Incidental Mutation 'R4851:Atad2b'
ID 373566
Institutional Source Beutler Lab
Gene Symbol Atad2b
Ensembl Gene ENSMUSG00000052812
Gene Name ATPase family, AAA domain containing 2B
Synonyms 1110014E10Rik, D530031C13Rik
MMRRC Submission 042463-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4851 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4967353-5097394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4993251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 257 (G257S)
Ref Sequence ENSEMBL: ENSMUSP00000047445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045664]
AlphaFold E9Q166
Predicted Effect probably benign
Transcript: ENSMUST00000045664
AA Change: G257S

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: G257S

DomainStartEndE-ValueType
low complexity region 13 54 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
low complexity region 252 278 N/A INTRINSIC
AAA 432 573 4.56e-20 SMART
SCOP:d1e32a2 771 912 3e-4 SMART
BROMO 958 1070 4.24e-20 SMART
low complexity region 1135 1144 N/A INTRINSIC
low complexity region 1230 1253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219187
Meta Mutation Damage Score 0.0695 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (99/99)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit reduced body size and fertility in female mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,433,890 (GRCm39) R4148S probably benign Het
Acoxl T A 2: 127,886,311 (GRCm39) L182Q possibly damaging Het
Aldh7a1 T C 18: 56,665,088 (GRCm39) T364A possibly damaging Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Arid1a A G 4: 133,408,672 (GRCm39) I1945T unknown Het
Arsk C T 13: 76,213,398 (GRCm39) probably null Het
Best1 C A 19: 9,969,062 (GRCm39) R218L probably damaging Het
Cacna1e A T 1: 154,312,300 (GRCm39) probably null Het
Cdh13 C T 8: 119,484,129 (GRCm39) T130I possibly damaging Het
Cela2a T C 4: 141,552,902 (GRCm39) E25G probably benign Het
Cgnl1 T A 9: 71,632,314 (GRCm39) I346F probably damaging Het
Chil6 C T 3: 106,297,244 (GRCm39) G299D possibly damaging Het
Cic G A 7: 24,972,327 (GRCm39) R686H probably damaging Het
Cnpy1 T C 5: 28,450,738 (GRCm39) I23V probably benign Het
Col6a3 T A 1: 90,707,011 (GRCm39) Y2034F unknown Het
Coq10b T C 1: 55,110,903 (GRCm39) Y224H probably benign Het
Cryge G T 1: 65,090,211 (GRCm39) probably benign Het
Cyb5rl T G 4: 106,941,510 (GRCm39) S252A probably benign Het
Cyp2ab1 T A 16: 20,133,814 (GRCm39) R125S probably damaging Het
Dclk1 G A 3: 55,387,811 (GRCm39) G86R probably damaging Het
Dmtn A G 14: 70,842,254 (GRCm39) M382T probably damaging Het
Dnaaf8 A G 16: 4,794,138 (GRCm39) noncoding transcript Het
Dnah12 T A 14: 26,437,784 (GRCm39) L471* probably null Het
Dock10 A T 1: 80,526,874 (GRCm39) S782T probably benign Het
Egfem1 C A 3: 29,206,032 (GRCm39) H90N possibly damaging Het
Ephb6 T A 6: 41,595,079 (GRCm39) W698R probably benign Het
Exoc4 T A 6: 33,895,343 (GRCm39) C787S probably damaging Het
Exosc8 A T 3: 54,639,523 (GRCm39) probably benign Het
Galc T A 12: 98,193,533 (GRCm39) Q352L probably benign Het
Galns A G 8: 123,327,272 (GRCm39) Y167H probably damaging Het
Glb1l T C 1: 75,185,528 (GRCm39) probably benign Het
Gm6185 A T 1: 161,033,750 (GRCm39) noncoding transcript Het
Gm7694 T C 1: 170,128,794 (GRCm39) N245S probably benign Het
Gmcl1 T G 6: 86,681,538 (GRCm39) K385N possibly damaging Het
Gramd1c A T 16: 43,810,200 (GRCm39) W463R probably damaging Het
Gtpbp8 C G 16: 44,566,433 (GRCm39) A90P probably benign Het
H2bc11 G T 13: 22,227,421 (GRCm39) probably benign Het
Hcar1 T C 5: 124,016,731 (GRCm39) E320G probably benign Het
Hhatl T C 9: 121,618,077 (GRCm39) D226G probably damaging Het
Hoxc5 T A 15: 102,923,801 (GRCm39) I199N probably damaging Het
Iars2 T C 1: 185,059,845 (GRCm39) D121G probably damaging Het
Il5ra T A 6: 106,715,432 (GRCm39) H134L probably benign Het
Isl2 T A 9: 55,452,271 (GRCm39) I281N possibly damaging Het
Kcnk13 T C 12: 99,932,383 (GRCm39) F60L probably damaging Het
Kdelr3 C T 15: 79,409,066 (GRCm39) T85M possibly damaging Het
Kdf1 A T 4: 133,255,676 (GRCm39) H131L probably damaging Het
Mipol1 T A 12: 57,379,087 (GRCm39) L182I probably damaging Het
Morc1 T G 16: 48,381,980 (GRCm39) S513R probably benign Het
Moxd2 A T 6: 40,855,756 (GRCm39) L611H probably damaging Het
Mpped2 T C 2: 106,529,724 (GRCm39) probably benign Het
Mrpl51 T C 6: 125,170,270 (GRCm39) V92A probably benign Het
Mrps26 G A 2: 130,405,681 (GRCm39) probably benign Het
Mrps5 A G 2: 127,432,665 (GRCm39) T29A probably benign Het
Mustn1 A G 14: 30,601,517 (GRCm39) probably benign Het
Ncor2 G A 5: 125,110,431 (GRCm39) P858S possibly damaging Het
Nfasc A G 1: 132,529,759 (GRCm39) F807S probably damaging Het
Nup50 G A 15: 84,823,912 (GRCm39) V422I probably benign Het
Or10x1 T A 1: 174,196,562 (GRCm39) F26L probably benign Het
Or13a25 A T 7: 140,247,226 (GRCm39) M2L probably benign Het
Or1e25 A T 11: 73,493,883 (GRCm39) H159L probably damaging Het
Or2ag13 A T 7: 106,473,221 (GRCm39) V77D probably damaging Het
Or3a1d C A 11: 74,237,769 (GRCm39) V214L probably benign Het
Or4c107 A G 2: 88,788,930 (GRCm39) N40S probably damaging Het
Or8b44 T A 9: 38,410,319 (GRCm39) M118K probably damaging Het
Or8u9 T A 2: 86,002,015 (GRCm39) I49F probably damaging Het
Osbpl8 T A 10: 111,040,661 (GRCm39) M1K probably null Het
Pcdhb22 A C 18: 37,652,087 (GRCm39) D185A possibly damaging Het
Pcdhga8 G T 18: 37,949,457 (GRCm39) R291L probably damaging Het
Saysd1 A T 14: 20,127,672 (GRCm39) L84Q possibly damaging Het
Slc41a1 T C 1: 131,758,508 (GRCm39) I50T probably benign Het
Smg7 G A 1: 152,720,020 (GRCm39) P834S probably benign Het
Speer4a1 C T 5: 26,243,210 (GRCm39) V92M probably damaging Het
Srf T C 17: 46,860,400 (GRCm39) T461A probably benign Het
Ssu72 A G 4: 155,800,053 (GRCm39) D72G possibly damaging Het
Suco T C 1: 161,661,761 (GRCm39) E890G probably damaging Het
Tenm3 A G 8: 48,763,656 (GRCm39) probably null Het
Tm6sf1 A G 7: 81,515,091 (GRCm39) E7G probably null Het
Tm9sf2 A G 14: 122,378,616 (GRCm39) K240R probably benign Het
Tmem52 T A 4: 155,554,825 (GRCm39) Y149* probably null Het
Tpgs2 A T 18: 25,284,305 (GRCm39) Y68N possibly damaging Het
Vmn1r205 T A 13: 22,777,074 (GRCm39) E9D probably benign Het
Vmn2r32 A G 7: 7,482,953 (GRCm39) V7A possibly damaging Het
Vmn2r80 T C 10: 79,030,156 (GRCm39) Y661H possibly damaging Het
Vps39 G A 2: 120,152,312 (GRCm39) probably benign Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp641 T A 15: 98,186,598 (GRCm39) S342C probably damaging Het
Zfp961 T C 8: 72,722,847 (GRCm39) probably benign Het
Other mutations in Atad2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Atad2b APN 12 5,074,593 (GRCm39) missense probably damaging 1.00
IGL00917:Atad2b APN 12 5,015,837 (GRCm39) unclassified probably benign
IGL01011:Atad2b APN 12 5,015,984 (GRCm39) missense probably benign 0.01
IGL01092:Atad2b APN 12 5,067,987 (GRCm39) missense probably damaging 0.98
IGL01604:Atad2b APN 12 5,015,837 (GRCm39) unclassified probably benign
IGL01924:Atad2b APN 12 5,084,093 (GRCm39) missense probably damaging 1.00
IGL02197:Atad2b APN 12 5,068,056 (GRCm39) missense possibly damaging 0.84
IGL02397:Atad2b APN 12 5,024,046 (GRCm39) missense probably damaging 1.00
IGL02404:Atad2b APN 12 4,991,972 (GRCm39) missense probably benign 0.08
IGL02517:Atad2b APN 12 5,068,037 (GRCm39) missense probably benign 0.07
IGL02726:Atad2b APN 12 5,024,003 (GRCm39) nonsense probably null
IGL02896:Atad2b APN 12 5,008,151 (GRCm39) missense probably damaging 1.00
IGL03227:Atad2b APN 12 5,056,715 (GRCm39) missense probably damaging 1.00
IGL03265:Atad2b APN 12 5,074,628 (GRCm39) missense probably benign 0.24
Plyers UTSW 12 5,023,970 (GRCm39) missense probably damaging 1.00
Smidge UTSW 12 5,040,949 (GRCm39) missense probably damaging 1.00
Tensor UTSW 12 5,007,558 (GRCm39) missense probably damaging 1.00
Traction UTSW 12 5,077,182 (GRCm39) critical splice donor site probably null
Vice UTSW 12 5,068,002 (GRCm39) missense probably damaging 1.00
K3955:Atad2b UTSW 12 5,004,536 (GRCm39) splice site probably benign
P0038:Atad2b UTSW 12 5,004,536 (GRCm39) splice site probably benign
PIT4418001:Atad2b UTSW 12 5,074,587 (GRCm39) missense probably benign 0.07
PIT4431001:Atad2b UTSW 12 5,081,795 (GRCm39) missense possibly damaging 0.77
R0006:Atad2b UTSW 12 4,992,030 (GRCm39) missense possibly damaging 0.81
R0006:Atad2b UTSW 12 4,992,030 (GRCm39) missense possibly damaging 0.81
R0124:Atad2b UTSW 12 5,002,676 (GRCm39) missense probably benign 0.23
R0462:Atad2b UTSW 12 4,991,973 (GRCm39) missense possibly damaging 0.79
R0483:Atad2b UTSW 12 4,995,035 (GRCm39) splice site probably benign
R0617:Atad2b UTSW 12 4,987,401 (GRCm39) missense probably benign 0.43
R0894:Atad2b UTSW 12 5,015,915 (GRCm39) missense probably damaging 1.00
R0942:Atad2b UTSW 12 5,074,591 (GRCm39) missense probably damaging 1.00
R0960:Atad2b UTSW 12 5,056,593 (GRCm39) splice site probably benign
R0973:Atad2b UTSW 12 5,081,784 (GRCm39) missense probably benign 0.00
R1306:Atad2b UTSW 12 5,024,239 (GRCm39) missense probably benign 0.08
R1530:Atad2b UTSW 12 4,992,018 (GRCm39) nonsense probably null
R1678:Atad2b UTSW 12 5,015,899 (GRCm39) missense possibly damaging 0.91
R1689:Atad2b UTSW 12 5,084,575 (GRCm39) nonsense probably null
R1826:Atad2b UTSW 12 5,024,094 (GRCm39) missense probably benign 0.00
R1996:Atad2b UTSW 12 5,040,883 (GRCm39) missense probably benign 0.01
R2233:Atad2b UTSW 12 5,056,745 (GRCm39) missense probably damaging 1.00
R2235:Atad2b UTSW 12 5,056,745 (GRCm39) missense probably damaging 1.00
R2943:Atad2b UTSW 12 4,992,067 (GRCm39) missense probably damaging 0.98
R3161:Atad2b UTSW 12 4,989,689 (GRCm39) missense possibly damaging 0.87
R3162:Atad2b UTSW 12 4,989,689 (GRCm39) missense possibly damaging 0.87
R3162:Atad2b UTSW 12 4,989,689 (GRCm39) missense possibly damaging 0.87
R3508:Atad2b UTSW 12 5,000,595 (GRCm39) critical splice donor site probably null
R4239:Atad2b UTSW 12 5,035,710 (GRCm39) missense probably benign 0.05
R4401:Atad2b UTSW 12 4,990,145 (GRCm39) missense probably damaging 0.99
R4558:Atad2b UTSW 12 4,993,223 (GRCm39) missense probably benign 0.10
R4559:Atad2b UTSW 12 4,993,223 (GRCm39) missense probably benign 0.10
R4573:Atad2b UTSW 12 5,004,663 (GRCm39) splice site probably null
R4639:Atad2b UTSW 12 5,068,053 (GRCm39) missense probably damaging 1.00
R4847:Atad2b UTSW 12 4,994,901 (GRCm39) splice site probably null
R4850:Atad2b UTSW 12 4,993,251 (GRCm39) missense probably benign 0.15
R4979:Atad2b UTSW 12 5,084,513 (GRCm39) missense probably damaging 1.00
R5024:Atad2b UTSW 12 4,987,534 (GRCm39) missense probably benign 0.45
R5305:Atad2b UTSW 12 5,015,855 (GRCm39) missense probably damaging 1.00
R5405:Atad2b UTSW 12 4,990,098 (GRCm39) missense possibly damaging 0.87
R5627:Atad2b UTSW 12 4,967,911 (GRCm39) missense probably benign 0.01
R5754:Atad2b UTSW 12 5,060,351 (GRCm39) missense probably benign 0.01
R6163:Atad2b UTSW 12 5,004,593 (GRCm39) missense probably benign 0.00
R6371:Atad2b UTSW 12 5,023,970 (GRCm39) missense probably damaging 1.00
R6374:Atad2b UTSW 12 5,068,002 (GRCm39) missense probably damaging 1.00
R6399:Atad2b UTSW 12 5,007,558 (GRCm39) missense probably damaging 1.00
R6433:Atad2b UTSW 12 5,002,642 (GRCm39) missense possibly damaging 0.89
R6546:Atad2b UTSW 12 5,040,949 (GRCm39) missense probably damaging 1.00
R6617:Atad2b UTSW 12 5,074,668 (GRCm39) missense probably benign 0.00
R7199:Atad2b UTSW 12 5,067,992 (GRCm39) missense probably damaging 1.00
R7267:Atad2b UTSW 12 5,077,105 (GRCm39) nonsense probably null
R7405:Atad2b UTSW 12 4,993,232 (GRCm39) missense probably benign 0.08
R7460:Atad2b UTSW 12 5,002,660 (GRCm39) missense probably benign 0.28
R7568:Atad2b UTSW 12 5,060,390 (GRCm39) critical splice donor site probably null
R7593:Atad2b UTSW 12 5,081,726 (GRCm39) missense probably benign 0.16
R7648:Atad2b UTSW 12 5,077,182 (GRCm39) critical splice donor site probably null
R8253:Atad2b UTSW 12 5,024,160 (GRCm39) missense probably benign 0.02
R8253:Atad2b UTSW 12 5,024,159 (GRCm39) missense possibly damaging 0.54
R8708:Atad2b UTSW 12 5,011,253 (GRCm39) missense probably damaging 1.00
R8894:Atad2b UTSW 12 5,064,001 (GRCm39) critical splice donor site probably null
R8948:Atad2b UTSW 12 5,041,012 (GRCm39) missense possibly damaging 0.87
R8976:Atad2b UTSW 12 4,967,923 (GRCm39) critical splice donor site probably null
R9052:Atad2b UTSW 12 5,015,982 (GRCm39) missense probably damaging 1.00
R9057:Atad2b UTSW 12 5,068,102 (GRCm39) nonsense probably null
R9134:Atad2b UTSW 12 5,060,351 (GRCm39) missense probably benign 0.01
R9450:Atad2b UTSW 12 5,063,859 (GRCm39) missense probably benign 0.06
R9453:Atad2b UTSW 12 5,081,578 (GRCm39) missense probably benign 0.13
R9494:Atad2b UTSW 12 5,081,852 (GRCm39) missense probably benign 0.26
R9634:Atad2b UTSW 12 5,060,332 (GRCm39) missense probably damaging 1.00
R9764:Atad2b UTSW 12 5,082,064 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTGTGACTTGCAAGTAGATGTATG -3'
(R):5'- TTTTGCCACCTGAAGGAACTG -3'

Sequencing Primer
(F):5'- TGAGCAAGCATGTTTGATTTATTGAC -3'
(R):5'- GCCACCTGAAGGAACTGAAACTTC -3'
Posted On 2016-03-01