Incidental Mutation 'R0113:Atad2'
ID 20607
Institutional Source Beutler Lab
Gene Symbol Atad2
Ensembl Gene ENSMUSG00000022360
Gene Name ATPase family, AAA domain containing 2
Synonyms 2610509G12Rik
MMRRC Submission 038399-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R0113 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57957440-57998478 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 57984330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038194] [ENSMUST00000228783]
AlphaFold Q8CDM1
Predicted Effect probably benign
Transcript: ENSMUST00000038194
SMART Domains Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360

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: ENSMUST00000227134
Predicted Effect probably benign
Transcript: ENSMUST00000228783
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik A G 8: 10,976,126 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,242,114 (GRCm39) I1326F possibly damaging Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Aspscr1 C G 11: 120,579,751 (GRCm39) Q97E probably damaging Het
Atcay A T 10: 81,050,554 (GRCm39) probably null Het
Brme1 C T 8: 84,893,871 (GRCm39) T311I probably damaging Het
C4b T A 17: 34,960,214 (GRCm39) Y279F probably damaging Het
Cav1 A T 6: 17,308,048 (GRCm39) S67C possibly damaging Het
Ceacam23 G A 7: 17,642,873 (GRCm39) noncoding transcript Het
Celf2 A C 2: 6,629,525 (GRCm39) H113Q probably damaging Het
Cep170 A C 1: 176,586,021 (GRCm39) N590K probably damaging Het
Ces1f A T 8: 94,006,327 (GRCm39) M1K probably null Het
Chrna1 C A 2: 73,397,180 (GRCm39) D370Y possibly damaging Het
Csmd1 C A 8: 16,034,849 (GRCm39) G2441C probably damaging Het
D630003M21Rik C T 2: 158,038,495 (GRCm39) D984N possibly damaging Het
Dhrs1 T C 14: 55,977,396 (GRCm39) T241A probably benign Het
Edar A C 10: 58,465,271 (GRCm39) C31G probably damaging Het
Eps8 A G 6: 137,514,682 (GRCm39) S24P possibly damaging Het
Fam149a T C 8: 45,794,061 (GRCm39) E669G probably damaging Het
Fcrla A T 1: 170,749,868 (GRCm39) M1K probably null Het
G3bp1 T A 11: 55,386,252 (GRCm39) V237E probably benign Het
Galnt5 A G 2: 57,888,889 (GRCm39) E163G probably benign Het
Gpr87 T C 3: 59,086,932 (GRCm39) D192G possibly damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Ints1 T C 5: 139,750,968 (GRCm39) T810A Het
Kalrn A G 16: 33,870,306 (GRCm39) probably benign Het
Kcnk6 T C 7: 28,931,634 (GRCm39) D92G probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mfsd6 A T 1: 52,748,348 (GRCm39) N172K probably damaging Het
Mtcl1 G T 17: 66,661,237 (GRCm39) Q1225K possibly damaging Het
Nav2 C T 7: 49,185,701 (GRCm39) T948M probably damaging Het
Nfic T C 10: 81,256,419 (GRCm39) K104E probably damaging Het
Nup58 G A 14: 60,488,740 (GRCm39) probably benign Het
Nwd2 A T 5: 63,965,241 (GRCm39) K1608N probably damaging Het
Or10n1 T A 9: 39,525,298 (GRCm39) I145K probably benign Het
Or1j21 G A 2: 36,684,006 (GRCm39) G253R probably damaging Het
Or1j21 G T 2: 36,684,007 (GRCm39) G253V probably damaging Het
Phf21b T C 15: 84,688,968 (GRCm39) D186G probably damaging Het
Poli C T 18: 70,661,829 (GRCm39) C57Y probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Psg23 T C 7: 18,345,927 (GRCm39) Y256C probably benign Het
Satb1 C A 17: 52,089,726 (GRCm39) E374* probably null Het
Scn4a C T 11: 106,236,262 (GRCm39) E333K probably benign Het
Sec14l2 C T 11: 4,053,661 (GRCm39) probably benign Het
Slain1 T C 14: 103,923,261 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Syne2 T C 12: 75,977,352 (GRCm39) S1266P probably damaging Het
Syne2 A G 12: 76,080,496 (GRCm39) E4810G probably damaging Het
Tbck T C 3: 132,448,841 (GRCm39) I618T probably damaging Het
Tmem132d A T 5: 127,861,657 (GRCm39) N821K probably benign Het
Trim28 T A 7: 12,762,628 (GRCm39) V381E probably damaging Het
Ttc1 T C 11: 43,636,115 (GRCm39) S43G probably benign Het
Ube2u A G 4: 100,338,852 (GRCm39) E39G possibly damaging Het
Urb2 T C 8: 124,757,665 (GRCm39) V1124A probably benign Het
Usp13 A G 3: 32,872,025 (GRCm39) probably benign Het
Vmn1r216 A T 13: 23,283,631 (GRCm39) S105C probably damaging Het
Yipf2 T C 9: 21,501,412 (GRCm39) T23A probably damaging Het
Zfp521 G A 18: 13,978,148 (GRCm39) T755M probably damaging Het
Zfp619 T A 7: 39,187,183 (GRCm39) M1071K probably benign Het
Zfp942 A T 17: 22,148,066 (GRCm39) C188S 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
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
R0581:Atad2 UTSW 15 57,990,060 (GRCm39) missense probably benign
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'- AGTCACTGGTAATGGGAGTTAGAGCAC -3'
(R):5'- CGTTGCTCCAGCCTTCCTGATAGTA -3'

Sequencing Primer
(F):5'- GAGTTAGAGCACTAAATGCATACC -3'
(R):5'- caactgctgaactctctctcc -3'
Posted On 2013-04-11