Incidental Mutation 'R1663:Atl2'
ID 186970
Institutional Source Beutler Lab
Gene Symbol Atl2
Ensembl Gene ENSMUSG00000059811
Gene Name atlastin GTPase 2
Synonyms Arl6ip2, 2010110I21Rik, Aip-2
MMRRC Submission 039699-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1663 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 80155819-80203552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80172140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 28 (S28P)
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: S199P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: S199P

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: S28P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: S28P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,177,949 (GRCm39) T11S probably benign Het
Adgb T C 10: 10,215,419 (GRCm39) M1529V possibly damaging Het
Ankrd36 T A 11: 5,570,126 (GRCm39) D531E possibly damaging Het
Ankzf1 C T 1: 75,172,914 (GRCm39) P337S probably damaging Het
Apc A G 18: 34,401,378 (GRCm39) I55V probably damaging Het
Aplnr A G 2: 84,967,038 (GRCm39) D21G possibly damaging Het
Apol10b A T 15: 77,472,914 (GRCm39) F47I probably damaging Het
Arhgef5 G A 6: 43,253,899 (GRCm39) A1131T probably damaging Het
Arrb2 A T 11: 70,328,429 (GRCm39) Q83L probably damaging Het
Atf7ip A G 6: 136,580,322 (GRCm39) Q1082R possibly damaging Het
Brd7 T C 8: 89,084,651 (GRCm39) K89E possibly damaging Het
Cc2d1b A G 4: 108,480,744 (GRCm39) T55A probably damaging Het
Ccdc18 A G 5: 108,363,956 (GRCm39) E1217G probably damaging Het
Cdc42ep4 A T 11: 113,620,277 (GRCm39) M38K probably damaging Het
Cldn14 A G 16: 93,716,166 (GRCm39) S227P probably damaging Het
Clspn T A 4: 126,459,768 (GRCm39) C332S probably benign Het
Col5a1 T C 2: 27,841,488 (GRCm39) S370P unknown Het
Comp T C 8: 70,826,250 (GRCm39) L10P possibly damaging Het
Dcc A T 18: 71,959,123 (GRCm39) N216K probably damaging Het
Dcstamp C T 15: 39,618,340 (GRCm39) Q250* probably null Het
Drd5 T C 5: 38,478,198 (GRCm39) F397S probably benign Het
Dst T C 1: 34,202,466 (GRCm39) S265P probably damaging Het
Dync2i1 T C 12: 116,193,230 (GRCm39) Q574R probably benign Het
Enam A T 5: 88,651,853 (GRCm39) S1046C probably damaging Het
Eno3 T C 11: 70,553,100 (GRCm39) probably null Het
Fam13a G A 6: 58,931,357 (GRCm39) R408* probably null Het
Gipc2 T A 3: 151,799,801 (GRCm39) M310L probably benign Het
Gm14496 T C 2: 181,639,230 (GRCm39) V440A probably benign Het
Gzmg A T 14: 56,394,265 (GRCm39) C210S probably damaging Het
Helb G T 10: 119,941,338 (GRCm39) A450E probably damaging Het
Hepacam2 A T 6: 3,483,439 (GRCm39) I190N possibly damaging Het
Hk3 A T 13: 55,154,388 (GRCm39) S773T probably benign Het
Hnrnpc A G 14: 52,312,852 (GRCm39) S221P probably damaging Het
Ifna9 T C 4: 88,510,220 (GRCm39) T135A probably benign Het
Igfn1 C T 1: 135,896,046 (GRCm39) G1507R probably benign Het
Kank3 A G 17: 34,037,349 (GRCm39) T218A probably benign Het
Kcp G T 6: 29,498,964 (GRCm39) R337S possibly damaging Het
Krt74 A T 15: 101,665,109 (GRCm39) noncoding transcript Het
Lrp1 A T 10: 127,392,790 (GRCm39) D2758E probably damaging Het
Ly75 T C 2: 60,144,578 (GRCm39) E1295G probably damaging Het
Mccc1 C A 3: 36,033,082 (GRCm39) W354L probably damaging Het
Mmp1a C T 9: 7,465,657 (GRCm39) T198M probably benign Het
Mtmr2 C T 9: 13,714,797 (GRCm39) T519I probably damaging Het
Nbea A G 3: 55,553,407 (GRCm39) S2632P possibly damaging Het
Nbn T A 4: 15,970,903 (GRCm39) D295E probably benign Het
Ndufb8 T C 19: 44,538,820 (GRCm39) Y167C probably damaging Het
Nisch A G 14: 30,913,478 (GRCm39) probably benign Het
Notch3 C T 17: 32,375,093 (GRCm39) G407D probably damaging Het
Nucb1 A G 7: 45,148,288 (GRCm39) F175S probably damaging Het
Or1l8 T G 2: 36,817,346 (GRCm39) Y260S probably damaging Het
Or6c6c G A 10: 129,541,160 (GRCm39) V138M probably benign Het
Or7g12 T A 9: 18,900,006 (GRCm39) C241S probably damaging Het
Or8b44 T G 9: 38,410,868 (GRCm39) I301R unknown Het
Pip5k1c T C 10: 81,148,349 (GRCm39) V425A probably damaging Het
Pnisr T A 4: 21,873,857 (GRCm39) probably benign Het
Prkag1 A G 15: 98,713,776 (GRCm39) V18A probably damaging Het
Rad50 T C 11: 53,559,050 (GRCm39) N1063S probably benign Het
Rnf170 C T 8: 26,619,171 (GRCm39) H132Y probably damaging Het
Rnf213 A G 11: 119,328,498 (GRCm39) D1977G probably benign Het
Sema3a G A 5: 13,607,092 (GRCm39) probably null Het
Setx T A 2: 29,016,917 (GRCm39) C7S probably damaging Het
Slc23a2 A G 2: 131,907,384 (GRCm39) I417T probably damaging Het
Spink6 T G 18: 44,204,588 (GRCm39) F18C unknown Het
Sptbn1 T C 11: 30,070,783 (GRCm39) Q1538R possibly damaging Het
Strn3 A G 12: 51,699,609 (GRCm39) Y188H probably damaging Het
Tecpr1 C A 5: 144,134,762 (GRCm39) K1040N probably benign Het
Tll1 T A 8: 64,470,720 (GRCm39) Y901F probably benign Het
Tmem81 C T 1: 132,435,635 (GRCm39) A147V probably benign Het
Tnpo3 T C 6: 29,565,758 (GRCm39) D532G probably benign Het
Vmn2r19 T A 6: 123,313,411 (GRCm39) I827N probably benign Het
Wdr35 A G 12: 9,070,000 (GRCm39) K857R probably benign Het
Zfp110 A G 7: 12,582,569 (GRCm39) T406A probably benign Het
Zfp52 T C 17: 21,782,084 (GRCm39) L644P possibly damaging Het
Zfp605 G A 5: 110,275,451 (GRCm39) V190I probably benign Het
Zfp964 A G 8: 70,116,733 (GRCm39) probably null Het
Zmynd8 A G 2: 165,649,805 (GRCm39) S779P probably benign Het
Zswim5 T A 4: 116,844,092 (GRCm39) N1043K 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
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
R5362:Atl2 UTSW 17 80,168,890 (GRCm39) missense probably damaging 1.00
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'- GGTGGCTCTGACGTAACTTCATCC -3'
(R):5'- TGGAAACAATGAACCCTTGACTGGC -3'

Sequencing Primer
(F):5'- CATCCTTTACATCTAAGGCAAAGTC -3'
(R):5'- AATGAACCCTTGACTGGCTTTAC -3'
Posted On 2014-05-09