Incidental Mutation 'R5643:Chd2'
ID 440856
Institutional Source Beutler Lab
Gene Symbol Chd2
Ensembl Gene ENSMUSG00000078671
Gene Name chromodomain helicase DNA binding protein 2
Synonyms 5630401D06Rik, 2810013C04Rik, 2810040A01Rik
MMRRC Submission 043291-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R5643 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 73076400-73191494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73134232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 705 (V705E)
Ref Sequence ENSEMBL: ENSMUSP00000126352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169922]
AlphaFold E9PZM4
Predicted Effect probably damaging
Transcript: ENSMUST00000169922
AA Change: V705E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126352
Gene: ENSMUSG00000078671
AA Change: V705E

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000199831
Predicted Effect probably benign
Transcript: ENSMUST00000200423
Meta Mutation Damage Score 0.9617 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (110/117)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,988,021 (GRCm39) K3102E possibly damaging Het
Akap13 T C 7: 75,351,902 (GRCm39) probably null Het
Akp3 A T 1: 87,055,485 (GRCm39) T511S unknown Het
Alkal2 T A 12: 30,934,889 (GRCm39) L36Q probably damaging Het
Arhgef17 A T 7: 100,529,218 (GRCm39) V523E probably damaging Het
Asah1 G T 8: 41,813,332 (GRCm39) T27K possibly damaging Het
Bag2 A G 1: 33,786,034 (GRCm39) V96A probably damaging Het
Bicd1 C T 6: 149,421,901 (GRCm39) A874V probably damaging Het
C4b T C 17: 34,961,391 (GRCm39) I189M probably benign Het
Calcr A G 6: 3,708,538 (GRCm39) I216T probably damaging Het
Cdk5rap2 T A 4: 70,184,970 (GRCm39) D1160V probably damaging Het
Cep128 A T 12: 91,315,625 (GRCm39) I87K probably damaging Het
Cep170b C G 12: 112,707,275 (GRCm39) H1256Q probably benign Het
Clec12b T A 6: 129,356,923 (GRCm39) I172L probably benign Het
Cobl A T 11: 12,256,948 (GRCm39) probably benign Het
Col5a2 T A 1: 45,429,202 (GRCm39) D972V probably damaging Het
Csrp1 A T 1: 135,678,797 (GRCm39) N174I probably damaging Het
Dnah7a T A 1: 53,444,866 (GRCm39) H3946L probably benign Het
Dnajc21 A T 15: 10,462,001 (GRCm39) D133E probably benign Het
Dvl3 T A 16: 20,345,026 (GRCm39) I353N probably damaging Het
Elavl3 A T 9: 21,930,029 (GRCm39) S292T probably benign Het
Ephb2 T C 4: 136,498,923 (GRCm39) N52S probably damaging Het
Gaa T A 11: 119,171,361 (GRCm39) M671K possibly damaging Het
Gabrg3 T C 7: 56,423,032 (GRCm39) D222G possibly damaging Het
Gk5 C T 9: 96,022,709 (GRCm39) Q182* probably null Het
Gm14403 A T 2: 177,199,054 (GRCm39) H50L possibly damaging Het
Gzma T C 13: 113,234,794 (GRCm39) T66A probably damaging Het
Hint2 T C 4: 43,656,445 (GRCm39) probably benign Het
Hnmt A T 2: 23,904,251 (GRCm39) W137R probably damaging Het
Hoga1 T C 19: 42,048,402 (GRCm39) V90A probably benign Het
Idua A T 5: 108,828,090 (GRCm39) probably benign Het
Kif1a A C 1: 92,983,489 (GRCm39) S669R probably damaging Het
Klhdc7b A T 15: 89,271,862 (GRCm39) M915L possibly damaging Het
Klhl41 A G 2: 69,500,815 (GRCm39) Y92C probably damaging Het
Klrc2 A T 6: 129,633,420 (GRCm39) C186S probably damaging Het
Lmo7 A G 14: 102,166,772 (GRCm39) probably benign Het
Lrriq1 T C 10: 103,051,301 (GRCm39) M484V probably benign Het
Lzts1 A G 8: 69,591,729 (GRCm39) S140P possibly damaging Het
Mgat5b T A 11: 116,864,226 (GRCm39) V464E probably damaging Het
Mms19 A T 19: 41,944,305 (GRCm39) D298E possibly damaging Het
Muc5ac T C 7: 141,347,452 (GRCm39) probably null Het
Mycbp2 T A 14: 103,524,770 (GRCm39) K597I probably damaging Het
Myo18a C A 11: 77,745,513 (GRCm39) D1619E probably benign Het
Nfx1 T C 4: 40,984,973 (GRCm39) W366R probably null Het
Nipbl C T 15: 8,388,391 (GRCm39) V410I probably benign Het
Or14j10 T A 17: 37,935,323 (GRCm39) I68F probably benign Het
Or4c101 T A 2: 88,389,849 (GRCm39) M1K probably null Het
Or4f60 A T 2: 111,902,013 (GRCm39) M305K probably benign Het
Or52h1 T C 7: 103,829,091 (GRCm39) I175V probably benign Het
Or5b95 A T 19: 12,658,336 (GRCm39) Y288F probably damaging Het
Or7g32 A T 9: 19,388,853 (GRCm39) M231K probably benign Het
Or8u10 T C 2: 85,915,503 (GRCm39) N206S probably damaging Het
Otog A T 7: 45,936,871 (GRCm39) T1527S probably damaging Het
P2ry12 A T 3: 59,125,516 (GRCm39) M53K possibly damaging Het
Pask A G 1: 93,265,065 (GRCm39) probably null Het
Pcca G A 14: 123,124,481 (GRCm39) C684Y probably damaging Het
Pcdhb10 A G 18: 37,546,219 (GRCm39) T432A possibly damaging Het
Peak1 T C 9: 56,166,039 (GRCm39) N630D probably damaging Het
Plbd2 A T 5: 120,631,231 (GRCm39) probably null Het
Plekhg5 T C 4: 152,188,797 (GRCm39) V200A probably benign Het
Pola2 A G 19: 6,011,198 (GRCm39) V42A probably benign Het
Ppfibp2 T A 7: 107,337,097 (GRCm39) W572R probably damaging Het
Ppp6r1 C T 7: 4,636,771 (GRCm39) E679K probably benign Het
Pramel11 A T 4: 143,622,337 (GRCm39) H339Q probably damaging Het
Prdx3 G A 19: 60,859,963 (GRCm39) A70V probably damaging Het
Prkd2 T C 7: 16,577,717 (GRCm39) F57L probably benign Het
Prodh2 A G 7: 30,206,171 (GRCm39) T324A possibly damaging Het
Ptdss1 T C 13: 67,120,604 (GRCm39) F267L probably damaging Het
Rai14 T A 15: 10,593,137 (GRCm39) H169L probably benign Het
Rere A G 4: 150,701,700 (GRCm39) H1360R probably damaging Het
Rfc3 C T 5: 151,573,444 (GRCm39) V40I probably benign Het
Rims1 T A 1: 22,577,590 (GRCm39) T219S probably damaging Het
Rnf169 T C 7: 99,576,338 (GRCm39) R289G possibly damaging Het
Senp7 T C 16: 56,004,512 (GRCm39) silent Het
Sfmbt2 A T 2: 10,573,184 (GRCm39) I571F probably damaging Het
Slc11a2 C A 15: 100,301,068 (GRCm39) K328N probably benign Het
Slc25a10 A G 11: 120,387,202 (GRCm39) probably benign Het
Slc38a8 T C 8: 120,207,488 (GRCm39) *433W probably null Het
Slco1a5 A C 6: 142,183,320 (GRCm39) probably null Het
Smc6 T A 12: 11,339,995 (GRCm39) N434K probably benign Het
Syndig1 A T 2: 149,741,428 (GRCm39) I5F possibly damaging Het
Syt5 T C 7: 4,546,018 (GRCm39) Q124R probably benign Het
Taok3 A C 5: 117,344,785 (GRCm39) M171L probably benign Het
Tbrg1 T C 9: 37,560,709 (GRCm39) D389G probably benign Het
Tcaf2 G A 6: 42,619,707 (GRCm39) R107C possibly damaging Het
Tex14 C A 11: 87,426,452 (GRCm39) H1159Q probably damaging Het
Tmprss11d T A 5: 86,474,388 (GRCm39) M190L probably benign Het
Ttn T A 2: 76,768,867 (GRCm39) T2856S probably damaging Het
Ubr4 T A 4: 139,171,998 (GRCm39) M2997K probably damaging Het
Unc5c C T 3: 141,383,886 (GRCm39) A88V probably damaging Het
Use1 T C 8: 71,820,398 (GRCm39) probably benign Het
Vmn1r43 T C 6: 89,847,354 (GRCm39) N44S probably damaging Het
Vmn1r89 T A 7: 12,954,146 (GRCm39) V294D possibly damaging Het
Vmn2r11 A T 5: 109,194,869 (GRCm39) V819E probably damaging Het
Vmn2r120 T A 17: 57,831,977 (GRCm39) M271L probably benign Het
Vmn2r52 T C 7: 9,905,059 (GRCm39) Y260C probably damaging Het
Vmn2r67 T A 7: 84,799,151 (GRCm39) R519* probably null Het
Vmn2r69 T A 7: 85,056,404 (GRCm39) D578V probably damaging Het
Vmn2r85 T C 10: 130,262,343 (GRCm39) Y132C probably damaging Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp318 T A 17: 46,720,170 (GRCm39) probably benign Het
Zfp810 A T 9: 22,194,467 (GRCm39) S74T probably benign Het
Other mutations in Chd2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6229:Chd2 UTSW 7 73,101,471 (GRCm39) missense possibly damaging 0.76
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'- GCCAAGATTTACAAGGTTCTAGG -3'
(R):5'- TCCTGGCAGGACAGATTGAG -3'

Sequencing Primer
(F):5'- AAGATTTACAAGGTTCTAGGCTTAAC -3'
(R):5'- CCTACCCCTAGATCAGTTCT -3'
Posted On 2016-11-08