Incidental Mutation 'R2094:Atg5'
ID 231980
Institutional Source Beutler Lab
Gene Symbol Atg5
Ensembl Gene ENSMUSG00000038160
Gene Name autophagy related 5
Synonyms 3110067M24Rik, 2010107M05Rik, Paddy, Apg5l
MMRRC Submission 040098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 44144354-44240287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44195544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 189 (I189M)
Ref Sequence ENSEMBL: ENSMUSP00000044769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039286]
AlphaFold Q99J83
Predicted Effect probably damaging
Transcript: ENSMUST00000039286
AA Change: I189M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044769
Gene: ENSMUSG00000038160
AA Change: I189M

DomainStartEndE-ValueType
Pfam:APG5 79 270 2.6e-64 PFAM
Meta Mutation Damage Score 0.7930 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Two transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutation of this gene results in impaired autophagy due to absence of autolysosomes. Homozygotes die within 1 day of birth, have shorter survival times and reduced amino acid levels under fasting conditions. Homozygotes for a gene trap insertion mutationin this gene show no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Atp6v1g2 A G 17: 35,455,785 (GRCm39) K16E probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Casd1 A G 6: 4,608,705 (GRCm39) Y101C probably damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Etv1 C A 12: 38,885,115 (GRCm39) P143Q probably null Het
Gimap8 A T 6: 48,627,502 (GRCm39) I159F probably benign Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rasgrp3 T C 17: 75,810,136 (GRCm39) S279P probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slc25a29 A T 12: 108,793,358 (GRCm39) N73K probably damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Wwp1 T C 4: 19,650,390 (GRCm39) T259A probably benign Het
Other mutations in Atg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Atg5 APN 10 44,239,040 (GRCm39) missense probably benign 0.00
P0041:Atg5 UTSW 10 44,165,938 (GRCm39) missense probably benign 0.20
R4906:Atg5 UTSW 10 44,239,046 (GRCm39) makesense probably null
R5718:Atg5 UTSW 10 44,238,983 (GRCm39) missense probably benign 0.01
R6194:Atg5 UTSW 10 44,170,612 (GRCm39) missense probably damaging 1.00
R6660:Atg5 UTSW 10 44,170,651 (GRCm39) missense probably benign
R7070:Atg5 UTSW 10 44,162,150 (GRCm39) missense probably damaging 1.00
R7677:Atg5 UTSW 10 44,223,035 (GRCm39) missense probably damaging 1.00
R8302:Atg5 UTSW 10 44,162,115 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGAGTGGCTAAGACTTTACTGTC -3'
(R):5'- CTGTAGCAGGTAGACGAATCAG -3'

Sequencing Primer
(F):5'- CAGTTTTGGGCCATCAAC -3'
(R):5'- AGTAGCAACTATGAGTCACTGC -3'
Posted On 2014-09-18