Incidental Mutation 'R6243:Atg16l2'
ID 526467
Institutional Source Beutler Lab
Gene Symbol Atg16l2
Ensembl Gene ENSMUSG00000047767
Gene Name autophagy related 16 like 2
Synonyms 2410118P20Rik
MMRRC Submission 044365-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6243 (G1)
Quality Score 157.009
Status Validated
Chromosome 7
Chromosomal Location 100935521-100951474 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to C at 100941536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamic Acid at position 404 (*404E)
Ref Sequence ENSEMBL: ENSMUSP00000117029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120267] [ENSMUST00000122116] [ENSMUST00000139609] [ENSMUST00000143630] [ENSMUST00000207740] [ENSMUST00000140553]
AlphaFold Q6KAU8
Predicted Effect probably benign
Transcript: ENSMUST00000120267
SMART Domains Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 20 211 2.3e-36 PFAM
WD40 329 368 1.13e-7 SMART
WD40 373 412 6.79e-2 SMART
WD40 415 454 1.08e-4 SMART
WD40 457 493 2.97e0 SMART
WD40 496 534 1.61e-3 SMART
WD40 539 580 1.66e0 SMART
WD40 583 623 2.8e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122116
SMART Domains Protein: ENSMUSP00000113320
Gene: ENSMUSG00000047767

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 17 212 5.4e-14 PFAM
WD40 308 347 1.13e-7 SMART
WD40 352 391 6.79e-2 SMART
WD40 394 433 1.08e-4 SMART
WD40 436 472 2.97e0 SMART
WD40 475 513 1.61e-3 SMART
WD40 518 559 1.66e0 SMART
WD40 562 602 2.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131988
Predicted Effect probably null
Transcript: ENSMUST00000139609
AA Change: *404E
SMART Domains Protein: ENSMUSP00000117387
Gene: ENSMUSG00000047767
AA Change: *404E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 17 212 1.8e-13 PFAM
WD40 329 368 1.13e-7 SMART
Blast:WD40 373 395 6e-7 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000143630
AA Change: *404E
SMART Domains Protein: ENSMUSP00000117029
Gene: ENSMUSG00000047767
AA Change: *404E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 17 212 1.8e-13 PFAM
WD40 329 368 1.13e-7 SMART
Blast:WD40 373 395 6e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134531
Predicted Effect probably benign
Transcript: ENSMUST00000207740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140059
SMART Domains Protein: ENSMUSP00000119734
Gene: ENSMUSG00000047767

DomainStartEndE-ValueType
WD40 76 115 1.13e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153327
Predicted Effect probably benign
Transcript: ENSMUST00000140553
SMART Domains Protein: ENSMUSP00000116414
Gene: ENSMUSG00000047767

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (73/74)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit lymphopenia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,450,809 (GRCm39) S331P probably damaging Het
Akap9 T G 5: 4,115,000 (GRCm39) probably null Het
Ankef1 A G 2: 136,379,077 (GRCm39) E9G probably damaging Het
Ap1g2 T C 14: 55,336,530 (GRCm39) E788G probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asrgl1 A T 19: 9,093,868 (GRCm39) I220K probably damaging Het
Atp4a T C 7: 30,415,382 (GRCm39) F334S possibly damaging Het
Atp6v0d1 T C 8: 106,292,495 (GRCm39) E17G probably benign Het
Bcat2 T C 7: 45,237,691 (GRCm39) V279A probably benign Het
Birc6 T G 17: 74,916,382 (GRCm39) M459R probably damaging Het
Bsn T C 9: 107,984,760 (GRCm39) Y3098C unknown Het
Btaf1 T A 19: 36,958,520 (GRCm39) M679K probably benign Het
Cirop T A 14: 54,933,216 (GRCm39) R322S probably damaging Het
Col6a4 T C 9: 105,890,589 (GRCm39) T1902A possibly damaging Het
Crhr1 G A 11: 104,064,740 (GRCm39) C364Y probably damaging Het
Crmp1 T C 5: 37,446,288 (GRCm39) L648P probably damaging Het
Cyfip1 T C 7: 55,550,277 (GRCm39) Y671H probably damaging Het
Cyp2b13 C T 7: 25,761,044 (GRCm39) P34S probably damaging Het
Dnajb6 T A 5: 29,986,131 (GRCm39) V233E probably benign Het
Dnhd1 A T 7: 105,301,216 (GRCm39) H191L probably damaging Het
Dsg3 T A 18: 20,672,781 (GRCm39) D817E probably damaging Het
Dytn T C 1: 63,686,680 (GRCm39) Q330R possibly damaging Het
Fads1 G T 19: 10,163,091 (GRCm39) E123* probably null Het
Fchsd2 T C 7: 100,921,016 (GRCm39) probably benign Het
Fmo9 T C 1: 166,494,938 (GRCm39) E270G probably benign Het
Folr1 T A 7: 101,513,172 (GRCm39) H41L probably damaging Het
Gm7298 A G 6: 121,756,096 (GRCm39) N985S possibly damaging Het
Gp1ba T C 11: 70,530,963 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Igf2bp3 A T 6: 49,084,362 (GRCm39) N285K possibly damaging Het
Lca5l G A 16: 95,980,112 (GRCm39) T6I possibly damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mpeg1 A G 19: 12,439,604 (GRCm39) H354R probably benign Het
Msh6 T A 17: 88,290,999 (GRCm39) V195E possibly damaging Het
Mtfmt C T 9: 65,351,182 (GRCm39) T243I probably benign Het
Myo1h T A 5: 114,500,208 (GRCm39) I195K probably damaging Het
Nr1h5 T C 3: 102,856,380 (GRCm39) K300E probably benign Het
Nuak2 T C 1: 132,260,105 (GRCm39) S628P probably benign Het
Nup214 G T 2: 31,892,944 (GRCm39) A721S possibly damaging Het
Or12e13 A G 2: 87,663,385 (GRCm39) M1V probably null Het
Or5d47 A G 2: 87,804,931 (GRCm39) V26A probably benign Het
Pclo T C 5: 14,726,457 (GRCm39) probably benign Het
Phf20 A G 2: 156,065,320 (GRCm39) S12G probably benign Het
Pik3r5 T C 11: 68,382,826 (GRCm39) Y289H probably damaging Het
Pld1 T C 3: 28,149,954 (GRCm39) I717T probably damaging Het
Plxdc1 A G 11: 97,846,299 (GRCm39) Y182H probably damaging Het
Ppid A G 3: 79,510,373 (GRCm39) I354V probably benign Het
Prss2 T C 6: 41,501,387 (GRCm39) V152A probably benign Het
Rab28 C T 5: 41,793,223 (GRCm39) A141T probably benign Het
Rabgap1l C T 1: 160,472,877 (GRCm39) probably null Het
Rabl6 T G 2: 25,475,415 (GRCm39) S553R probably damaging Het
Rars1 A G 11: 35,717,374 (GRCm39) F170S possibly damaging Het
Ror2 T A 13: 53,267,116 (GRCm39) M440L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph4a A T 10: 33,785,139 (GRCm39) Q350L probably damaging Het
Serpinb2 T C 1: 107,450,869 (GRCm39) F204L probably damaging Het
Sertad4 T C 1: 192,533,257 (GRCm39) probably null Het
Shisa3 C T 5: 67,768,486 (GRCm39) P129S probably benign Het
Slc13a2 G A 11: 78,295,534 (GRCm39) L111F probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Stab2 T A 10: 86,743,025 (GRCm39) R1195W probably damaging Het
Syna C A 5: 134,588,968 (GRCm39) probably benign Het
Thada A T 17: 84,744,030 (GRCm39) D759E probably benign Het
Thoc5 A G 11: 4,869,753 (GRCm39) Y385C possibly damaging Het
Thsd7a C T 6: 12,327,601 (GRCm39) D1424N probably damaging Het
Thsd7b A T 1: 130,090,599 (GRCm39) Q1204L probably benign Het
Tnfrsf8 T C 4: 145,029,671 (GRCm39) N43S possibly damaging Het
Trim66 T C 7: 109,059,481 (GRCm39) K921R probably benign Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ugt2a2 T G 5: 87,610,818 (GRCm39) K339N probably benign Het
Vmn2r8 T C 5: 108,947,211 (GRCm39) T514A probably benign Het
Wrn A T 8: 33,774,682 (GRCm39) M652K possibly damaging Het
Yme1l1 A T 2: 23,083,184 (GRCm39) Y550F probably benign Het
Zfp995 G A 17: 22,099,269 (GRCm39) P322S probably damaging Het
Other mutations in Atg16l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Atg16l2 APN 7 100,949,367 (GRCm39) missense probably damaging 1.00
IGL00402:Atg16l2 APN 7 100,945,360 (GRCm39) missense probably benign 0.00
IGL00662:Atg16l2 APN 7 100,939,103 (GRCm39) missense probably benign 0.00
IGL00905:Atg16l2 APN 7 100,949,373 (GRCm39) missense probably damaging 1.00
IGL01644:Atg16l2 APN 7 100,946,424 (GRCm39) makesense probably null
IGL02839:Atg16l2 APN 7 100,942,604 (GRCm39) missense probably damaging 1.00
R0316:Atg16l2 UTSW 7 100,942,603 (GRCm39) missense probably damaging 1.00
R0638:Atg16l2 UTSW 7 100,949,317 (GRCm39) critical splice donor site probably null
R0683:Atg16l2 UTSW 7 100,939,591 (GRCm39) missense probably damaging 1.00
R1436:Atg16l2 UTSW 7 100,940,757 (GRCm39) missense probably damaging 1.00
R1592:Atg16l2 UTSW 7 100,941,193 (GRCm39) missense probably damaging 1.00
R1623:Atg16l2 UTSW 7 100,939,113 (GRCm39) missense probably benign 0.01
R2002:Atg16l2 UTSW 7 100,944,127 (GRCm39) missense possibly damaging 0.62
R2090:Atg16l2 UTSW 7 100,942,575 (GRCm39) splice site probably null
R2103:Atg16l2 UTSW 7 100,939,568 (GRCm39) critical splice donor site probably null
R2349:Atg16l2 UTSW 7 100,945,746 (GRCm39) missense probably damaging 0.96
R4738:Atg16l2 UTSW 7 100,946,385 (GRCm39) missense probably damaging 1.00
R4739:Atg16l2 UTSW 7 100,946,385 (GRCm39) missense probably damaging 1.00
R4740:Atg16l2 UTSW 7 100,946,385 (GRCm39) missense probably damaging 1.00
R5704:Atg16l2 UTSW 7 100,949,418 (GRCm39) missense probably damaging 1.00
R6257:Atg16l2 UTSW 7 100,951,102 (GRCm39) splice site probably null
R6613:Atg16l2 UTSW 7 100,939,788 (GRCm39) critical splice donor site probably null
R7331:Atg16l2 UTSW 7 100,948,255 (GRCm39) missense probably damaging 1.00
R7349:Atg16l2 UTSW 7 100,939,473 (GRCm39) missense probably damaging 1.00
R7719:Atg16l2 UTSW 7 100,939,074 (GRCm39) missense probably damaging 1.00
R8186:Atg16l2 UTSW 7 100,945,714 (GRCm39) critical splice donor site probably null
R8500:Atg16l2 UTSW 7 100,939,473 (GRCm39) missense probably damaging 1.00
R8557:Atg16l2 UTSW 7 100,939,863 (GRCm39) missense probably benign 0.43
R9061:Atg16l2 UTSW 7 100,941,338 (GRCm39) missense probably damaging 0.99
R9225:Atg16l2 UTSW 7 100,951,188 (GRCm39) missense probably benign 0.00
R9561:Atg16l2 UTSW 7 100,948,248 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTAGCTGCCAAAACCTGGG -3'
(R):5'- AGGCTAAGAATCTCATTCCTGG -3'

Sequencing Primer
(F):5'- CAAAACCTGGGAGCCCTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2018-06-30