Incidental Mutation 'R5362:Atl2'
ID 422899
Institutional Source Beutler Lab
Gene Symbol Atl2
Ensembl Gene ENSMUSG00000059811
Gene Name atlastin GTPase 2
Synonyms Arl6ip2, 2010110I21Rik, Aip-2
MMRRC Submission 043264-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5362 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 80155819-80203552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80168890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 37 (N37D)
Ref Sequence ENSEMBL: ENSMUSP00000108056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193]
AlphaFold Q6PA06
Predicted Effect probably damaging
Transcript: ENSMUST00000068282
AA Change: N208D

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: N208D

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
Pfam:GBP 70 341 3.9e-105 PFAM
low complexity region 377 390 N/A INTRINSIC
Blast:HAMP 495 545 4e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000112437
AA Change: N37D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: N37D

DomainStartEndE-ValueType
Pfam:GBP 1 170 6.6e-69 PFAM
Pfam:GBP_C 172 302 2.7e-8 PFAM
Blast:HAMP 324 374 3e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000222193
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A T 6: 133,271,445 (GRCm39) D163V probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankrd17 G A 5: 90,413,404 (GRCm39) A1170V probably damaging Het
Ano1 A C 7: 144,202,337 (GRCm39) probably benign Het
C2cd5 T C 6: 143,028,969 (GRCm39) Y90C probably damaging Het
Carm1 A G 9: 21,498,655 (GRCm39) N499S probably benign Het
Ccdc47 G A 11: 106,099,039 (GRCm39) probably null Het
Cd300lf G T 11: 115,007,940 (GRCm39) L251M probably damaging Het
Cfap74 A G 4: 155,522,623 (GRCm39) S670G probably damaging Het
Clec4a1 A G 6: 122,909,196 (GRCm39) D188G probably damaging Het
Col4a1 T C 8: 11,295,760 (GRCm39) probably benign Het
Csn2 T A 5: 87,842,508 (GRCm39) H165L probably benign Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dlx3 T C 11: 95,011,326 (GRCm39) V60A possibly damaging Het
Elp1 A C 4: 56,778,969 (GRCm39) I616S probably damaging Het
Fam221a A G 6: 49,353,049 (GRCm39) H21R probably damaging Het
Foxj3 T A 4: 119,477,340 (GRCm39) H349Q unknown Het
Gm37240 G A 3: 84,423,000 (GRCm39) T123I probably damaging Het
Gpc1 A T 1: 92,782,615 (GRCm39) T121S probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Itga2b A G 11: 102,351,961 (GRCm39) V512A probably damaging Het
Itgae A G 11: 73,002,675 (GRCm39) Y144C probably damaging Het
Izumo3 A T 4: 92,035,037 (GRCm39) I60K possibly damaging Het
Kif9 G A 9: 110,319,012 (GRCm39) V159M probably damaging Het
Lrp1b T C 2: 41,265,914 (GRCm39) D229G probably damaging Het
Nkpd1 G A 7: 19,257,193 (GRCm39) G324D probably damaging Het
Nrp2 T A 1: 62,808,221 (GRCm39) Y617N probably benign Het
Ocm T C 5: 143,960,674 (GRCm39) D91G probably damaging Het
Or4l15 A G 14: 50,197,986 (GRCm39) L181P possibly damaging Het
Or52ad1 A G 7: 102,995,454 (GRCm39) V227A probably damaging Het
Or52n2b A G 7: 104,565,834 (GRCm39) I223T probably damaging Het
Or6c70 T C 10: 129,710,422 (GRCm39) E68G probably damaging Het
Pex5l G A 3: 33,047,065 (GRCm39) A295V probably damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Pou2f2 G A 7: 24,792,320 (GRCm39) P512S probably benign Het
Prpf8 G A 11: 75,397,236 (GRCm39) R2023Q possibly damaging Het
Ptprd A T 4: 76,047,050 (GRCm39) S399R probably damaging Het
Qrich2 T C 11: 116,337,976 (GRCm39) Y1889C probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Ranbp6 G T 19: 29,789,128 (GRCm39) T408K probably benign Het
Scn7a G A 2: 66,530,342 (GRCm39) R668C probably damaging Het
Sertad4 T C 1: 192,529,414 (GRCm39) N134S probably damaging Het
Spg11 G T 2: 121,891,481 (GRCm39) N1963K probably damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Top2a T C 11: 98,909,738 (GRCm39) N120S probably damaging Het
Trappc9 C T 15: 72,930,066 (GRCm39) E97K possibly damaging Het
Vmn1r91 A T 7: 19,835,386 (GRCm39) T102S probably benign Het
Vmn2r99 G T 17: 19,599,601 (GRCm39) M428I probably benign Het
Zfp62 A T 11: 49,107,439 (GRCm39) H510L probably damaging Het
Other mutations in Atl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Atl2 APN 17 80,167,214 (GRCm39) critical splice donor site probably null
IGL02692:Atl2 APN 17 80,172,482 (GRCm39) missense probably benign
IGL03127:Atl2 APN 17 80,160,283 (GRCm39) missense probably damaging 0.99
IGL03377:Atl2 APN 17 80,172,519 (GRCm39) missense probably damaging 1.00
R0164:Atl2 UTSW 17 80,161,260 (GRCm39) unclassified probably benign
R1203:Atl2 UTSW 17 80,160,334 (GRCm39) missense probably damaging 0.99
R1489:Atl2 UTSW 17 80,160,135 (GRCm39) missense probably benign 0.00
R1663:Atl2 UTSW 17 80,172,140 (GRCm39) missense probably damaging 1.00
R1977:Atl2 UTSW 17 80,160,019 (GRCm39) missense probably damaging 1.00
R2032:Atl2 UTSW 17 80,203,373 (GRCm39) missense probably benign
R4063:Atl2 UTSW 17 80,157,588 (GRCm39) makesense probably null
R5104:Atl2 UTSW 17 80,160,046 (GRCm39) missense probably benign 0.01
R5201:Atl2 UTSW 17 80,172,580 (GRCm39) missense probably benign
R5387:Atl2 UTSW 17 80,160,229 (GRCm39) missense probably benign 0.03
R6128:Atl2 UTSW 17 80,172,470 (GRCm39) critical splice donor site probably null
R6369:Atl2 UTSW 17 80,161,984 (GRCm39) missense probably damaging 0.96
R6416:Atl2 UTSW 17 80,157,652 (GRCm39) missense probably benign 0.00
R6597:Atl2 UTSW 17 80,160,195 (GRCm39) missense possibly damaging 0.68
R6885:Atl2 UTSW 17 80,159,982 (GRCm39) missense probably damaging 1.00
R7428:Atl2 UTSW 17 80,183,227 (GRCm39) splice site probably null
R7587:Atl2 UTSW 17 80,172,496 (GRCm39) missense probably benign 0.25
R7646:Atl2 UTSW 17 80,162,036 (GRCm39) missense probably damaging 1.00
R7781:Atl2 UTSW 17 80,167,260 (GRCm39) missense probably damaging 1.00
R7949:Atl2 UTSW 17 80,167,289 (GRCm39) missense probably damaging 1.00
R8170:Atl2 UTSW 17 80,163,690 (GRCm39) missense possibly damaging 0.95
R8313:Atl2 UTSW 17 80,160,033 (GRCm39) nonsense probably null
R8878:Atl2 UTSW 17 80,160,232 (GRCm39) missense probably benign 0.05
R8899:Atl2 UTSW 17 80,183,469 (GRCm39) missense probably benign 0.01
R9335:Atl2 UTSW 17 80,160,207 (GRCm39) missense probably benign 0.00
X0052:Atl2 UTSW 17 80,160,046 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GGCATTTCACTGGCTAATAAACTAGG -3'
(R):5'- CACTTGGACCATGAGTATGTATGC -3'

Sequencing Primer
(F):5'- ATGTCCTCTAGTTAGCCAA -3'
(R):5'- GGACCATGAGTATGTATGCTTTATG -3'
Posted On 2016-08-04