Incidental Mutation 'R0620:Dio2'
ID 58619
Institutional Source Beutler Lab
Gene Symbol Dio2
Ensembl Gene ENSMUSG00000007682
Gene Name deiodinase, iodothyronine, type II
Synonyms
MMRRC Submission 038809-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R0620 (G1)
Quality Score 118
Status Validated
Chromosome 12
Chromosomal Location 90691326-90705812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90704845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 72 (Y72H)
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
AA Change: Y72H

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081013
Gene: ENSMUSG00000007682
AA Change: Y72H

DomainStartEndE-ValueType
Pfam:T4_deiodinase 4 259 1.6e-119 PFAM
Pfam:AhpC-TSA 78 237 1.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221942
Meta Mutation Damage Score 0.2029 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,835,094 (GRCm39) T679A possibly damaging Het
Ahr T C 12: 35,558,193 (GRCm39) T276A probably benign Het
Akap9 A T 5: 4,114,136 (GRCm39) Q3138H probably damaging Het
Armt1 T A 10: 4,382,689 (GRCm39) F7I probably benign Het
B3galt2 A G 1: 143,521,878 (GRCm39) R5G probably damaging Het
Bod1l T C 5: 41,958,576 (GRCm39) N2750S probably benign Het
Cadps2 T A 6: 23,583,395 (GRCm39) E365V probably damaging Het
Cd200r3 T A 16: 44,778,080 (GRCm39) probably null Het
Cemip2 T A 19: 21,795,335 (GRCm39) S743T probably benign Het
Cst7 T A 2: 150,417,806 (GRCm39) probably benign Het
Defb30 A T 14: 63,287,212 (GRCm39) probably benign Het
Dido1 C T 2: 180,301,644 (GRCm39) G2087S probably benign Het
Dnah11 C T 12: 117,951,204 (GRCm39) E3035K probably damaging Het
Dnajb13 T C 7: 100,152,456 (GRCm39) K287E possibly damaging Het
Dnajc11 G A 4: 152,058,085 (GRCm39) V244I possibly damaging Het
Ect2 C T 3: 27,193,801 (GRCm39) A226T probably damaging Het
Ercc8 G A 13: 108,310,595 (GRCm39) probably null Het
Fam120b T A 17: 15,623,189 (GRCm39) M389K probably benign Het
Fam151a A G 4: 106,605,128 (GRCm39) M497V probably benign Het
Fam186b C A 15: 99,178,009 (GRCm39) G439V probably benign Het
Fank1 A G 7: 133,478,494 (GRCm39) Y185C probably damaging Het
Gart T C 16: 91,427,490 (GRCm39) probably benign Het
Glb1l T C 1: 75,176,364 (GRCm39) Y572C probably damaging Het
Gm11563 C T 11: 99,549,263 (GRCm39) A164T unknown Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Gsdmc3 T A 15: 63,731,542 (GRCm39) D330V probably damaging Het
H2-DMa C T 17: 34,356,934 (GRCm39) T144M probably damaging Het
Haus6 A T 4: 86,501,751 (GRCm39) F707I possibly damaging Het
Hmcn1 T A 1: 150,469,767 (GRCm39) T4971S probably benign Het
Ints6 A T 14: 62,934,208 (GRCm39) F766L probably benign Het
Kdm5d T A Y: 927,330 (GRCm39) M650K probably damaging Het
Kif21b T C 1: 136,087,166 (GRCm39) F881S possibly damaging Het
Klrk1 C A 6: 129,591,598 (GRCm39) Q176H possibly damaging Het
Ky T C 9: 102,414,820 (GRCm39) V244A probably benign Het
Mia2 T A 12: 59,201,205 (GRCm39) L191M possibly damaging Het
Miga2 T A 2: 30,271,756 (GRCm39) probably benign Het
Mtss2 C T 8: 111,464,580 (GRCm39) P322S probably damaging Het
Nalcn A G 14: 123,536,553 (GRCm39) probably benign Het
Ncbp3 T A 11: 72,940,671 (GRCm39) probably benign Het
Nprl3 G A 11: 32,184,876 (GRCm39) L378F probably damaging Het
Ntrk2 A T 13: 58,994,635 (GRCm39) M184L probably benign Het
Or11g1 G T 14: 50,651,154 (GRCm39) C51F probably benign Het
Or9e1 T G 11: 58,732,269 (GRCm39) C110G probably damaging Het
Osbpl9 T C 4: 108,940,325 (GRCm39) E287G probably damaging Het
Parva T C 7: 112,175,618 (GRCm39) F250L probably damaging Het
Pcdhb11 C T 18: 37,554,864 (GRCm39) Q65* probably null Het
Phtf1 A G 3: 103,901,081 (GRCm39) T377A probably damaging Het
Pkp4 G A 2: 59,152,987 (GRCm39) V612I possibly damaging Het
Plscr2 C A 9: 92,169,707 (GRCm39) S52R probably benign Het
Pnisr C T 4: 21,874,092 (GRCm39) probably benign Het
Pole2 A C 12: 69,256,653 (GRCm39) S291A probably damaging Het
Ppp2r5d A G 17: 46,994,944 (GRCm39) F586L probably benign Het
Prrx1 G A 1: 163,085,385 (GRCm39) R182C probably damaging Het
Ptprs A G 17: 56,736,103 (GRCm39) I110T possibly damaging Het
Rasgrf2 G A 13: 92,067,936 (GRCm39) probably benign Het
Resf1 A T 6: 149,229,873 (GRCm39) Q973L probably damaging Het
Riox2 T C 16: 59,312,255 (GRCm39) V464A probably benign Het
Robo2 A G 16: 73,764,690 (GRCm39) V646A possibly damaging Het
Ros1 T A 10: 51,994,444 (GRCm39) I1279F probably damaging Het
Siglec1 G A 2: 130,916,188 (GRCm39) T1254M probably benign Het
Snx7 T C 3: 117,640,324 (GRCm39) N62D probably damaging Het
Sp100 G A 1: 85,587,588 (GRCm39) probably null Het
Stil A T 4: 114,864,356 (GRCm39) I86L possibly damaging Het
Tbc1d16 T A 11: 119,099,864 (GRCm39) D170V probably benign Het
Trappc13 G A 13: 104,297,589 (GRCm39) T105M probably damaging Het
Trhr T A 15: 44,092,896 (GRCm39) S378T probably benign Het
Ttc7b T C 12: 100,466,332 (GRCm39) probably null Het
Vegfc A T 8: 54,610,174 (GRCm39) Y110F probably benign Het
Vmn1r184 C A 7: 25,966,602 (GRCm39) P116H possibly damaging Het
Vmn2r5 A T 3: 64,411,235 (GRCm39) C444* probably null Het
Zfp341 A G 2: 154,476,193 (GRCm39) E460G possibly damaging Het
Zfp819 T A 7: 43,265,868 (GRCm39) V41E probably benign Het
Other mutations in Dio2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02665:Dio2 APN 12 90,696,427 (GRCm39) missense possibly damaging 0.87
IGL02832:Dio2 APN 12 90,696,178 (GRCm39) utr 3 prime probably benign
R0139:Dio2 UTSW 12 90,696,617 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TCCTACTGAAGTCACCAAGAGTCCC -3'
(R):5'- CTCAGCGTAGACTTGCTGATCACC -3'

Sequencing Primer
(F):5'- GTGTCTGTCACTCCCAAATCTAAC -3'
(R):5'- TCGGTCATTCTGCTCAAGCA -3'
Posted On 2013-07-11