Incidental Mutation 'R9546:Atad2'
ID 720148
Institutional Source Beutler Lab
Gene Symbol Atad2
Ensembl Gene ENSMUSG00000022360
Gene Name ATPase family, AAA domain containing 2
Synonyms 2610509G12Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R9546 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 57957440-57998478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57989973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 168 (S168P)
Ref Sequence ENSEMBL: ENSMUSP00000043691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038194]
AlphaFold Q8CDM1
Predicted Effect probably damaging
Transcript: ENSMUST00000038194
AA Change: S168P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: S168P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 G A 11: 110,135,042 (GRCm39) Q248* probably null Het
Adgrf4 A T 17: 42,978,283 (GRCm39) C353* probably null Het
Aifm3 T C 16: 17,317,604 (GRCm39) V75A probably benign Het
Apc A G 18: 34,445,311 (GRCm39) K736E possibly damaging Het
Ccdc122 T A 14: 77,306,313 (GRCm39) V28E probably damaging Het
Cd5l T C 3: 87,268,201 (GRCm39) V16A probably benign Het
Cdk11b T C 4: 155,733,589 (GRCm39) S682P unknown Het
Chd8 T C 14: 52,453,408 (GRCm39) I1218V probably damaging Het
Clec1b A C 6: 129,382,167 (GRCm39) I215L probably benign Het
Dnah14 A C 1: 181,420,992 (GRCm39) probably null Het
Ednrb T C 14: 104,080,459 (GRCm39) I152V probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Epn2 T C 11: 61,437,407 (GRCm39) E55G probably damaging Het
Ern1 A G 11: 106,300,853 (GRCm39) S514P probably benign Het
Fbxo4 G A 15: 3,998,493 (GRCm39) P322S probably damaging Het
Gli3 T A 13: 15,788,443 (GRCm39) D149E probably benign Het
Gm12258 A G 11: 58,749,922 (GRCm39) K366E unknown Het
Gm9195 G T 14: 72,718,347 (GRCm39) H110N possibly damaging Het
Grb10 A G 11: 11,893,919 (GRCm39) I389T probably benign Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hexb T C 13: 97,322,176 (GRCm39) D203G probably damaging Het
Hhatl A G 9: 121,618,649 (GRCm39) Y118H probably damaging Het
Ighv1-69 A G 12: 115,586,885 (GRCm39) F83L possibly damaging Het
Iglon5 A T 7: 43,123,891 (GRCm39) M336K probably benign Het
Iyd A T 10: 3,501,884 (GRCm39) I177F possibly damaging Het
Kdm4c A C 4: 74,323,104 (GRCm39) D1012A possibly damaging Het
Klhl12 T A 1: 134,413,562 (GRCm39) L349Q probably damaging Het
Lrp2 A G 2: 69,287,165 (GRCm39) probably null Het
Mrm2 T A 5: 140,314,334 (GRCm39) H167L probably damaging Het
Mrpl50 T A 4: 49,514,338 (GRCm39) H111L probably damaging Het
Mtcl3 C A 10: 29,022,805 (GRCm39) R51S probably damaging Het
Nags A T 11: 102,039,081 (GRCm39) T471S probably damaging Het
Nod2 A T 8: 89,379,621 (GRCm39) R41W probably benign Het
Notch1 T A 2: 26,371,127 (GRCm39) N320Y probably damaging Het
Nr2c1 A G 10: 94,026,528 (GRCm39) K468E possibly damaging Het
Nsf G A 11: 103,801,275 (GRCm39) Q247* probably null Het
Obsl1 T C 1: 75,482,030 (GRCm39) H280R probably damaging Het
Or4p20 T C 2: 88,254,049 (GRCm39) M107V probably benign Het
Pcdha3 C T 18: 37,079,389 (GRCm39) R44C probably damaging Het
Pcsk4 A G 10: 80,157,741 (GRCm39) S623P possibly damaging Het
Pdcd6ip A T 9: 113,484,174 (GRCm39) Y818N unknown Het
Plk2 T A 13: 110,535,301 (GRCm39) I445K possibly damaging Het
Pramel51 C A 12: 88,148,651 (GRCm39) probably benign Het
Prdm2 A T 4: 142,861,561 (GRCm39) S576R probably damaging Het
Prl3d1 A T 13: 27,278,982 (GRCm39) Y59F probably benign Het
Ptprj C T 2: 90,274,805 (GRCm39) V1186I probably benign Het
Raly AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG AGCAGCAGTGGTGGAGG 2: 154,705,754 (GRCm39) probably benign Het
Ros1 C T 10: 51,994,215 (GRCm39) probably null Het
Ryr2 C T 13: 11,602,101 (GRCm39) probably null Het
Scn7a A T 2: 66,582,603 (GRCm39) I98N possibly damaging Het
Spi1 T A 2: 90,943,617 (GRCm39) S54T probably benign Het
Ssna1 C T 2: 25,162,316 (GRCm39) V16I probably benign Het
Sult3a2 G A 10: 33,655,670 (GRCm39) P103L possibly damaging Het
Syne1 C T 10: 5,193,123 (GRCm39) G3975D probably damaging Het
Tbc1d1 T C 5: 64,330,950 (GRCm39) V43A possibly damaging Het
Tut4 A G 4: 108,370,429 (GRCm39) D776G probably benign Het
Uba5 A G 9: 103,931,567 (GRCm39) S222P probably damaging Het
Vmn2r24 A C 6: 123,764,266 (GRCm39) E381A probably damaging Het
Vmn2r95 G A 17: 18,661,721 (GRCm39) G489D probably benign Het
Wdr17 A T 8: 55,112,735 (GRCm39) F789I probably damaging Het
Xpnpep1 A T 19: 52,990,959 (GRCm39) L422Q probably damaging Het
Zfand3 T A 17: 30,372,302 (GRCm39) H107Q 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
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
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'- ATGGGGTCAGGAATTTAGCTCAATTG -3'
(R):5'- GCTATGAAAGTTGATGTTCTGTTGCAC -3'

Sequencing Primer
(F):5'- GGGTGCTAGCACACTTTGATCC -3'
(R):5'- GATGTTCTGTTGCACATTTTCAAG -3'
Posted On 2022-07-18