Incidental Mutation 'R0012:Chd2'
ID 32562
Institutional Source Beutler Lab
Gene Symbol Chd2
Ensembl Gene ENSMUSG00000078671
Gene Name chromodomain helicase DNA binding protein 2
Synonyms 5630401D06Rik, 2810013C04Rik, 2810040A01Rik
MMRRC Submission 038307-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R0012 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 73076400-73191494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73105267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 192 (T192K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169922] [ENSMUST00000181971]
AlphaFold E9PZM4
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

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 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 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 A T 2: 130,894,840 (GRCm39) L687Q probably damaging Het
Adap1 A G 5: 139,293,489 (GRCm39) probably benign Het
Add2 T A 6: 86,075,610 (GRCm39) V253E probably damaging Het
Agtr1a A T 13: 30,565,732 (GRCm39) I266F probably damaging Het
Anxa9 A G 3: 95,215,406 (GRCm39) probably benign Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
Bnip3 A G 7: 138,500,401 (GRCm39) probably benign Het
Brwd1 A C 16: 95,860,852 (GRCm39) S311R probably damaging Het
C2cd3 G A 7: 100,067,729 (GRCm39) V871M possibly damaging Het
Cacul1 A G 19: 60,552,691 (GRCm39) W145R probably damaging Het
Celf5 C A 10: 81,305,346 (GRCm39) V141L probably damaging Het
Cfap206 C A 4: 34,714,519 (GRCm39) L392F possibly damaging Het
Chrna10 T C 7: 101,764,264 (GRCm39) N40S possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clspn T A 4: 126,458,722 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col5a3 A T 9: 20,688,404 (GRCm39) probably benign Het
Copb1 T A 7: 113,836,643 (GRCm39) K366N probably damaging Het
Cul9 G A 17: 46,849,436 (GRCm39) R570C probably benign Het
Cyp2c70 A T 19: 40,175,687 (GRCm39) L7Q probably null Het
Dock2 T C 11: 34,674,622 (GRCm39) E10G possibly damaging Het
Dpysl4 T G 7: 138,677,799 (GRCm39) I412S probably benign Het
Eaf2 T A 16: 36,628,536 (GRCm39) probably benign Het
Fasl T C 1: 161,615,733 (GRCm39) D41G probably benign Het
Fat2 A G 11: 55,153,697 (GRCm39) V3505A probably benign Het
Fbxo24 A G 5: 137,620,256 (GRCm39) F101S probably damaging Het
Fdft1 T C 14: 63,415,147 (GRCm39) I28M probably benign Het
Gcnt3 T C 9: 69,941,367 (GRCm39) I400M probably benign Het
Get3 T C 8: 85,751,725 (GRCm39) probably benign Het
Gpd2 T A 2: 57,228,880 (GRCm39) M228K probably damaging Het
Gsap T A 5: 21,431,227 (GRCm39) probably benign Het
Hipk1 A G 3: 103,670,996 (GRCm39) M467T probably damaging Het
Hmgb4 T A 4: 128,154,518 (GRCm39) I17F probably damaging Het
Ints10 C A 8: 69,260,127 (GRCm39) L284M probably benign Het
Kif17 T G 4: 138,021,059 (GRCm39) S606A probably damaging Het
Lifr C A 15: 7,205,089 (GRCm39) T442K possibly damaging Het
Lypd4 A G 7: 24,564,757 (GRCm39) L127P probably damaging Het
Lyst A G 13: 13,862,279 (GRCm39) H2605R probably benign Het
Map3k4 A G 17: 12,457,076 (GRCm39) S1289P probably damaging Het
Mgam T A 6: 40,742,190 (GRCm39) probably null Het
Mob1b G A 5: 88,903,943 (GRCm39) probably benign Het
Mrgpra1 A G 7: 46,985,218 (GRCm39) S154P probably damaging Het
Ms4a4c C A 19: 11,396,344 (GRCm39) probably benign Het
Mthfd2l A T 5: 91,109,242 (GRCm39) H224L probably damaging Het
Myh8 T C 11: 67,190,847 (GRCm39) Y1350H probably benign Het
Nectin2 T C 7: 19,464,669 (GRCm39) probably benign Het
Nos1 A C 5: 118,031,967 (GRCm39) N305T probably damaging Het
Ogfrl1 T A 1: 23,409,206 (GRCm39) Q340L possibly damaging Het
Or2aj5 T C 16: 19,425,190 (GRCm39) N76S probably benign Het
Or4f62 A T 2: 111,987,171 (GRCm39) N292Y possibly damaging Het
Or6k14 T G 1: 173,927,773 (GRCm39) F250V probably damaging Het
Or9i1 C A 19: 13,839,187 (GRCm39) T10K probably damaging Het
Orc1 T C 4: 108,452,843 (GRCm39) probably null Het
Plekhg5 C A 4: 152,189,207 (GRCm39) D249E probably benign Het
Plet1 A G 9: 50,410,430 (GRCm39) I74V probably benign Het
Psmd2 T A 16: 20,480,434 (GRCm39) D718E probably damaging Het
Rab33b G T 3: 51,391,737 (GRCm39) probably benign Het
Rae1 T A 2: 172,844,466 (GRCm39) F4I unknown Het
Ralgapa2 A G 2: 146,254,672 (GRCm39) Y821H probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Sharpin G T 15: 76,232,543 (GRCm39) P156T possibly damaging Het
Slc38a4 C T 15: 96,897,510 (GRCm39) R435H probably damaging Het
Snrnp200 T C 2: 127,070,469 (GRCm39) V1061A probably benign Het
Suclg1 A G 6: 73,247,980 (GRCm39) T234A possibly damaging Het
Swsap1 T C 9: 21,868,318 (GRCm39) C197R probably benign Het
Tbx15 A G 3: 99,259,412 (GRCm39) T428A probably benign Het
Tet2 T C 3: 133,182,319 (GRCm39) Y1215C probably damaging Het
Tjp1 A G 7: 64,979,523 (GRCm39) probably benign Het
Tmem209 G T 6: 30,502,112 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,589,176 (GRCm39) E58G probably damaging Het
Trp53bp2 T A 1: 182,272,283 (GRCm39) M464K probably damaging Het
Ttc32 A G 12: 9,085,897 (GRCm39) Y148C possibly damaging Het
Unc80 T C 1: 66,546,550 (GRCm39) S541P probably damaging Het
Ushbp1 T C 8: 71,847,684 (GRCm39) probably benign Het
Vmn2r100 A G 17: 19,725,136 (GRCm39) M22V probably benign Het
Vmn2r100 A T 17: 19,746,296 (GRCm39) E485V probably damaging Het
Wdr24 G A 17: 26,046,087 (GRCm39) V471I probably benign Het
Zfp35 T A 18: 24,136,001 (GRCm39) M115K probably benign Het
Zfp429 G A 13: 67,538,796 (GRCm39) S216L probably benign Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A 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
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
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'- GCCCAGGAATGCTTCAGTCCTAAG -3'
(R):5'- AGTGAGTGTCTTTACCGTCCCTGC -3'

Sequencing Primer
(F):5'- GAAACTGACCCTGGTATCTGC -3'
(R):5'- GGTTGAGTAACACCTCTCTAACTG -3'
Posted On 2013-05-09