Incidental Mutation 'IGL02832:Dio2'
ID 361507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dio2
Ensembl Gene ENSMUSG00000007682
Gene Name deiodinase, iodothyronine, type II
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL02832
Quality Score
Status
Chromosome 12
Chromosomal Location 90691326-90705812 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to A at 90696178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082432]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000082432
SMART Domains Protein: ENSMUSP00000081013
Gene: ENSMUSG00000007682

DomainStartEndE-ValueType
Pfam:T4_deiodinase 4 259 1.6e-119 PFAM
Pfam:AhpC-TSA 78 237 1.2e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is highly expressed in brain, placenta and mammary gland. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. Knockout studies in mice suggest that this gene may play an important role in brown adipose tissue lipogenesis, auditory function, and bone formation. This protein is a selenoprotein containing the rare selenocysteine (Sec) amino acid at its active site, and may contain additional Sec residues. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display elevated thyroxine (T4) and thyroid-stimulating hormone levels, changes in the metabolism and excretion of iodothyronines, and impaired adaptive thermogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G A 6: 92,784,156 (GRCm39) T985M probably damaging Het
Alpk1 A G 3: 127,473,592 (GRCm39) S804P possibly damaging Het
Ap3b1 A G 13: 94,664,835 (GRCm39) I925V unknown Het
Cep135 T A 5: 76,788,796 (GRCm39) S1130T probably damaging Het
Cers3 A T 7: 66,431,573 (GRCm39) M183L probably benign Het
Col5a1 A G 2: 27,842,352 (GRCm39) E409G unknown Het
Cyp4a32 G T 4: 115,471,818 (GRCm39) V410F probably damaging Het
Ddx1 G A 12: 13,277,318 (GRCm39) Q528* probably null Het
Dnah9 G T 11: 65,931,172 (GRCm39) A2008E probably damaging Het
Dnajc2 A G 5: 21,965,408 (GRCm39) V457A probably benign Het
Dytn T C 1: 63,682,532 (GRCm39) T372A probably benign Het
Fam135a T C 1: 24,067,714 (GRCm39) I152V probably benign Het
Fmnl2 C T 2: 52,748,261 (GRCm39) A36V possibly damaging Het
Galnt7 G A 8: 58,005,531 (GRCm39) T234I probably damaging Het
Gba1 A C 3: 89,110,809 (GRCm39) I6L probably benign Het
Gja10 A G 4: 32,602,147 (GRCm39) V79A probably damaging Het
Gpd2 T A 2: 57,228,991 (GRCm39) V265E probably damaging Het
Gpld1 T C 13: 25,136,861 (GRCm39) Y60H probably damaging Het
H2bc27 A G 11: 58,839,869 (GRCm39) K35R probably benign Het
Heatr9 A G 11: 83,409,672 (GRCm39) probably benign Het
Krt75 T A 15: 101,476,508 (GRCm39) D419V probably benign Het
Lrig3 A T 10: 125,842,871 (GRCm39) I599F probably benign Het
Lrp4 A G 2: 91,341,925 (GRCm39) D1846G probably damaging Het
Mamdc2 C T 19: 23,281,215 (GRCm39) A653T probably damaging Het
Myo7a A T 7: 97,740,227 (GRCm39) probably null Het
Notch2 A G 3: 98,044,689 (GRCm39) D1537G probably benign Het
Or10k2 G A 8: 84,268,100 (GRCm39) C109Y probably damaging Het
Or51a25 G T 7: 102,372,858 (GRCm39) H280N probably benign Het
Or52ae7 A T 7: 103,119,905 (GRCm39) I220L probably benign Het
Papss1 A C 3: 131,288,280 (GRCm39) D84A probably damaging Het
Pcdhb16 T A 18: 37,611,527 (GRCm39) D162E probably damaging Het
Rab11fip1 C T 8: 27,642,840 (GRCm39) R653Q possibly damaging Het
Rap1gap2 A T 11: 74,303,281 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,777 (GRCm39) D990G probably damaging Het
Rnf32 T C 5: 29,410,701 (GRCm39) probably null Het
Rp1 T C 1: 4,419,936 (GRCm39) D392G probably benign Het
Scn9a T C 2: 66,398,373 (GRCm39) D79G probably damaging Het
Selenon A T 4: 134,268,219 (GRCm39) V438D probably damaging Het
Slc47a1 G A 11: 61,254,239 (GRCm39) H158Y probably benign Het
Slc5a12 A T 2: 110,471,160 (GRCm39) E463D probably benign Het
Taf2 C T 15: 54,879,959 (GRCm39) V1126M probably benign Het
Tas2r143 G T 6: 42,377,259 (GRCm39) V30L possibly damaging Het
Tcea3 G A 4: 135,995,424 (GRCm39) V256M probably damaging Het
Thy1 A G 9: 43,958,111 (GRCm39) T80A probably benign Het
Tmem9 A G 1: 135,947,469 (GRCm39) N47S probably damaging Het
Tmprss11g T C 5: 86,645,128 (GRCm39) Q101R probably benign Het
Trim66 C T 7: 109,059,704 (GRCm39) C792Y probably damaging Het
Tstd2 A T 4: 46,124,949 (GRCm39) M226K probably damaging Het
Utrn G T 10: 12,613,937 (GRCm39) T378K possibly damaging Het
Vmn2r23 A G 6: 123,681,355 (GRCm39) I88V probably benign Het
Other mutations in Dio2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02665:Dio2 APN 12 90,696,427 (GRCm39) missense possibly damaging 0.87
R0139:Dio2 UTSW 12 90,696,617 (GRCm39) missense probably damaging 1.00
R0620:Dio2 UTSW 12 90,704,845 (GRCm39) missense probably benign 0.24
R0908:Dio2 UTSW 12 90,696,422 (GRCm39) missense probably damaging 1.00
R1106:Dio2 UTSW 12 90,704,985 (GRCm39) missense probably damaging 1.00
R1799:Dio2 UTSW 12 90,696,680 (GRCm39) missense probably benign 0.00
R2099:Dio2 UTSW 12 90,696,597 (GRCm39) makesense probably null
R2101:Dio2 UTSW 12 90,696,597 (GRCm39) makesense probably null
R4615:Dio2 UTSW 12 90,696,595 (GRCm39) missense probably damaging 1.00
R6560:Dio2 UTSW 12 90,696,607 (GRCm39) nonsense probably null
R6960:Dio2 UTSW 12 90,696,671 (GRCm39) missense probably damaging 0.97
R7587:Dio2 UTSW 12 90,696,334 (GRCm39) missense probably benign 0.00
R9367:Dio2 UTSW 12 90,696,587 (GRCm39) missense probably benign 0.07
Z1177:Dio2 UTSW 12 90,696,686 (GRCm39) nonsense probably null
Posted On 2015-12-18