Incidental Mutation 'I0000:Tango2'
ID 7839
Institutional Source Beutler Lab
Gene Symbol Tango2
Ensembl Gene ENSMUSG00000013539
Gene Name transport and golgi organization 2
Synonyms D16H22S680E, T10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # I0000 (G3) of strain 635
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 18118689-18165962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18130530 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Arginine to Tryptophan at position 80 (R80W)
Ref Sequence ENSEMBL: ENSMUSP00000156240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115628] [ENSMUST00000125287] [ENSMUST00000128580] [ENSMUST00000130752] [ENSMUST00000231372] [ENSMUST00000232588] [ENSMUST00000231543] [ENSMUST00000231605]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000115628
AA Change: R80W

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111291
Gene: ENSMUSG00000013539
AA Change: R80W

DomainStartEndE-ValueType
Pfam:TANGO2 1 259 4.6e-77 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125287
AA Change: R80W

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000128580
AA Change: R80W

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121582
Gene: ENSMUSG00000013539
AA Change: R80W

DomainStartEndE-ValueType
Pfam:NRDE 1 151 4.5e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130752
AA Change: R80W

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121300
Gene: ENSMUSG00000013539
AA Change: R80W

DomainStartEndE-ValueType
Pfam:NRDE 1 118 6.6e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152684
Predicted Effect possibly damaging
Transcript: ENSMUST00000231372
AA Change: R29W

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232588
AA Change: R80W

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232073
Predicted Effect probably benign
Transcript: ENSMUST00000231543
Predicted Effect probably benign
Transcript: ENSMUST00000231605
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 90.9%
  • 3x: 86.6%
Validation Efficiency 67% (62/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]
Allele List at MGI

All alleles(8) : Gene trapped(8)
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,376,716 (GRCm39) V1933A probably damaging Het
Acsm4 T A 7: 119,310,415 (GRCm39) F467I probably damaging Het
Ankrd55 A T 13: 112,485,259 (GRCm39) probably benign Het
Bfsp1 T C 2: 143,687,888 (GRCm39) Y179C probably damaging Het
Ccdc61 A G 7: 18,637,474 (GRCm39) I51T probably damaging Het
Ccdc81 A G 7: 89,547,259 (GRCm39) L43P probably damaging Het
Ddias A G 7: 92,515,848 (GRCm39) V15A possibly damaging Het
Dpp6 A T 5: 27,603,920 (GRCm39) T62S probably benign Het
Ereg G A 5: 91,237,068 (GRCm39) C129Y probably benign Het
Fras1 G A 5: 96,888,688 (GRCm39) G2745S probably damaging Het
Gzf1 C T 2: 148,528,540 (GRCm39) probably benign Het
Herc2 T A 7: 55,786,477 (GRCm39) probably benign Het
Hsd17b4 A G 18: 50,293,295 (GRCm39) D278G probably benign Homo
Ifitm3 A G 7: 140,590,441 (GRCm39) S40P possibly damaging Het
Klf5 C T 14: 99,540,911 (GRCm39) T307M probably damaging Homo
Lnpep A T 17: 17,799,233 (GRCm39) C141S probably damaging Homo
Mmp19 A T 10: 128,634,329 (GRCm39) D362V probably benign Het
Or4a72 T C 2: 89,405,497 (GRCm39) Y191C probably damaging Het
Pnpla6 G A 8: 3,592,322 (GRCm39) A1222T probably benign Het
Rbm26 C A 14: 105,391,003 (GRCm39) R161L unknown Homo
Selenon G A 4: 134,270,012 (GRCm39) probably benign Het
Septin11 A G 5: 93,313,118 (GRCm39) T322A probably benign Het
Sh3bp4 T A 1: 89,065,518 (GRCm39) D37E probably benign Het
Tjap1 C T 17: 46,569,955 (GRCm39) C345Y probably damaging Homo
Wdr62 T C 7: 29,944,752 (GRCm39) D455G probably benign Het
Zbtb48 A G 4: 152,104,315 (GRCm39) I671T probably benign Het
Zfp318 T C 17: 46,710,485 (GRCm39) L736P probably damaging Homo
Other mutations in Tango2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02458:Tango2 APN 16 18,128,731 (GRCm39) critical splice donor site probably null
IGL02751:Tango2 APN 16 18,125,857 (GRCm39) missense probably benign 0.01
D4186:Tango2 UTSW 16 18,130,530 (GRCm39) missense possibly damaging 0.83
R2179:Tango2 UTSW 16 18,128,762 (GRCm39) missense probably damaging 1.00
R4273:Tango2 UTSW 16 18,120,654 (GRCm39) unclassified probably benign
R4536:Tango2 UTSW 16 18,142,219 (GRCm39) critical splice donor site probably null
R4576:Tango2 UTSW 16 18,119,392 (GRCm39) missense probably damaging 1.00
R4860:Tango2 UTSW 16 18,128,765 (GRCm39) synonymous silent
R5988:Tango2 UTSW 16 18,120,554 (GRCm39) missense probably damaging 1.00
R6392:Tango2 UTSW 16 18,119,403 (GRCm39) missense probably damaging 0.99
R7596:Tango2 UTSW 16 18,120,574 (GRCm39) missense probably damaging 1.00
R8967:Tango2 UTSW 16 18,165,763 (GRCm39) start gained probably benign
X0062:Tango2 UTSW 16 18,120,579 (GRCm39) splice site probably null
Posted On 2012-11-05