Incidental Mutation 'R4063:Atl2'
ID 315991
Institutional Source Beutler Lab
Gene Symbol Atl2
Ensembl Gene ENSMUSG00000059811
Gene Name atlastin GTPase 2
Synonyms Arl6ip2, 2010110I21Rik, Aip-2
MMRRC Submission 041619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4063 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 80155819-80203552 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 80157588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 413 (*413W)
Ref Sequence ENSEMBL: ENSMUSP00000108056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193] [ENSMUST00000222415]
AlphaFold Q6PA06
Predicted Effect probably null
Transcript: ENSMUST00000068282
AA Change: *584W
SMART Domains Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: *584W

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 null
Transcript: ENSMUST00000112437
AA Change: *413W
SMART Domains Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: *413W

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 0.8872 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,854,606 (GRCm39) F145L probably benign Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Arhgef28 T C 13: 98,130,575 (GRCm39) D421G probably benign Het
Armh4 T A 14: 50,011,444 (GRCm39) M88L probably benign Het
B4galt7 C A 13: 55,756,152 (GRCm39) probably null Het
Bltp3b A G 10: 89,651,917 (GRCm39) N247S probably benign Het
C8g A T 2: 25,389,425 (GRCm39) S147T probably damaging Het
Clstn3 A T 6: 124,426,792 (GRCm39) Y510N possibly damaging Het
Cnot2 A G 10: 116,373,301 (GRCm39) V34A possibly damaging Het
Cyb5d2 A T 11: 72,686,606 (GRCm39) probably benign Het
Dnah5 T C 15: 28,421,144 (GRCm39) I3827T probably damaging Het
Dnah7a G T 1: 53,464,376 (GRCm39) Q3672K probably benign Het
Dock1 A T 7: 134,717,021 (GRCm39) Y1219F possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gm10719 G T 9: 3,019,043 (GRCm39) W96L probably damaging Het
H2-M2 G A 17: 37,792,399 (GRCm39) H291Y probably damaging Het
Hmgcl T C 4: 135,686,035 (GRCm39) Y167H probably damaging Het
Il22ra2 A T 10: 19,502,400 (GRCm39) D73V possibly damaging Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Irag1 G T 7: 110,522,984 (GRCm39) A359D probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lipf A G 19: 33,942,965 (GRCm39) N91S probably benign Het
M1ap A T 6: 82,980,756 (GRCm39) N214I probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mdga1 A G 17: 30,057,005 (GRCm39) C826R probably damaging Het
Msx1 C A 5: 37,981,365 (GRCm39) A105S probably benign Het
Or5ac23 A C 16: 59,149,243 (GRCm39) S210A probably benign Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Ppp1r13l A T 7: 19,103,978 (GRCm39) H153L probably benign Het
Pramel21 A G 4: 143,342,559 (GRCm39) D222G possibly damaging Het
Pramel29 T C 4: 143,935,265 (GRCm39) K161E possibly damaging Het
Proz A G 8: 13,114,621 (GRCm39) Y85C probably damaging Het
Prss50 A G 9: 110,687,480 (GRCm39) D141G probably benign Het
Rad54l2 T A 9: 106,597,613 (GRCm39) Q131L probably benign Het
Sdha A G 13: 74,472,077 (GRCm39) probably benign Het
Sema3d T A 5: 12,635,091 (GRCm39) I719N probably benign Het
Slc18b1 A T 10: 23,681,879 (GRCm39) I148L probably benign Het
Tacc2 G T 7: 130,330,852 (GRCm39) D2086Y probably damaging Het
Tchh T C 3: 93,354,298 (GRCm39) L1246P unknown Het
Tmprss11d T C 5: 86,457,177 (GRCm39) I161V probably benign Het
Trpc3 T C 3: 36,725,172 (GRCm39) D268G probably damaging Het
Trpm8 G A 1: 88,289,727 (GRCm39) R895H probably damaging Het
Txndc2 A G 17: 65,945,079 (GRCm39) I366T possibly damaging Het
Ugt2a3 T C 5: 87,484,725 (GRCm39) I100V probably benign Het
Upp1 C A 11: 9,081,709 (GRCm39) P82Q probably damaging Het
Vim A G 2: 13,584,827 (GRCm39) probably null Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Zdhhc14 G T 17: 5,802,983 (GRCm39) C362F probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zswim5 G A 4: 116,735,177 (GRCm39) G174D unknown 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
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'- TCAGGCAGTCACCGAGTCTAAG -3'
(R):5'- TTGCACATCCGTCTCATAGG -3'

Sequencing Primer
(F):5'- TCTAAGGAGACAGCAAAGAAGGC -3'
(R):5'- GCACATCCGTCTCATAGGATTTG -3'
Posted On 2015-05-15