Incidental Mutation 'R8739:Thrb'
ID 663243
Institutional Source Beutler Lab
Gene Symbol Thrb
Ensembl Gene ENSMUSG00000021779
Gene Name thyroid hormone receptor beta
Synonyms T3R[b], TR beta, c-erbAbeta, Nr1a2, Thrb1, Thrb2, T3Rbeta
MMRRC Submission 068586-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.623) question?
Stock # R8739 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 4431611-4809435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17963082 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 15 (D15G)
Ref Sequence ENSEMBL: ENSMUSP00000089053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022303] [ENSMUST00000091471] [ENSMUST00000224470] [ENSMUST00000224597] [ENSMUST00000224934]
AlphaFold P37242
Predicted Effect probably benign
Transcript: ENSMUST00000022303
AA Change: D15G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779
AA Change: D15G

DomainStartEndE-ValueType
ZnF_C4 104 177 2.88e-36 SMART
low complexity region 188 203 N/A INTRINSIC
HOLI 274 432 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091471
AA Change: D15G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779
AA Change: D15G

DomainStartEndE-ValueType
ZnF_C4 104 177 2.88e-36 SMART
low complexity region 188 203 N/A INTRINSIC
HOLI 274 432 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224470
AA Change: D15G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000224597
AA Change: D15G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000224934
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit elevated T3, T4, and TSH serum levels, abnormal ear morphology, deafness, and abnormal thyroid morphology. Mice homozygous for allele with point mutations exhibit disruption in thyroid hormone sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 T C 8: 41,133,480 (GRCm39) V316A possibly damaging Het
Adamts9 T C 6: 92,831,261 (GRCm39) E1364G probably benign Het
Agrn C T 4: 156,257,045 (GRCm39) R1233Q probably benign Het
Ankrd6 A G 4: 32,806,337 (GRCm39) S639P possibly damaging Het
Arid5a A G 1: 36,358,677 (GRCm39) N418S probably benign Het
Cep152 T C 2: 125,461,975 (GRCm39) E69G probably benign Het
Chrnb2 A G 3: 89,669,746 (GRCm39) S109P probably damaging Het
Chuk A G 19: 44,077,135 (GRCm39) S404P probably benign Het
Clec4a3 T C 6: 122,944,508 (GRCm39) Y185H probably damaging Het
Dctd T A 8: 48,591,883 (GRCm39) L149H probably benign Het
Dgkb T A 12: 38,278,323 (GRCm39) probably benign Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dnah5 G A 15: 28,346,006 (GRCm39) A2449T probably benign Het
Dync1h1 T C 12: 110,581,014 (GRCm39) V247A probably damaging Het
Eef1ece2 G A 16: 20,449,665 (GRCm39) probably benign Het
Espnl T A 1: 91,272,317 (GRCm39) L559Q probably damaging Het
Gak A G 5: 108,739,604 (GRCm39) V627A possibly damaging Het
Gcnt1 A T 19: 17,307,437 (GRCm39) M96K probably benign Het
Ggta1 T C 2: 35,292,572 (GRCm39) D245G probably damaging Het
Hfm1 A T 5: 107,046,371 (GRCm39) F505Y probably damaging Het
Inpp4a A G 1: 37,422,207 (GRCm39) probably benign Het
Kcnj14 C G 7: 45,468,812 (GRCm39) R231P probably damaging Het
Lamc2 A T 1: 153,020,399 (GRCm39) C382* probably null Het
Marveld3 T C 8: 110,688,609 (GRCm39) E44G possibly damaging Het
Mettl17 T C 14: 52,128,848 (GRCm39) F373L possibly damaging Het
Morc3 T A 16: 93,657,398 (GRCm39) L374Q probably damaging Het
Muc16 C T 9: 18,548,594 (GRCm39) D5900N probably benign Het
Myo15a A G 11: 60,368,088 (GRCm39) N283D probably benign Het
Ncapg2 T G 12: 116,379,098 (GRCm39) D197E possibly damaging Het
Nipbl T C 15: 8,332,904 (GRCm39) T2240A probably benign Het
Nrip1 A C 16: 76,088,236 (GRCm39) V1107G possibly damaging Het
Or13a19 T C 7: 139,902,647 (GRCm39) F12L probably damaging Het
Or4d5 G A 9: 40,012,636 (GRCm39) T50I probably benign Het
Or4f52 C A 2: 111,061,834 (GRCm39) M101I probably benign Het
Pcdhb11 T A 18: 37,555,549 (GRCm39) I293K probably damaging Het
Pcsk5 G T 19: 17,432,138 (GRCm39) H1492Q probably benign Het
Pdcd4 T A 19: 53,899,405 (GRCm39) Y131* probably null Het
Pdf T A 8: 107,773,796 (GRCm39) M216L probably damaging Het
Pira13 A T 7: 3,828,188 (GRCm39) S40T Het
Plch1 T C 3: 63,778,106 (GRCm39) H17R possibly damaging Het
Prkdc T G 16: 15,626,068 (GRCm39) S3365A probably benign Het
Rab3c T C 13: 110,397,135 (GRCm39) T44A probably damaging Het
Rad17 T C 13: 100,765,998 (GRCm39) T377A probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf215 T G 11: 4,085,959 (GRCm39) probably null Het
Sec31b G A 19: 44,507,620 (GRCm39) T808I probably benign Het
Selenbp1 A T 3: 94,844,601 (GRCm39) D86V probably damaging Het
Smurf2 G T 11: 106,743,322 (GRCm39) Y241* probably null Het
Spint1 T C 2: 119,079,286 (GRCm39) V456A possibly damaging Het
Spmap2 G T 10: 79,419,581 (GRCm39) N240K possibly damaging Het
Stx5a A T 19: 8,725,924 (GRCm39) I175F probably damaging Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tfb1m T C 17: 3,569,927 (GRCm39) E313G probably benign Het
Tln2 T C 9: 67,165,555 (GRCm39) K1045R probably damaging Het
Tmx2 T C 2: 84,505,745 (GRCm39) probably benign Het
Trabd T C 15: 88,969,152 (GRCm39) I192T probably damaging Het
Try5 T A 6: 41,288,637 (GRCm39) D194V probably damaging Het
Ttc21a A G 9: 119,796,371 (GRCm39) N1263S probably benign Het
Ttll13 T C 7: 79,902,923 (GRCm39) I197T probably damaging Het
Virma T C 4: 11,540,643 (GRCm39) probably null Het
Other mutations in Thrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Thrb APN 14 18,011,056 (GRCm38) splice site probably benign
IGL02488:Thrb APN 14 18,033,455 (GRCm38) missense probably damaging 0.98
IGL02598:Thrb APN 14 18,008,606 (GRCm38) missense possibly damaging 0.95
IGL02707:Thrb APN 14 18,026,721 (GRCm38) missense probably benign 0.42
harry UTSW 14 18,011,145 (GRCm38) nonsense probably null
R0479:Thrb UTSW 14 18,033,643 (GRCm38) missense probably damaging 0.99
R0988:Thrb UTSW 14 17,981,837 (GRCm38) intron probably benign
R1257:Thrb UTSW 14 18,008,642 (GRCm38) missense probably damaging 1.00
R1522:Thrb UTSW 14 18,002,597 (GRCm38) missense probably damaging 1.00
R1927:Thrb UTSW 14 18,008,674 (GRCm38) missense probably damaging 1.00
R2100:Thrb UTSW 14 18,030,393 (GRCm38) missense possibly damaging 0.73
R2134:Thrb UTSW 14 18,033,487 (GRCm38) missense probably benign 0.22
R3551:Thrb UTSW 14 17,963,214 (GRCm38) missense probably damaging 0.99
R3888:Thrb UTSW 14 18,033,551 (GRCm38) missense probably damaging 1.00
R3975:Thrb UTSW 14 18,033,456 (GRCm38) missense probably damaging 1.00
R4294:Thrb UTSW 14 18,011,145 (GRCm38) nonsense probably null
R4371:Thrb UTSW 14 18,030,275 (GRCm38) missense probably damaging 1.00
R4454:Thrb UTSW 14 18,011,187 (GRCm38) missense probably damaging 0.97
R4457:Thrb UTSW 14 18,011,187 (GRCm38) missense probably damaging 0.97
R4486:Thrb UTSW 14 17,925,640 (GRCm38) start codon destroyed probably null 0.72
R4961:Thrb UTSW 14 18,011,076 (GRCm38) missense probably benign 0.39
R5184:Thrb UTSW 14 18,011,181 (GRCm38) nonsense probably null
R5609:Thrb UTSW 14 18,033,526 (GRCm38) missense probably benign 0.22
R6023:Thrb UTSW 14 18,011,209 (GRCm38) missense probably damaging 0.98
R6891:Thrb UTSW 14 17,981,899 (GRCm38) missense probably benign
R7288:Thrb UTSW 14 18,030,186 (GRCm38) missense probably damaging 1.00
R7294:Thrb UTSW 14 17,826,963 (GRCm38) start gained probably benign
R7780:Thrb UTSW 14 18,008,608 (GRCm38) missense possibly damaging 0.73
R8098:Thrb UTSW 14 18,008,645 (GRCm38) missense probably damaging 1.00
R8788:Thrb UTSW 14 18,002,558 (GRCm38) missense probably damaging 1.00
R8978:Thrb UTSW 14 17,981,886 (GRCm38) missense possibly damaging 0.84
R9314:Thrb UTSW 14 17,963,208 (GRCm38) missense probably benign
Z1177:Thrb UTSW 14 18,033,433 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAATCAGCTTAGGTGGGTGG -3'
(R):5'- TCTGGGCACTTGAGATGCTC -3'

Sequencing Primer
(F):5'- GCTCTTTGCCCTGACATTATAGAAG -3'
(R):5'- TTCACATCGTCAGGATCCAGGTG -3'
Posted On 2021-03-08