Incidental Mutation 'R9071:Atg2b'
ID 689556
Institutional Source Beutler Lab
Gene Symbol Atg2b
Ensembl Gene ENSMUSG00000041341
Gene Name autophagy related 2B
Synonyms C030004M05Rik, 2410024A21Rik, C630028L02Rik
MMRRC Submission 068893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R9071 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 105582395-105651470 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 105625099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 626 (E626*)
Ref Sequence ENSEMBL: ENSMUSP00000037441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041055]
AlphaFold Q80XK6
Predicted Effect probably null
Transcript: ENSMUST00000041055
AA Change: E626*
SMART Domains Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: E626*

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
Meta Mutation Damage Score 0.9753 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G T 7: 41,274,783 (GRCm39) R162L probably benign Het
Alpi A G 1: 87,026,584 (GRCm39) V469A probably damaging Het
Amotl2 G T 9: 102,595,892 (GRCm39) probably benign Het
Ano3 T A 2: 110,625,418 (GRCm39) probably null Het
Atg16l1 G T 1: 87,683,907 (GRCm39) probably benign Het
B3galt9 T C 2: 34,728,435 (GRCm39) V78A probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Ccdc162 G A 10: 41,457,174 (GRCm39) Q1588* probably null Het
Cd3d A T 9: 44,896,340 (GRCm39) H43L probably benign Het
Cenpk C T 13: 104,378,870 (GRCm39) Q164* probably null Het
Clybl C A 14: 122,608,697 (GRCm39) D96E probably benign Het
Cog1 T C 11: 113,546,939 (GRCm39) V511A probably damaging Het
Crhr1 T A 11: 104,064,133 (GRCm39) I282N probably damaging Het
Crybg2 A G 4: 133,818,542 (GRCm39) N1433D probably damaging Het
Cspp1 A T 1: 10,159,121 (GRCm39) I516F possibly damaging Het
Cul9 T C 17: 46,837,379 (GRCm39) T1030A probably benign Het
Cyp2d10 T C 15: 82,288,361 (GRCm39) T313A probably damaging Het
Ddx11 T A 17: 66,450,736 (GRCm39) N549K probably damaging Het
Ddx41 A G 13: 55,680,219 (GRCm39) V391A probably damaging Het
Eif3a T C 19: 60,751,634 (GRCm39) D1227G unknown Het
Fam83f T C 15: 80,576,206 (GRCm39) Y286H probably damaging Het
Fasn T C 11: 120,708,324 (GRCm39) D647G probably damaging Het
Fat4 T C 3: 39,037,598 (GRCm39) V3750A probably benign Het
Golga2 T C 2: 32,178,364 (GRCm39) S14P probably damaging Het
Hgsnat A G 8: 26,436,302 (GRCm39) V584A possibly damaging Het
Ifi207 A T 1: 173,557,764 (GRCm39) F325I unknown Het
Igfals A T 17: 25,099,670 (GRCm39) I254F probably damaging Het
Matr3 T C 18: 35,705,803 (GRCm39) Y243H possibly damaging Het
Mki67 G C 7: 135,301,205 (GRCm39) D1276E probably benign Het
Moap1 T A 12: 102,709,364 (GRCm39) K62* probably null Het
Msto1 C A 3: 88,812,414 (GRCm39) probably benign Het
Myt1 A T 2: 181,448,420 (GRCm39) D697V possibly damaging Het
Nampt T A 12: 32,892,781 (GRCm39) V356E probably damaging Het
Nell2 T A 15: 95,244,682 (GRCm39) K472* probably null Het
Nfe2l3 A C 6: 51,434,243 (GRCm39) S268R probably benign Het
Or8b43 T C 9: 38,361,032 (GRCm39) I288T possibly damaging Het
Osbpl10 G T 9: 114,890,908 (GRCm39) V99L probably benign Het
Plod2 A G 9: 92,485,048 (GRCm39) I537M probably benign Het
Prdm4 A G 10: 85,729,076 (GRCm39) L770P probably benign Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Scaper T C 9: 55,771,803 (GRCm39) D371G probably benign Het
Sema3e A G 5: 14,282,154 (GRCm39) K430R probably benign Het
Sez6l A T 5: 112,573,603 (GRCm39) probably benign Het
Slco1a5 A T 6: 142,196,052 (GRCm39) I317N possibly damaging Het
Spata4 T G 8: 55,055,742 (GRCm39) F211C probably damaging Het
Sspo A G 6: 48,433,982 (GRCm39) E929G probably benign Het
Sult1e1 A C 5: 87,735,681 (GRCm39) probably benign Het
Tas2r125 A T 6: 132,887,400 (GRCm39) N263Y probably benign Het
Ugt3a1 T A 15: 9,370,224 (GRCm39) L456* probably null Het
Wdr20rt G A 12: 65,274,222 (GRCm39) V562I probably benign Het
Zc3h7b T C 15: 81,677,964 (GRCm39) *983Q probably null Het
Zfp28 T A 7: 6,397,544 (GRCm39) C660S 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
R1029:Atg2b UTSW 12 105,602,032 (GRCm39) missense probably damaging 0.96
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
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'- ACACATAACCTGTCTGCCTC -3'
(R):5'- AGCATGTAGAGACCCTTAAATGC -3'

Sequencing Primer
(F):5'- ATAACCTGTCTGCCTCCTCAGATAAC -3'
(R):5'- GAGACCCTTAAATGCTTCTTTTGTG -3'
Posted On 2021-11-19