Incidental Mutation 'R5886:Atad2'
ID 456120
Institutional Source Beutler Lab
Gene Symbol Atad2
Ensembl Gene ENSMUSG00000022360
Gene Name ATPase family, AAA domain containing 2
Synonyms 2610509G12Rik
MMRRC Submission 044088-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R5886 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57957440-57998478 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 57961910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 887 (L887*)
Ref Sequence ENSEMBL: ENSMUSP00000153936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038194] [ENSMUST00000228783]
AlphaFold Q8CDM1
Predicted Effect probably null
Transcript: ENSMUST00000038194
AA Change: L1211*
SMART Domains Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: L1211*

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: ENSMUST00000226526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226649
Predicted Effect probably null
Transcript: ENSMUST00000228783
AA Change: L887*
Meta Mutation Damage Score 0.9706 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency 96% (78/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Adam26b T C 8: 43,973,310 (GRCm39) E564G possibly damaging Het
Akap1 A G 11: 88,725,486 (GRCm39) probably null Het
Akap5 T A 12: 76,374,619 (GRCm39) V10E possibly damaging Het
Brd10 T C 19: 29,696,677 (GRCm39) I939V probably benign Het
C1qbp A G 11: 70,873,008 (GRCm39) V122A probably benign Het
C1qtnf7 G A 5: 43,772,998 (GRCm39) G92D probably damaging Het
Cacna1a T C 8: 85,249,651 (GRCm39) I219T probably damaging Het
Capn12 A G 7: 28,587,030 (GRCm39) N333S probably benign Het
Ccdc154 C T 17: 25,390,792 (GRCm39) T644I probably benign Het
Cd200r1 T C 16: 44,610,566 (GRCm39) S225P possibly damaging Het
Cntnap5a T C 1: 116,499,402 (GRCm39) probably null Het
Coq4 A T 2: 29,680,626 (GRCm39) probably benign Het
Cubn A T 2: 13,324,834 (GRCm39) probably benign Het
Cyp4f17 A T 17: 32,743,013 (GRCm39) S229C possibly damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
D930007J09Rik C A 13: 32,986,819 (GRCm39) A200E probably benign Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Duoxa1 A T 2: 122,134,291 (GRCm39) S276T possibly damaging Het
Efcab15 A G 11: 103,098,947 (GRCm39) probably null Het
Efhb T C 17: 53,758,582 (GRCm39) I351M probably benign Het
Fat1 G A 8: 45,480,718 (GRCm39) probably null Het
Fat1 A T 8: 45,486,432 (GRCm39) T3329S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gm973 T A 1: 59,597,409 (GRCm39) probably benign Het
Gpr156 T A 16: 37,799,375 (GRCm39) L124Q probably damaging Het
Hars2 T A 18: 36,923,150 (GRCm39) probably benign Het
Hcrt G A 11: 100,652,759 (GRCm39) A85V probably damaging Het
Hivep1 A G 13: 42,310,088 (GRCm39) D776G probably damaging Het
Hmgcr A T 13: 96,796,691 (GRCm39) S200T probably damaging Het
Krt40 C T 11: 99,430,907 (GRCm39) A201T probably benign Het
Lca5 G A 9: 83,281,734 (GRCm39) A350V probably benign Het
Lrig2 T A 3: 104,370,014 (GRCm39) M515L probably benign Het
Mbd5 A G 2: 49,162,464 (GRCm39) D90G probably damaging Het
Mfsd4a C T 1: 131,995,465 (GRCm39) V56I probably damaging Het
Mpi A G 9: 57,455,745 (GRCm39) probably benign Het
Mroh4 G T 15: 74,478,296 (GRCm39) D935E possibly damaging Het
Mtg1 G T 7: 139,729,778 (GRCm39) probably null Het
Nanos1 T A 19: 60,745,268 (GRCm39) C189S probably damaging Het
Naprt A C 15: 75,763,324 (GRCm39) probably null Het
Nubpl T A 12: 52,228,092 (GRCm39) probably null Het
Or10ad1b T C 15: 98,124,672 (GRCm39) T285A possibly damaging Het
Or10d4 G T 9: 39,581,252 (GRCm39) V300L probably benign Het
Or8g23 T A 9: 38,971,678 (GRCm39) T95S probably benign Het
Or9g20 A G 2: 85,630,147 (GRCm39) S156P probably damaging Het
Otud4 T A 8: 80,399,436 (GRCm39) Y717N probably damaging Het
Pakap T A 4: 57,856,295 (GRCm39) D582E probably damaging Het
Pnpla1 T C 17: 29,095,837 (GRCm39) F86S possibly damaging Het
Prlhr C T 19: 60,456,014 (GRCm39) W184* probably null Het
Rtp3 A G 9: 110,816,204 (GRCm39) S116P probably damaging Het
Sema3c T C 5: 17,886,984 (GRCm39) I345T possibly damaging Het
Skor2 T C 18: 76,947,124 (GRCm39) L282P unknown Het
Slc24a4 T C 12: 102,226,674 (GRCm39) V468A probably damaging Het
Slfn8 C T 11: 82,894,160 (GRCm39) M826I probably benign Het
Tacc2 A G 7: 130,330,850 (GRCm39) D378G probably benign Het
Thbs3 C A 3: 89,127,470 (GRCm39) D370E probably damaging Het
Tk1 CC GA 11: 117,707,948 (GRCm39) probably benign Het
Tm7sf2 A G 19: 6,116,572 (GRCm39) probably benign Het
Trappc8 T C 18: 21,007,737 (GRCm39) Y126C probably damaging Het
Trim35 C G 14: 66,541,502 (GRCm39) L209V possibly damaging Het
Trim35 T C 14: 66,541,503 (GRCm39) L209P probably damaging Het
Trip12 C T 1: 84,708,179 (GRCm39) probably benign Het
Trp53bp1 A G 2: 121,035,502 (GRCm39) V1583A probably damaging Het
Tuba5-ps A G 1: 134,447,937 (GRCm39) noncoding transcript Het
Tubgcp6 A T 15: 88,987,450 (GRCm39) N1166K possibly damaging Het
Usp54 C T 14: 20,611,910 (GRCm39) D969N probably benign Het
Vldlr C A 19: 27,221,171 (GRCm39) S612R probably benign Het
Vps13a T C 19: 16,641,926 (GRCm39) T2234A probably benign Het
Vps39 A G 2: 120,152,053 (GRCm39) probably benign Het
Zdhhc3 A T 9: 122,920,146 (GRCm39) C120S probably benign Het
Zfp37 A G 4: 62,109,471 (GRCm39) F531S probably damaging 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
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
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'- GGATGCAATCTCCAGGGTATCC -3'
(R):5'- AGTCAAAGTGGCATGTAGGC -3'

Sequencing Primer
(F):5'- AGTTAGCTCTGTAGACCAGGC -3'
(R):5'- GCATGTAGGCACCAAAATAAAGC -3'
Posted On 2017-02-15