Incidental Mutation 'R1106:Dio2'
ID 98491
Institutional Source Beutler Lab
Gene Symbol Dio2
Ensembl Gene ENSMUSG00000007682
Gene Name deiodinase, iodothyronine, type II
Synonyms
MMRRC Submission 039179-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R1106 (G1)
Quality Score 161
Status Not validated
Chromosome 12
Chromosomal Location 90691326-90705812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90704985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 25 (L25P)
Ref Sequence ENSEMBL: ENSMUSP00000081013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082432]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082432
AA Change: L25P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081013
Gene: ENSMUSG00000007682
AA Change: L25P

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic5 C A 3: 81,911,897 (GRCm39) F122L probably damaging Het
Caml A G 13: 55,772,538 (GRCm39) T61A probably benign Het
Cfap20 A T 8: 96,147,873 (GRCm39) I156N probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Eps8 G A 6: 137,491,322 (GRCm39) P352L probably damaging Het
Gnai2 A G 9: 107,497,385 (GRCm39) I3T probably damaging Het
Hexim2 T C 11: 103,029,319 (GRCm39) S124P probably damaging Het
Klk1b16 C T 7: 43,788,937 (GRCm39) R57C probably damaging Het
Mier3 A T 13: 111,844,763 (GRCm39) D205V probably damaging Het
Or2y14 A G 11: 49,404,519 (GRCm39) D18G probably damaging Het
Or4c102 T C 2: 88,422,355 (GRCm39) V69A probably benign Het
Ptprz1 A G 6: 22,965,748 (GRCm39) D192G probably damaging Het
Samd3 G A 10: 26,147,689 (GRCm39) V455M possibly damaging Het
Slc9c1 C A 16: 45,376,170 (GRCm39) Q419K possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tas2r139 A G 6: 42,118,479 (GRCm39) T204A probably benign Het
Ush2a G A 1: 188,643,180 (GRCm39) E4181K possibly damaging Het
Vps37a T A 8: 40,965,247 (GRCm39) I33N probably damaging Het
Zfp335 TTGCTGCTGCTGCTGCTGCT TTGCTGCTGCTGCTGCT 2: 164,749,471 (GRCm39) probably benign Het
Zik1 G A 7: 10,224,312 (GRCm39) R262C probably damaging 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
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
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'- TGTGCAACAGGTGTCCCAAGTG -3'
(R):5'- TGCAGAGCCTGAACCTGGTCTTTC -3'

Sequencing Primer
(F):5'- CCGTGGAACATAGTCACTGG -3'
(R):5'- TCTTTCAAAGAAGAGACAAGTTGG -3'
Posted On 2014-01-05