Incidental Mutation 'R6369:Atl2'
ID 512877
Institutional Source Beutler Lab
Gene Symbol Atl2
Ensembl Gene ENSMUSG00000059811
Gene Name atlastin GTPase 2
Synonyms 2010110I21Rik, Aip-2, Arl6ip2
MMRRC Submission 044519-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6369 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 79848390-79896123 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79854555 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 205 (Q205R)
Ref Sequence ENSEMBL: ENSMUSP00000108056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193] [ENSMUST00000222415]
AlphaFold Q6PA06
Predicted Effect probably damaging
Transcript: ENSMUST00000068282
AA Change: Q376R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: Q376R

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: Q205R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: Q205R

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 noncoding transcript
Transcript: ENSMUST00000221286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221666
Predicted Effect probably benign
Transcript: ENSMUST00000222193
Predicted Effect probably benign
Transcript: ENSMUST00000222415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223273
Meta Mutation Damage Score 0.1505 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 13,835,343 (GRCm38) R571* probably null Het
Asb18 A T 1: 90,014,471 (GRCm38) I36N probably damaging Het
Ascc3 G A 10: 50,699,985 (GRCm38) G779S probably damaging Het
Axdnd1 A G 1: 156,392,745 (GRCm38) I235T probably damaging Het
Bri3bp A G 5: 125,454,701 (GRCm38) N237S probably damaging Het
Ccdc191 A G 16: 43,915,485 (GRCm38) N256S probably benign Het
Cchcr1 T C 17: 35,528,176 (GRCm38) I474T probably damaging Het
Cd209c T C 8: 3,944,984 (GRCm38) Y60C probably damaging Het
Cd300c C A 11: 114,957,555 (GRCm38) D171Y probably damaging Het
Crb1 C T 1: 139,237,462 (GRCm38) V975M probably damaging Het
Csmd1 C T 8: 17,535,004 (GRCm38) probably benign Het
Ctnna2 A G 6: 76,980,695 (GRCm38) S524P possibly damaging Het
Eno1 T C 4: 150,239,568 (GRCm38) probably null Het
Ero1l T C 14: 45,299,958 (GRCm38) I170M probably damaging Het
Fam186a A G 15: 99,947,331 (GRCm38) M344T unknown Het
Frem1 A T 4: 82,913,792 (GRCm38) probably null Het
Gjb5 G T 4: 127,355,930 (GRCm38) D140E possibly damaging Het
Gm11595 G A 11: 99,772,555 (GRCm38) R100C unknown Het
Hk2 G T 6: 82,736,753 (GRCm38) S449R probably damaging Het
Hs3st3a1 A T 11: 64,520,601 (GRCm38) I322F probably benign Het
Itga1 T C 13: 114,965,660 (GRCm38) I1145V probably damaging Het
Kcp A G 6: 29,484,694 (GRCm38) L1295S probably damaging Het
Macf1 T C 4: 123,410,562 (GRCm38) D49G possibly damaging Het
Mef2b T A 8: 70,165,559 (GRCm38) D96E probably benign Het
Megf10 A T 18: 57,261,187 (GRCm38) D461V probably benign Het
Myom1 T C 17: 71,101,076 (GRCm38) S1104P probably damaging Het
Nab1 A G 1: 52,490,222 (GRCm38) L172P probably damaging Het
Olfr123 T G 17: 37,795,496 (GRCm38) D17E probably benign Het
Pate1 A G 9: 35,687,028 (GRCm38) V18A probably benign Het
Pink1 T C 4: 138,320,734 (GRCm38) probably null Het
Pnpla1 T A 17: 28,878,481 (GRCm38) I207N probably damaging Het
Ppp1r12b T C 1: 134,886,542 (GRCm38) E341G possibly damaging Het
Ppp1r21 C A 17: 88,582,412 (GRCm38) probably null Het
Rad52 A G 6: 119,914,207 (GRCm38) E76G unknown Het
Rad54l A G 4: 116,111,189 (GRCm38) probably null Het
Rasgrf2 T C 13: 92,131,446 (GRCm38) M17V probably benign Het
Rbm42 A G 7: 30,641,313 (GRCm38) M411T unknown Het
Reln A G 5: 22,051,361 (GRCm38) I495T probably benign Het
Rnf224 A G 2: 25,235,942 (GRCm38) F133S probably damaging Het
Rrm1 C A 7: 102,446,702 (GRCm38) H87Q probably damaging Het
Sec14l2 T C 11: 4,103,962 (GRCm38) D235G possibly damaging Het
Serpinb3d G T 1: 107,080,753 (GRCm38) N127K probably benign Het
Skint7 A T 4: 111,980,293 (GRCm38) E89D probably benign Het
Slc22a5 T G 11: 53,891,370 (GRCm38) N57T probably damaging Het
Smarcd3 A T 5: 24,594,984 (GRCm38) F263I probably damaging Het
Sncaip A G 18: 52,868,604 (GRCm38) I66V probably damaging Het
Syngr1 A C 15: 80,115,590 (GRCm38) probably benign Het
Tbc1d2 A G 4: 46,614,420 (GRCm38) Y554H probably benign Het
Tmem198 T C 1: 75,479,743 (GRCm38) V44A probably benign Het
Trappc11 T C 8: 47,512,285 (GRCm38) probably null Het
Uox C T 3: 146,624,577 (GRCm38) R163* probably null Het
Vmn2r111 C T 17: 22,548,602 (GRCm38) C638Y probably damaging Het
Washc4 A G 10: 83,574,444 (GRCm38) Y632C probably damaging Het
Zfp212 T C 6: 47,930,897 (GRCm38) V270A probably benign Het
Zfp92 G A X: 73,421,968 (GRCm38) R189H possibly damaging Homo
Other mutations in Atl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Atl2 APN 17 79,859,785 (GRCm38) critical splice donor site probably null
IGL02692:Atl2 APN 17 79,865,053 (GRCm38) missense probably benign
IGL03127:Atl2 APN 17 79,852,854 (GRCm38) missense probably damaging 0.99
IGL03377:Atl2 APN 17 79,865,090 (GRCm38) missense probably damaging 1.00
R0164:Atl2 UTSW 17 79,853,831 (GRCm38) unclassified probably benign
R1203:Atl2 UTSW 17 79,852,905 (GRCm38) missense probably damaging 0.99
R1489:Atl2 UTSW 17 79,852,706 (GRCm38) missense probably benign 0.00
R1663:Atl2 UTSW 17 79,864,711 (GRCm38) missense probably damaging 1.00
R1977:Atl2 UTSW 17 79,852,590 (GRCm38) missense probably damaging 1.00
R2032:Atl2 UTSW 17 79,895,944 (GRCm38) missense probably benign
R4063:Atl2 UTSW 17 79,850,159 (GRCm38) makesense probably null
R5104:Atl2 UTSW 17 79,852,617 (GRCm38) missense probably benign 0.01
R5201:Atl2 UTSW 17 79,865,151 (GRCm38) missense probably benign
R5362:Atl2 UTSW 17 79,861,461 (GRCm38) missense probably damaging 1.00
R5387:Atl2 UTSW 17 79,852,800 (GRCm38) missense probably benign 0.03
R6128:Atl2 UTSW 17 79,865,041 (GRCm38) critical splice donor site probably null
R6416:Atl2 UTSW 17 79,850,223 (GRCm38) missense probably benign 0.00
R6597:Atl2 UTSW 17 79,852,766 (GRCm38) missense possibly damaging 0.68
R6885:Atl2 UTSW 17 79,852,553 (GRCm38) missense probably damaging 1.00
R7428:Atl2 UTSW 17 79,875,798 (GRCm38) splice site probably null
R7587:Atl2 UTSW 17 79,865,067 (GRCm38) missense probably benign 0.25
R7646:Atl2 UTSW 17 79,854,607 (GRCm38) missense probably damaging 1.00
R7781:Atl2 UTSW 17 79,859,831 (GRCm38) missense probably damaging 1.00
R7949:Atl2 UTSW 17 79,859,860 (GRCm38) missense probably damaging 1.00
R8170:Atl2 UTSW 17 79,856,261 (GRCm38) missense possibly damaging 0.95
R8313:Atl2 UTSW 17 79,852,604 (GRCm38) nonsense probably null
R8878:Atl2 UTSW 17 79,852,803 (GRCm38) missense probably benign 0.05
R8899:Atl2 UTSW 17 79,876,040 (GRCm38) missense probably benign 0.01
R9335:Atl2 UTSW 17 79,852,778 (GRCm38) missense probably benign 0.00
X0052:Atl2 UTSW 17 79,852,617 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTGAGGAATTGCCCAAAGTGG -3'
(R):5'- TGAGTTTTAAGGCCTAGAACTTCG -3'

Sequencing Primer
(F):5'- ATCCAGAGGCAGCTTGTTAC -3'
(R):5'- AAGGCCTAGAACTTCGTTTTTG -3'
Posted On 2018-04-27