Incidental Mutation 'R1029:Atg2b'
ID 95165
Institutional Source Beutler Lab
Gene Symbol Atg2b
Ensembl Gene ENSMUSG00000041341
Gene Name autophagy related 2B
Synonyms C030004M05Rik, 2410024A21Rik, C630028L02Rik
MMRRC Submission 039131-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R1029 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 105582395-105651470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105602032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1648 (I1648T)
Ref Sequence ENSEMBL: ENSMUSP00000037441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041055]
AlphaFold Q80XK6
Predicted Effect probably damaging
Transcript: ENSMUST00000041055
AA Change: I1648T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: I1648T

DomainStartEndE-ValueType
Pfam:Chorein_N 11 127 3.5e-19 PFAM
low complexity region 286 298 N/A INTRINSIC
low complexity region 409 428 N/A INTRINSIC
low complexity region 864 870 N/A INTRINSIC
low complexity region 893 904 N/A INTRINSIC
low complexity region 1722 1733 N/A INTRINSIC
Pfam:ATG_C 1976 2071 1.4e-33 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000221015
AA Change: I488T
Meta Mutation Damage Score 0.8398 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.5%
Validation Efficiency 92% (36/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,376,177 (GRCm39) L230S probably damaging Het
4930505A04Rik A G 11: 30,396,389 (GRCm39) probably benign Het
Ccdc110 T C 8: 46,394,817 (GRCm39) F236S probably damaging Het
Ccdc178 T C 18: 22,230,782 (GRCm39) D363G possibly damaging Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Cog7 C T 7: 121,529,752 (GRCm39) probably null Het
Dnah7c A G 1: 46,651,881 (GRCm39) K1365E probably damaging Het
Dock9 T C 14: 121,837,096 (GRCm39) probably null Het
Ehd3 T A 17: 74,123,321 (GRCm39) I108N probably benign Het
Erbb4 A G 1: 68,348,773 (GRCm39) S535P probably damaging Het
Fam170a T C 18: 50,414,741 (GRCm39) V129A probably damaging Het
Gfra3 T C 18: 34,823,892 (GRCm39) T361A probably benign Het
Gm10295 A T 7: 71,000,448 (GRCm39) I44K unknown Het
Gm10553 T C 1: 85,078,170 (GRCm39) S96P probably benign Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Hspa13 A T 16: 75,562,125 (GRCm39) Y25N probably damaging Het
Lrfn3 G A 7: 30,055,347 (GRCm39) P533S probably damaging Het
Lrp4 A G 2: 91,317,372 (GRCm39) probably benign Het
Mical3 T C 6: 120,911,639 (GRCm39) D1991G probably benign Het
Myoz1 A G 14: 20,700,600 (GRCm39) Y206H probably damaging Het
Or2at1 A T 7: 99,416,431 (GRCm39) I21F probably benign Het
Otog A G 7: 45,924,019 (GRCm39) E1126G probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prkdc A G 16: 15,472,613 (GRCm39) probably benign Het
Pttg1ip2 C T 5: 5,505,919 (GRCm39) A121T probably benign Het
Rab7 A G 6: 87,990,624 (GRCm39) S17P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sppl2a A G 2: 126,765,514 (GRCm39) S203P probably benign Het
Taar7a A G 10: 23,868,439 (GRCm39) I314T possibly damaging Het
Tgs1 T C 4: 3,593,471 (GRCm39) I453T probably damaging Het
Tmem117 C A 15: 94,909,217 (GRCm39) T210N probably benign Het
Trim55 A G 3: 19,698,906 (GRCm39) N45S probably damaging Het
Ugt2b34 G C 5: 87,052,246 (GRCm39) S250* probably null Het
Vmn2r67 G A 7: 84,785,974 (GRCm39) T677I probably damaging Het
Zfp335 C G 2: 164,734,598 (GRCm39) probably benign Het
Znrf1 T A 8: 112,263,986 (GRCm39) Y72N probably damaging Het
Other mutations in Atg2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Atg2b APN 12 105,611,175 (GRCm39) missense probably benign 0.20
IGL01326:Atg2b APN 12 105,588,403 (GRCm39) missense probably damaging 1.00
IGL02063:Atg2b APN 12 105,614,581 (GRCm39) missense possibly damaging 0.89
IGL02260:Atg2b APN 12 105,602,699 (GRCm39) splice site probably benign
IGL02376:Atg2b APN 12 105,611,727 (GRCm39) missense probably damaging 1.00
IGL02381:Atg2b APN 12 105,614,607 (GRCm39) missense probably damaging 1.00
IGL02434:Atg2b APN 12 105,605,466 (GRCm39) missense probably benign 0.00
IGL02534:Atg2b APN 12 105,609,526 (GRCm39) missense probably damaging 1.00
IGL03011:Atg2b APN 12 105,592,621 (GRCm39) missense probably damaging 0.98
IGL03173:Atg2b APN 12 105,624,553 (GRCm39) missense possibly damaging 0.68
R6669_atg2b_067 UTSW 12 105,637,788 (GRCm39) missense possibly damaging 0.90
rail UTSW 12 105,625,099 (GRCm39) nonsense probably null
Sora UTSW 12 105,589,689 (GRCm39) missense probably benign 0.06
R0066:Atg2b UTSW 12 105,614,708 (GRCm39) missense probably benign
R0066:Atg2b UTSW 12 105,614,708 (GRCm39) missense probably benign
R0511:Atg2b UTSW 12 105,583,412 (GRCm39) missense probably damaging 1.00
R0762:Atg2b UTSW 12 105,641,229 (GRCm39) missense possibly damaging 0.56
R0786:Atg2b UTSW 12 105,602,767 (GRCm39) missense probably benign 0.00
R1529:Atg2b UTSW 12 105,627,392 (GRCm39) missense probably benign
R1563:Atg2b UTSW 12 105,589,747 (GRCm39) missense probably damaging 0.99
R1746:Atg2b UTSW 12 105,635,588 (GRCm39) missense possibly damaging 0.79
R1887:Atg2b UTSW 12 105,620,351 (GRCm39) missense probably benign 0.01
R1956:Atg2b UTSW 12 105,635,677 (GRCm39) missense probably damaging 1.00
R1957:Atg2b UTSW 12 105,635,677 (GRCm39) missense probably damaging 1.00
R2272:Atg2b UTSW 12 105,604,267 (GRCm39) missense probably benign 0.00
R2877:Atg2b UTSW 12 105,630,268 (GRCm39) nonsense probably null
R2878:Atg2b UTSW 12 105,630,268 (GRCm39) nonsense probably null
R4798:Atg2b UTSW 12 105,618,888 (GRCm39) missense probably benign 0.37
R4836:Atg2b UTSW 12 105,613,073 (GRCm39) missense probably benign
R5007:Atg2b UTSW 12 105,610,135 (GRCm39) splice site probably null
R5042:Atg2b UTSW 12 105,587,521 (GRCm39) missense probably benign 0.01
R5134:Atg2b UTSW 12 105,641,209 (GRCm39) missense probably damaging 0.96
R5212:Atg2b UTSW 12 105,613,055 (GRCm39) missense probably benign 0.00
R5250:Atg2b UTSW 12 105,602,024 (GRCm39) missense probably damaging 1.00
R5307:Atg2b UTSW 12 105,624,588 (GRCm39) missense probably benign 0.17
R5342:Atg2b UTSW 12 105,625,175 (GRCm39) missense possibly damaging 0.90
R5583:Atg2b UTSW 12 105,615,414 (GRCm39) missense possibly damaging 0.94
R5656:Atg2b UTSW 12 105,587,587 (GRCm39) missense probably benign 0.00
R5660:Atg2b UTSW 12 105,615,383 (GRCm39) nonsense probably null
R5903:Atg2b UTSW 12 105,605,618 (GRCm39) missense possibly damaging 0.90
R6018:Atg2b UTSW 12 105,627,430 (GRCm39) missense probably damaging 0.96
R6153:Atg2b UTSW 12 105,589,741 (GRCm39) missense possibly damaging 0.80
R6326:Atg2b UTSW 12 105,627,351 (GRCm39) nonsense probably null
R6584:Atg2b UTSW 12 105,624,254 (GRCm39) missense probably damaging 1.00
R6593:Atg2b UTSW 12 105,611,107 (GRCm39) missense probably damaging 1.00
R6669:Atg2b UTSW 12 105,637,788 (GRCm39) missense possibly damaging 0.90
R6847:Atg2b UTSW 12 105,602,047 (GRCm39) missense probably damaging 1.00
R7003:Atg2b UTSW 12 105,620,508 (GRCm39) missense probably benign 0.01
R7193:Atg2b UTSW 12 105,630,967 (GRCm39) missense probably damaging 1.00
R7387:Atg2b UTSW 12 105,589,034 (GRCm39) missense probably damaging 1.00
R7432:Atg2b UTSW 12 105,630,957 (GRCm39) missense probably benign 0.08
R7432:Atg2b UTSW 12 105,627,463 (GRCm39) missense probably damaging 0.98
R7630:Atg2b UTSW 12 105,613,213 (GRCm39) critical splice acceptor site probably null
R7634:Atg2b UTSW 12 105,618,379 (GRCm39) missense probably damaging 1.00
R7645:Atg2b UTSW 12 105,589,689 (GRCm39) missense probably benign 0.06
R7653:Atg2b UTSW 12 105,602,731 (GRCm39) missense possibly damaging 0.68
R8157:Atg2b UTSW 12 105,629,199 (GRCm39) missense probably damaging 1.00
R8222:Atg2b UTSW 12 105,618,475 (GRCm39) missense possibly damaging 0.95
R8469:Atg2b UTSW 12 105,604,170 (GRCm39) missense probably benign 0.00
R8708:Atg2b UTSW 12 105,635,687 (GRCm39) critical splice acceptor site probably benign
R8784:Atg2b UTSW 12 105,605,500 (GRCm39) missense probably damaging 1.00
R8975:Atg2b UTSW 12 105,602,725 (GRCm39) missense probably damaging 1.00
R8988:Atg2b UTSW 12 105,583,388 (GRCm39) missense probably damaging 0.97
R9071:Atg2b UTSW 12 105,625,099 (GRCm39) nonsense probably null
R9269:Atg2b UTSW 12 105,618,359 (GRCm39) missense probably damaging 1.00
R9355:Atg2b UTSW 12 105,636,980 (GRCm39) missense possibly damaging 0.48
R9402:Atg2b UTSW 12 105,614,682 (GRCm39) missense probably damaging 0.98
R9492:Atg2b UTSW 12 105,624,549 (GRCm39) missense probably benign 0.06
R9709:Atg2b UTSW 12 105,611,140 (GRCm39) missense probably damaging 1.00
R9717:Atg2b UTSW 12 105,605,561 (GRCm39) missense probably benign
R9746:Atg2b UTSW 12 105,630,197 (GRCm39) missense possibly damaging 0.84
X0018:Atg2b UTSW 12 105,632,956 (GRCm39) missense possibly damaging 0.86
X0066:Atg2b UTSW 12 105,613,044 (GRCm39) missense probably benign 0.12
Z1177:Atg2b UTSW 12 105,602,023 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTGTACCTGAGGTGTGAGACACTG -3'
(R):5'- GGAAAGCCCTGTGAACATCTGGAG -3'

Sequencing Primer
(F):5'- TCAGGGACACAGTTTGCAC -3'
(R):5'- gcatagacaaactcagccac -3'
Posted On 2014-01-05