Incidental Mutation 'R5387:Atl2'
ID 425376
Institutional Source Beutler Lab
Gene Symbol Atl2
Ensembl Gene ENSMUSG00000059811
Gene Name atlastin GTPase 2
Synonyms Arl6ip2, 2010110I21Rik, Aip-2
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 80155819-80203552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80160229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 453 (E453K)
Ref Sequence ENSEMBL: ENSMUSP00000064758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193] [ENSMUST00000222415]
AlphaFold Q6PA06
Predicted Effect probably benign
Transcript: ENSMUST00000068282
AA Change: E453K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: E453K

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 benign
Transcript: ENSMUST00000112437
AA Change: E282K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: E282K

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 0.0760 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,408,092 (GRCm39) S140T probably benign Het
Ahnak T C 19: 8,981,055 (GRCm39) S780P probably damaging Het
Ankhd1 C A 18: 36,767,697 (GRCm39) H1205N probably damaging Het
Ano1 T C 7: 144,202,356 (GRCm39) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm39) C114W probably damaging Het
Ascl1 C T 10: 87,328,551 (GRCm39) A134T probably damaging Het
Aup1 C T 6: 83,032,005 (GRCm39) A84V probably damaging Het
Btbd7 A T 12: 102,804,044 (GRCm39) M332K probably damaging Het
Cacna1d A G 14: 29,822,708 (GRCm39) V1107A probably damaging Het
Cd33 G A 7: 43,181,477 (GRCm39) Q114* probably null Het
Cdhr18 C A 14: 13,914,438 (GRCm38) M1I probably null Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Defb22 C A 2: 152,327,826 (GRCm39) A120S unknown Het
Dnah7b A G 1: 46,227,819 (GRCm39) I1347M probably damaging Het
Efcab5 A G 11: 77,025,668 (GRCm39) I549T possibly damaging Het
Esp15 T A 17: 39,955,468 (GRCm39) probably null Het
Fbxo7 A G 10: 85,860,518 (GRCm39) T42A probably benign Het
Filip1 A G 9: 79,725,556 (GRCm39) I1021T probably benign Het
Gad1 C A 2: 70,394,195 (GRCm39) S7* probably null Het
H2ac7 T A 13: 23,758,841 (GRCm39) probably null Het
H2-Q7 C T 17: 35,658,518 (GRCm39) T52M probably damaging Het
H2-T3 C T 17: 36,497,594 (GRCm39) G28R probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift81 A G 5: 122,693,598 (GRCm39) Y604H probably damaging Het
Igsf11 A G 16: 38,842,785 (GRCm39) Y154C probably damaging Het
Kif26b G T 1: 178,742,441 (GRCm39) A846S probably benign Het
Lnx2 G A 5: 146,964,964 (GRCm39) P420S probably benign Het
Lrit2 A G 14: 36,794,216 (GRCm39) T427A probably damaging Het
Lrrc43 G T 5: 123,637,734 (GRCm39) probably null Het
Mettl25b A T 3: 87,837,318 (GRCm39) probably benign Het
Mug1 T C 6: 121,861,353 (GRCm39) Y1325H probably damaging Het
Naglu A T 11: 100,967,550 (GRCm39) Y500F probably damaging Het
Npy4r A G 14: 33,868,940 (GRCm39) M116T probably benign Het
Nrdc A G 4: 108,896,959 (GRCm39) Y526C probably damaging Het
Nrp2 T C 1: 62,801,972 (GRCm39) S472P probably benign Het
Or12d2 T A 17: 37,625,183 (GRCm39) T31S probably benign Het
Or12k8 T C 2: 36,975,731 (GRCm39) T10A possibly damaging Het
Otogl T A 10: 107,616,794 (GRCm39) T1828S probably benign Het
Pank2 C T 2: 131,116,182 (GRCm39) T200I probably benign Het
Pbrm1 A G 14: 30,804,567 (GRCm39) Y946C probably damaging Het
Pde12 A T 14: 26,387,608 (GRCm39) S437T probably benign Het
Pikfyve A G 1: 65,304,427 (GRCm39) K1710E possibly damaging Het
Plcd3 A G 11: 102,969,281 (GRCm39) S229P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkaa2 C A 4: 104,897,374 (GRCm39) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,321,303 (GRCm39) S620P probably damaging Het
Rab33b A G 3: 51,400,876 (GRCm39) T117A probably damaging Het
Rasal2 T C 1: 156,985,335 (GRCm39) D804G possibly damaging Het
Rbp3 A G 14: 33,678,370 (GRCm39) T773A possibly damaging Het
Rspry1 A G 8: 95,364,914 (GRCm39) T185A possibly damaging Het
Sec61a2 G T 2: 5,887,356 (GRCm39) probably benign Het
Setx C T 2: 29,037,606 (GRCm39) R1364C probably benign Het
Shtn1 G T 19: 59,026,801 (GRCm39) L97M probably damaging Het
Slc35f1 T C 10: 52,984,260 (GRCm39) L340P probably damaging Het
Slc45a1 T A 4: 150,728,366 (GRCm39) probably benign Het
Slmap T C 14: 26,181,088 (GRCm39) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm39) A924V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Tecta G A 9: 42,286,359 (GRCm39) L766F probably damaging Het
Tle3 C T 9: 61,314,771 (GRCm39) probably null Het
Top3a A G 11: 60,653,316 (GRCm39) F53L probably damaging Het
Trappc2b A T 11: 51,576,801 (GRCm39) D32E probably benign Het
Trem1 T C 17: 48,548,541 (GRCm39) I26T possibly damaging Het
Ttc7b G T 12: 100,413,222 (GRCm39) Q199K possibly damaging Het
Ubap2l T C 3: 89,913,903 (GRCm39) Y975C probably benign Het
Ubxn11 C A 4: 133,850,737 (GRCm39) D196E probably damaging Het
Unc80 A G 1: 66,569,180 (GRCm39) H945R possibly damaging Het
Usp15 A G 10: 122,967,191 (GRCm39) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm39) E138K probably damaging Het
Wapl A G 14: 34,399,252 (GRCm39) E107G probably benign Het
Wbp1l T C 19: 46,632,896 (GRCm39) probably null Het
Zfp184 T G 13: 22,133,810 (GRCm39) probably benign Het
Zfp36 A C 7: 28,077,293 (GRCm39) L205R possibly 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
R5362:Atl2 UTSW 17 80,168,890 (GRCm39) missense probably damaging 1.00
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'- CAAAGGGACGTCAGTGCTAG -3'
(R):5'- TGAGCAAGGAACACTTTTCAAG -3'

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