Incidental Mutation 'R0581:Atad2'
ID 56442
Institutional Source Beutler Lab
Gene Symbol Atad2
Ensembl Gene ENSMUSG00000022360
Gene Name ATPase family, AAA domain containing 2
Synonyms 2610509G12Rik
MMRRC Submission 038771-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R0581 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57957440-57998478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57990060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 139 (T139A)
Ref Sequence ENSEMBL: ENSMUSP00000043691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038194]
AlphaFold Q8CDM1
Predicted Effect probably benign
Transcript: ENSMUST00000038194
AA Change: T139A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: T139A

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 184 199 N/A INTRINSIC
low complexity region 237 268 N/A INTRINSIC
low complexity region 337 349 N/A INTRINSIC
AAA 438 579 9.93e-21 SMART
low complexity region 622 633 N/A INTRINSIC
SCOP:d1e32a2 751 912 5e-4 SMART
low complexity region 924 947 N/A INTRINSIC
BROMO 955 1067 1.2e-19 SMART
low complexity region 1213 1235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227171
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 95% (42/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,100,620 (GRCm39) T2761A probably benign Het
Apold1 G A 6: 134,960,776 (GRCm39) V77I probably benign Het
Cacna1a A T 8: 85,328,565 (GRCm39) I1668F possibly damaging Het
Ccer2 T A 7: 28,456,451 (GRCm39) probably benign Het
Cyp2c54 T A 19: 40,035,999 (GRCm39) T304S probably benign Het
Dpp4 T A 2: 62,187,020 (GRCm39) M497L probably benign Het
Evpl T A 11: 116,120,316 (GRCm39) I541L probably benign Het
Ggn A G 7: 28,871,729 (GRCm39) T370A probably benign Het
Ghr A G 15: 3,418,116 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gpr68 G C 12: 100,844,815 (GRCm39) P243R probably damaging Het
Gtf3c2 G T 5: 31,316,862 (GRCm39) Y720* probably null Het
Il2rb T A 15: 78,366,136 (GRCm39) Y387F possibly damaging Het
Kcnu1 T A 8: 26,427,529 (GRCm39) V282E probably damaging Het
Krt222 G A 11: 99,127,018 (GRCm39) Q201* probably null Het
Lats1 A G 10: 7,578,705 (GRCm39) T610A possibly damaging Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Myh7 T C 14: 55,222,953 (GRCm39) I751V probably benign Het
Mypn A G 10: 62,998,023 (GRCm39) I429T probably benign Het
Nemf A T 12: 69,369,045 (GRCm39) D723E probably benign Het
Nlrp4b T C 7: 10,448,457 (GRCm39) L220P probably damaging Het
Npr3 T A 15: 11,851,536 (GRCm39) D418V probably damaging Het
Nsd3 A G 8: 26,200,718 (GRCm39) N1270S probably damaging Het
Or1j15 T C 2: 36,458,834 (GRCm39) S75P probably damaging Het
Or2g1 A G 17: 38,106,993 (GRCm39) I219M probably damaging Het
Otogl G A 10: 107,624,901 (GRCm39) T1579I possibly damaging Het
Pkp2 T A 16: 16,087,647 (GRCm39) probably benign Het
Psd3 T C 8: 68,173,598 (GRCm39) Y301C probably damaging Het
Psmb4 T C 3: 94,793,479 (GRCm39) H134R probably damaging Het
Ralgapb A G 2: 158,334,881 (GRCm39) T1043A probably benign Het
Sec14l5 T A 16: 4,996,349 (GRCm39) probably null Het
Serpina12 T A 12: 103,997,399 (GRCm39) Q374L probably damaging Het
Serpinb10 C T 1: 107,474,692 (GRCm39) R362* probably null Het
Sorcs1 T A 19: 50,241,139 (GRCm39) I416F possibly damaging Het
Sparcl1 T C 5: 104,241,178 (GRCm39) D82G probably damaging Het
Stat6 A T 10: 127,483,985 (GRCm39) Q89L probably damaging Het
Tat A G 8: 110,718,270 (GRCm39) T52A possibly damaging Het
Yipf7 T A 5: 69,678,406 (GRCm39) I128F probably benign Het
Zfp112 T A 7: 23,825,288 (GRCm39) C419S probably damaging Het
Zzef1 A G 11: 72,742,726 (GRCm39) I769V probably benign Het
Other mutations in Atad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Atad2 APN 15 57,980,216 (GRCm39) missense probably damaging 1.00
IGL00556:Atad2 APN 15 57,963,476 (GRCm39) missense probably damaging 1.00
IGL00674:Atad2 APN 15 57,971,782 (GRCm39) missense possibly damaging 0.49
IGL01407:Atad2 APN 15 57,967,921 (GRCm39) missense probably benign
IGL02557:Atad2 APN 15 57,985,993 (GRCm39) missense probably benign 0.04
IGL03060:Atad2 APN 15 57,985,842 (GRCm39) unclassified probably benign
IGL03308:Atad2 APN 15 57,965,919 (GRCm39) missense probably benign 0.00
R0113:Atad2 UTSW 15 57,984,330 (GRCm39) unclassified probably benign
R0195:Atad2 UTSW 15 57,963,350 (GRCm39) splice site probably benign
R0310:Atad2 UTSW 15 57,977,653 (GRCm39) missense probably damaging 1.00
R0499:Atad2 UTSW 15 57,984,345 (GRCm39) missense probably benign
R0499:Atad2 UTSW 15 57,966,636 (GRCm39) missense possibly damaging 0.92
R0564:Atad2 UTSW 15 57,989,229 (GRCm39) splice site probably benign
R0578:Atad2 UTSW 15 57,968,964 (GRCm39) missense probably damaging 1.00
R0667:Atad2 UTSW 15 57,962,115 (GRCm39) missense probably benign 0.01
R0697:Atad2 UTSW 15 57,968,939 (GRCm39) missense possibly damaging 0.91
R1219:Atad2 UTSW 15 57,998,307 (GRCm39) missense probably benign 0.00
R1271:Atad2 UTSW 15 57,989,985 (GRCm39) missense probably benign 0.00
R1544:Atad2 UTSW 15 57,966,760 (GRCm39) missense probably damaging 1.00
R1624:Atad2 UTSW 15 57,963,415 (GRCm39) missense probably damaging 1.00
R1853:Atad2 UTSW 15 57,960,685 (GRCm39) missense possibly damaging 0.56
R1854:Atad2 UTSW 15 57,960,685 (GRCm39) missense possibly damaging 0.56
R1855:Atad2 UTSW 15 57,960,685 (GRCm39) missense possibly damaging 0.56
R1860:Atad2 UTSW 15 57,960,114 (GRCm39) splice site probably null
R1861:Atad2 UTSW 15 57,960,114 (GRCm39) splice site probably null
R1876:Atad2 UTSW 15 57,970,264 (GRCm39) missense probably benign 0.00
R1938:Atad2 UTSW 15 57,960,101 (GRCm39) missense possibly damaging 0.76
R2158:Atad2 UTSW 15 57,961,962 (GRCm39) missense possibly damaging 0.95
R3756:Atad2 UTSW 15 57,963,119 (GRCm39) missense probably benign 0.01
R4256:Atad2 UTSW 15 57,980,252 (GRCm39) missense probably damaging 1.00
R4762:Atad2 UTSW 15 57,971,758 (GRCm39) missense probably benign
R4827:Atad2 UTSW 15 57,971,744 (GRCm39) missense probably benign 0.07
R4838:Atad2 UTSW 15 57,966,679 (GRCm39) missense probably damaging 1.00
R5238:Atad2 UTSW 15 57,971,733 (GRCm39) missense possibly damaging 0.90
R5247:Atad2 UTSW 15 57,967,874 (GRCm39) nonsense probably null
R5685:Atad2 UTSW 15 57,980,194 (GRCm39) missense possibly damaging 0.95
R5790:Atad2 UTSW 15 57,989,990 (GRCm39) missense probably damaging 1.00
R5813:Atad2 UTSW 15 57,963,250 (GRCm39) missense probably benign 0.42
R5886:Atad2 UTSW 15 57,961,910 (GRCm39) nonsense probably null
R5955:Atad2 UTSW 15 57,969,055 (GRCm39) missense probably benign 0.06
R6034:Atad2 UTSW 15 57,971,959 (GRCm39) missense probably damaging 1.00
R6034:Atad2 UTSW 15 57,971,959 (GRCm39) missense probably damaging 1.00
R6111:Atad2 UTSW 15 57,971,487 (GRCm39) missense probably benign 0.07
R6209:Atad2 UTSW 15 57,981,811 (GRCm39) missense probably damaging 1.00
R6587:Atad2 UTSW 15 57,984,444 (GRCm39) missense probably benign 0.03
R6856:Atad2 UTSW 15 57,970,209 (GRCm39) missense probably damaging 1.00
R7106:Atad2 UTSW 15 57,980,162 (GRCm39) critical splice donor site probably null
R7178:Atad2 UTSW 15 57,980,689 (GRCm39) missense probably damaging 1.00
R7290:Atad2 UTSW 15 57,962,047 (GRCm39) missense probably benign 0.00
R7421:Atad2 UTSW 15 57,998,322 (GRCm39) missense probably benign 0.40
R7583:Atad2 UTSW 15 57,990,060 (GRCm39) missense probably benign
R7861:Atad2 UTSW 15 57,989,176 (GRCm39) missense probably benign 0.10
R7886:Atad2 UTSW 15 57,989,532 (GRCm39) missense probably damaging 1.00
R8072:Atad2 UTSW 15 57,963,374 (GRCm39) missense possibly damaging 0.96
R8126:Atad2 UTSW 15 57,968,987 (GRCm39) missense probably benign 0.02
R8845:Atad2 UTSW 15 57,989,532 (GRCm39) missense probably damaging 1.00
R9027:Atad2 UTSW 15 57,995,628 (GRCm39) missense probably benign 0.04
R9079:Atad2 UTSW 15 57,989,223 (GRCm39) missense probably benign 0.35
R9161:Atad2 UTSW 15 57,989,185 (GRCm39) missense possibly damaging 0.64
R9209:Atad2 UTSW 15 57,980,194 (GRCm39) missense possibly damaging 0.95
R9266:Atad2 UTSW 15 57,985,967 (GRCm39) missense probably benign 0.00
R9306:Atad2 UTSW 15 57,959,994 (GRCm39) nonsense probably null
R9546:Atad2 UTSW 15 57,989,973 (GRCm39) missense probably damaging 1.00
R9547:Atad2 UTSW 15 57,989,973 (GRCm39) missense probably damaging 1.00
R9614:Atad2 UTSW 15 57,970,119 (GRCm39) critical splice donor site probably null
R9655:Atad2 UTSW 15 57,998,303 (GRCm39) missense probably damaging 1.00
R9663:Atad2 UTSW 15 57,971,540 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GTAGTGCCCACAGCACAATCCTT -3'
(R):5'- ATTGCAGGCATTCCACAGCACC -3'

Sequencing Primer
(F):5'- TCACCCACAAAATTTGTTCTGG -3'
(R):5'- GATGTTCTGTTGCACATTTTCAAG -3'
Posted On 2013-07-11