRCm39)	Y233H	probably damaging	Het
Il18r1	T	C	1: 40,513,923 (GRCm39)	I43T	probably benign	Het
Ints8	T	C	4: 11,252,891 (GRCm39)	N64D	probably damaging	Het
Kalrn	A	G	16: 33,875,441 (GRCm39)	S44P	probably damaging	Het
Kif13b	G	T	14: 64,976,016 (GRCm39)	G444W	probably damaging	Het
Lmo1	A	G	7: 108,742,832 (GRCm39)	C13R	probably damaging	Het
Lrfn2	T	A	17: 49,404,160 (GRCm39)	M761K	possibly damaging	Het
Lrrd1	T	C	5: 3,913,887 (GRCm39)	I719T	probably damaging	Het
Madd	A	T	2: 90,974,015 (GRCm39)	V1423E	probably damaging	Het
Mbnl1	T	A	3: 60,528,749 (GRCm39)		probably null	Het
Mrps28	T	C	3: 8,965,097 (GRCm39)	D114G	probably damaging	Het
Muc6	T	A	7: 141,226,792 (GRCm39)	M1412L	probably benign	Het
Myf6	T	C	10: 107,330,280 (GRCm39)	K96E	possibly damaging	Het
Myrf	A	G	19: 10,197,162 (GRCm39)	V462A	probably benign	Het
Nbeal1	T	C	1: 60,287,524 (GRCm39)	S923P	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nfatc2ip	C	T	7: 125,995,113 (GRCm39)		probably null	Het
Or11g24	A	G	14: 50,662,662 (GRCm39)	R229G	probably benign	Het
Or12e10	G	T	2: 87,640,431 (GRCm39)	C89F	probably damaging	Het
Or2w4	T	C	13: 21,795,819 (GRCm39)	I107V	probably benign	Het
Or7g33	T	A	9: 19,449,014 (GRCm39)	I71F	possibly damaging	Het
Plin2	A	G	4: 86,586,903 (GRCm39)	V5A	probably benign	Het
Pramel31	T	C	4: 144,090,199 (GRCm39)	M413T	probably benign	Het
Ptprm	T	A	17: 66,995,295 (GRCm39)	D1311V	probably damaging	Het
Recql5	A	T	11: 115,821,540 (GRCm39)	I72N	probably damaging	Het
Sall2	A	T	14: 52,550,648 (GRCm39)	M847K	probably benign	Het
Slc23a1	T	C	18: 35,752,577 (GRCm39)	R567G	probably benign	Het
Slc28a1	G	A	7: 80,774,753 (GRCm39)	R200H	probably benign	Het
Smc4	T	A	3: 68,937,580 (GRCm39)	Y843*	probably null	Het
Syne2	C	A	12: 75,967,994 (GRCm39)	Q915K	probably benign	Het
Tas2r131	T	A	6: 132,933,985 (GRCm39)	I275F	probably damaging	Het
Tcf20	T	C	15: 82,739,081 (GRCm39)	H790R	probably damaging	Het
Tm7sf3	A	G	6: 146,514,887 (GRCm39)	F310S	possibly damaging	Het
Tmem9b	T	A	7: 109,344,627 (GRCm39)		probably null	Het
Tnfaip8	A	G	18: 50,184,742 (GRCm39)		probably benign	Het
Top2b	T	G	14: 16,409,838 (GRCm38)	L835R	probably damaging	Het
Trappc8	A	T	18: 21,003,802 (GRCm39)	S209T	probably benign	Het
Uap1	C	T	1: 169,994,302 (GRCm39)	R58Q	probably benign	Het
Upk3bl	A	G	5: 136,092,915 (GRCm39)		probably null	Het
Usp34	A	G	11: 23,396,778 (GRCm39)	H596R	probably damaging	Het
Vmn1r181	C	T	7: 23,683,580 (GRCm39)	A15V	probably damaging	Het
Vmn2r54	T	A	7: 12,365,883 (GRCm39)	K350N	probably benign	Het
Vmn2r89	A	G	14: 51,693,178 (GRCm39)	H176R	probably benign	Het
Vwa7	A	G	17: 35,243,241 (GRCm39)	R640G	probably benign	Het

Other mutations in Chd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Chd2	APN	7	73,118,325 (GRCm39)	missense	probably damaging	0.99
IGL00535:Chd2	APN	7	73,190,576 (GRCm39)	missense	probably benign	0.01
IGL00961:Chd2	APN	7	73,093,997 (GRCm39)	missense	probably damaging	0.99
IGL01092:Chd2	APN	7	73,091,434 (GRCm39)	missense	possibly damaging	0.69
IGL02035:Chd2	APN	7	73,091,375 (GRCm39)	splice site	probably null
IGL02083:Chd2	APN	7	73,130,816 (GRCm39)	missense	possibly damaging	0.95
IGL02205:Chd2	APN	7	73,091,465 (GRCm39)	missense	probably benign	0.01
IGL02243:Chd2	APN	7	73,147,456 (GRCm39)	splice site	probably null
IGL02385:Chd2	APN	7	73,085,570 (GRCm39)	missense	probably damaging	1.00
IGL02552:Chd2	APN	7	73,097,068 (GRCm39)	unclassified	probably benign
IGL02590:Chd2	APN	7	73,102,948 (GRCm39)	missense	probably benign	0.00
IGL02684:Chd2	APN	7	73,125,097 (GRCm39)	missense	probably damaging	0.99
IGL02731:Chd2	APN	7	73,143,204 (GRCm39)	missense	probably damaging	0.99
IGL03272:Chd2	APN	7	73,102,914 (GRCm39)	missense	possibly damaging	0.94
1mM(1):Chd2	UTSW	7	73,151,852 (GRCm39)	missense	possibly damaging	0.65
A4554:Chd2	UTSW	7	73,130,716 (GRCm39)	missense	probably benign
F6893:Chd2	UTSW	7	73,157,620 (GRCm39)	missense	possibly damaging	0.92
R0012:Chd2	UTSW	7	73,105,267 (GRCm39)	missense	probably damaging	1.00
R0012:Chd2	UTSW	7	73,105,267 (GRCm39)	missense	probably damaging	1.00
R0068:Chd2	UTSW	7	73,134,282 (GRCm39)	missense	probably damaging	1.00
R0763:Chd2	UTSW	7	73,097,022 (GRCm39)	missense	possibly damaging	0.74
R0973:Chd2	UTSW	7	73,128,412 (GRCm39)	missense	probably damaging	1.00
R0973:Chd2	UTSW	7	73,128,412 (GRCm39)	missense	probably damaging	1.00
R0974:Chd2	UTSW	7	73,128,412 (GRCm39)	missense	probably damaging	1.00
R1223:Chd2	UTSW	7	73,134,265 (GRCm39)	missense	probably damaging	1.00
R1435:Chd2	UTSW	7	73,102,884 (GRCm39)	missense	probably damaging	0.99
R1527:Chd2	UTSW	7	73,140,362 (GRCm39)	nonsense	probably null
R1599:Chd2	UTSW	7	73,122,799 (GRCm39)	missense	probably benign	0.05
R1657:Chd2	UTSW	7	73,130,178 (GRCm39)	missense	probably damaging	1.00
R1932:Chd2	UTSW	7	73,104,193 (GRCm39)	missense	probably damaging	0.99
R2110:Chd2	UTSW	7	73,079,735 (GRCm39)	missense	probably benign	0.00
R2202:Chd2	UTSW	7	73,128,416 (GRCm39)	missense	probably benign	0.00
R2383:Chd2	UTSW	7	73,153,168 (GRCm39)	missense	possibly damaging	0.89
R2393:Chd2	UTSW	7	73,157,631 (GRCm39)	missense	possibly damaging	0.92
R3699:Chd2	UTSW	7	73,118,238 (GRCm39)	missense	probably benign	0.35
R3713:Chd2	UTSW	7	73,121,538 (GRCm39)	unclassified	probably benign
R3788:Chd2	UTSW	7	73,096,878 (GRCm39)	unclassified	probably benign
R3826:Chd2	UTSW	7	73,141,163 (GRCm39)	missense	possibly damaging	0.71
R3828:Chd2	UTSW	7	73,141,163 (GRCm39)	missense	possibly damaging	0.71
R3830:Chd2	UTSW	7	73,141,163 (GRCm39)	missense	possibly damaging	0.71
R3966:Chd2	UTSW	7	73,114,143 (GRCm39)	splice site	probably benign
R4093:Chd2	UTSW	7	73,150,764 (GRCm39)	missense	possibly damaging	0.70
R4431:Chd2	UTSW	7	73,085,709 (GRCm39)	missense	possibly damaging	0.56
R4461:Chd2	UTSW	7	73,190,622 (GRCm39)	intron	probably benign
R4782:Chd2	UTSW	7	73,134,184 (GRCm39)	missense	possibly damaging	0.80
R4791:Chd2	UTSW	7	73,118,325 (GRCm39)	missense	probably benign	0.13
R4792:Chd2	UTSW	7	73,118,325 (GRCm39)	missense	probably benign	0.13
R4799:Chd2	UTSW	7	73,134,184 (GRCm39)	missense	possibly damaging	0.80
R4832:Chd2	UTSW	7	73,151,873 (GRCm39)	missense	probably damaging	1.00
R5055:Chd2	UTSW	7	73,130,256 (GRCm39)	missense	probably damaging	1.00
R5071:Chd2	UTSW	7	73,079,437 (GRCm39)	missense	probably benign	0.03
R5328:Chd2	UTSW	7	73,113,429 (GRCm39)	missense	possibly damaging	0.96
R5444:Chd2	UTSW	7	73,122,833 (GRCm39)	missense	probably damaging	1.00
R5643:Chd2	UTSW	7	73,134,232 (GRCm39)	missense	probably damaging	1.00
R5666:Chd2	UTSW	7	73,091,465 (GRCm39)	missense	probably benign	0.01
R5670:Chd2	UTSW	7	73,091,465 (GRCm39)	missense	probably benign	0.01
R5706:Chd2	UTSW	7	73,141,105 (GRCm39)	missense	possibly damaging	0.74
R5825:Chd2	UTSW	7	73,134,350 (GRCm39)	splice site	probably null
R5834:Chd2	UTSW	7	73,128,463 (GRCm39)	missense	probably damaging	1.00
R5920:Chd2	UTSW	7	73,187,060 (GRCm39)	missense	probably damaging	0.97
R6051:Chd2	UTSW	7	73,085,590 (GRCm39)	missense	probably benign	0.00
R6179:Chd2	UTSW	7	73,094,071 (GRCm39)	missense	probably damaging	0.98
R6267:Chd2	UTSW	7	73,113,419 (GRCm39)	missense	probably damaging	0.99
R6310:Chd2	UTSW	7	73,102,912 (GRCm39)	missense	probably damaging	1.00
R6439:Chd2	UTSW	7	73,130,154 (GRCm39)	missense	probably damaging	1.00
R6444:Chd2	UTSW	7	73,150,785 (GRCm39)	critical splice acceptor site	probably null
R6529:Chd2	UTSW	7	73,153,191 (GRCm39)	missense	possibly damaging	0.89
R6611:Chd2	UTSW	7	73,143,313 (GRCm39)	missense	probably damaging	0.99
R6661:Chd2	UTSW	7	73,140,230 (GRCm39)	missense	possibly damaging	0.95
R6782:Chd2	UTSW	7	73,125,127 (GRCm39)	nonsense	probably null
R6860:Chd2	UTSW	7	73,147,558 (GRCm39)	missense	possibly damaging	0.95
R6955:Chd2	UTSW	7	73,125,171 (GRCm39)	missense	probably damaging	1.00
R6984:Chd2	UTSW	7	73,134,159 (GRCm39)	nonsense	probably null
R7095:Chd2	UTSW	7	73,121,629 (GRCm39)	missense	probably damaging	1.00
R7121:Chd2	UTSW	7	73,119,418 (GRCm39)	missense	probably benign	0.00
R7179:Chd2	UTSW	7	73,125,168 (GRCm39)	missense	probably damaging	1.00
R7500:Chd2	UTSW	7	73,101,556 (GRCm39)	missense	probably damaging	1.00
R7615:Chd2	UTSW	7	73,091,390 (GRCm39)	missense	probably damaging	0.97
R7646:Chd2	UTSW	7	73,085,521 (GRCm39)	missense	possibly damaging	0.49
R7764:Chd2	UTSW	7	73,121,567 (GRCm39)	missense	probably null	1.00
R7898:Chd2	UTSW	7	73,169,223 (GRCm39)	critical splice donor site	probably null
R7935:Chd2	UTSW	7	73,149,373 (GRCm39)	missense	probably benign	0.01
R8033:Chd2	UTSW	7	73,085,628 (GRCm39)	missense	probably damaging	1.00
R8070:Chd2	UTSW	7	73,101,506 (GRCm39)	missense	probably benign
R8071:Chd2	UTSW	7	73,187,132 (GRCm39)	missense	probably benign
R8188:Chd2	UTSW	7	73,079,504 (GRCm39)	nonsense	probably null
R8196:Chd2	UTSW	7	73,118,285 (GRCm39)	missense	probably benign	0.00
R8258:Chd2	UTSW	7	73,085,532 (GRCm39)	missense	probably benign	0.11
R8259:Chd2	UTSW	7	73,085,532 (GRCm39)	missense	probably benign	0.11
R8357:Chd2	UTSW	7	73,096,985 (GRCm39)	missense	probably damaging	0.99
R8457:Chd2	UTSW	7	73,096,985 (GRCm39)	missense	probably damaging	0.99
R8778:Chd2	UTSW	7	73,079,483 (GRCm39)	missense	possibly damaging	0.88
R8816:Chd2	UTSW	7	73,140,245 (GRCm39)	missense	probably damaging	1.00
R8875:Chd2	UTSW	7	73,151,783 (GRCm39)	missense	probably damaging	1.00
R8935:Chd2	UTSW	7	73,153,210 (GRCm39)	missense	possibly damaging	0.47
R9005:Chd2	UTSW	7	73,134,294 (GRCm39)	missense	probably damaging	0.98
R9009:Chd2	UTSW	7	73,143,192 (GRCm39)	missense	probably benign	0.39
R9009:Chd2	UTSW	7	73,140,402 (GRCm39)	missense	probably benign	0.12
R9021:Chd2	UTSW	7	73,091,393 (GRCm39)	missense	probably benign	0.03
R9038:Chd2	UTSW	7	73,105,358 (GRCm39)	missense	probably damaging	1.00
R9064:Chd2	UTSW	7	73,143,279 (GRCm39)	missense	possibly damaging	0.70
R9383:Chd2	UTSW	7	73,098,918 (GRCm39)	missense	probably null	1.00
R9501:Chd2	UTSW	7	73,130,294 (GRCm39)	missense	probably damaging	1.00
R9501:Chd2	UTSW	7	73,091,481 (GRCm39)	missense	possibly damaging	0.92
R9550:Chd2	UTSW	7	73,119,439 (GRCm39)	missense	probably damaging	0.99
R9583:Chd2	UTSW	7	73,130,230 (GRCm39)	missense	probably damaging	0.99
R9665:Chd2	UTSW	7	73,079,555 (GRCm39)	missense	probably benign	0.00
RF009:Chd2	UTSW	7	73,169,410 (GRCm39)	missense	possibly damaging	0.73
X0025:Chd2	UTSW	7	73,157,585 (GRCm39)	missense	probably benign	0.11
Z1177:Chd2	UTSW	7	73,118,334 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- ACAGCTCAAGACTGCCTAGC -3'
(R):5'- GGTAGGCTCTTAATGGAAATGACTG -3'

Sequencing Primer
(F):5'- AGCTCCCTTTCCTGTGAGAAGG -3'
(R):5'- ACTGAAGTCACTGATGAGCCCTG -3'

Posted On

2018-02-28