Incidental Mutation 'R1522:Thrb'
ID 167554
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 040871-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.623) question?
Stock # R1522 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 4431611-4809435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18002597 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 87 (H87R)
Ref Sequence ENSEMBL: ENSMUSP00000153355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022303] [ENSMUST00000022304] [ENSMUST00000091471] [ENSMUST00000224934]
AlphaFold P37242
Predicted Effect probably damaging
Transcript: ENSMUST00000022303
AA Change: H118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779
AA Change: H118R

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 damaging
Transcript: ENSMUST00000022304
AA Change: H132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022304
Gene: ENSMUSG00000021779
AA Change: H132R

DomainStartEndE-ValueType
ZnF_C4 118 191 2.88e-36 SMART
low complexity region 202 217 N/A INTRINSIC
HOLI 288 446 9.29e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000091471
AA Change: H118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779
AA Change: H118R

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 noncoding transcript
Transcript: ENSMUST00000224512
Predicted Effect probably damaging
Transcript: ENSMUST00000224934
AA Change: H87R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225876
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,139,568 (GRCm39) S498P probably damaging Het
3100002H09Rik A G 4: 124,504,487 (GRCm39) W22R probably damaging Het
AA986860 A G 1: 130,670,831 (GRCm39) E351G probably damaging Het
Acsl5 T C 19: 55,268,924 (GRCm39) V195A probably benign Het
Actmap A G 7: 26,902,105 (GRCm39) H244R probably damaging Het
Adamts10 A G 17: 33,756,293 (GRCm39) D312G probably benign Het
Adgrb1 A G 15: 74,452,466 (GRCm39) M211V probably damaging Het
Ankfy1 C T 11: 72,646,693 (GRCm39) R859* probably null Het
Atp8b1 T A 18: 64,683,503 (GRCm39) I742L probably benign Het
B3galnt2 T A 13: 14,145,354 (GRCm39) V89E probably damaging Het
Brinp3 A C 1: 146,777,628 (GRCm39) T692P probably damaging Het
C9 T A 15: 6,516,243 (GRCm39) F349I probably damaging Het
Cacna1a T A 8: 85,360,062 (GRCm39) M1976K probably benign Het
Castor2 T G 5: 134,154,726 (GRCm39) S43R probably damaging Het
Ccdc180 T C 4: 45,927,975 (GRCm39) V1170A possibly damaging Het
Celsr1 A G 15: 85,815,477 (GRCm39) V1846A probably benign Het
Ces1f A T 8: 93,998,517 (GRCm39) Y160N possibly damaging Het
Cfap45 A G 1: 172,368,139 (GRCm39) E377G probably damaging Het
Clca3a1 T A 3: 144,460,932 (GRCm39) M240L probably benign Het
Clnk G A 5: 38,952,309 (GRCm39) T10M probably damaging Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Col11a2 G A 17: 34,274,228 (GRCm39) G375S probably damaging Het
Col6a5 T A 9: 105,817,193 (GRCm39) I373F unknown Het
Dmxl1 C T 18: 49,985,434 (GRCm39) A227V probably benign Het
Dok5 A G 2: 170,574,052 (GRCm39) N4D probably benign Het
Dpysl3 A T 18: 43,496,622 (GRCm39) V138D probably damaging Het
Efs A T 14: 55,157,172 (GRCm39) Y380N probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Farp2 A G 1: 93,546,275 (GRCm39) Q855R possibly damaging Het
Fcrl2 A C 3: 87,164,014 (GRCm39) S372A possibly damaging Het
Gadl1 C T 9: 115,773,297 (GRCm39) A113V probably damaging Het
Gda T A 19: 21,389,903 (GRCm39) E219D probably benign Het
Gli1 A T 10: 127,168,446 (GRCm39) M469K probably damaging Het
Gm4847 A T 1: 166,469,219 (GRCm39) S148R probably damaging Het
Golga2 T C 2: 32,192,216 (GRCm39) V325A probably benign Het
Hpf1 A G 8: 61,349,783 (GRCm39) D137G probably damaging Het
Htr2a C G 14: 74,943,293 (GRCm39) S291* probably null Het
Itga5 G A 15: 103,265,209 (GRCm39) Q233* probably null Het
Jazf1 C A 6: 52,789,168 (GRCm39) R102L probably damaging Het
Kif6 T G 17: 50,021,141 (GRCm39) L322R probably damaging Het
Ktn1 A C 14: 47,904,873 (GRCm39) K217T probably damaging Het
Lig4 A T 8: 10,023,012 (GRCm39) V256E possibly damaging Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp1 A T 10: 127,411,155 (GRCm39) D1399E probably benign Het
Mmel1 A G 4: 154,979,443 (GRCm39) E717G probably damaging Het
Mndal G T 1: 173,699,032 (GRCm39) P155H possibly damaging Het
Mycbpap A G 11: 94,402,449 (GRCm39) probably null Het
Nedd1 T C 10: 92,555,476 (GRCm39) E3G probably damaging Het
Nlgn1 A T 3: 25,490,073 (GRCm39) N551K probably damaging Het
Nup210 G A 6: 91,046,148 (GRCm39) P595L possibly damaging Het
Or2ag15 A G 7: 106,340,212 (GRCm39) C310R probably benign Het
Or2g25 A T 17: 37,970,661 (GRCm39) C188S probably damaging Het
Or4k52 A T 2: 111,610,693 (GRCm39) probably null Het
Or5ac17 T G 16: 59,036,347 (GRCm39) T210P probably damaging Het
Or5p56 A G 7: 107,589,740 (GRCm39) H56R probably benign Het
Pank3 G A 11: 35,672,508 (GRCm39) V304M probably benign Het
Phf3 G A 1: 30,844,729 (GRCm39) T1410I probably benign Het
Ppm1k A G 6: 57,502,142 (GRCm39) I7T possibly damaging Het
Ppp1r12c T C 7: 4,500,424 (GRCm39) D73G probably damaging Het
Prelid2 T G 18: 42,014,332 (GRCm39) M165L probably benign Het
Prkd3 A C 17: 79,260,125 (GRCm39) L826R probably damaging Het
Ptchd4 A T 17: 42,814,433 (GRCm39) N778I probably damaging Het
Ptprm T C 17: 67,000,866 (GRCm39) D1063G possibly damaging Het
Rab27a C A 9: 72,982,764 (GRCm39) T23N probably damaging Het
Rasgrf2 A T 13: 92,044,205 (GRCm39) F949L probably benign Het
Rbm33 A G 5: 28,542,002 (GRCm39) N68D probably damaging Het
Rgl1 A T 1: 152,462,284 (GRCm39) L109Q probably damaging Het
Rnf20 A G 4: 49,638,197 (GRCm39) N103S possibly damaging Het
Sbno1 G A 5: 124,530,675 (GRCm39) L875F probably damaging Het
Scube1 T A 15: 83,512,277 (GRCm39) probably null Het
Selenbp1 G A 3: 94,844,669 (GRCm39) V109M probably damaging Het
Serpina3c T A 12: 104,117,805 (GRCm39) I178F probably damaging Het
Shisa8 C T 15: 82,092,702 (GRCm39) G63D probably damaging Het
Snx14 T C 9: 88,284,277 (GRCm39) R464G possibly damaging Het
Snx25 A T 8: 46,577,119 (GRCm39) M1K probably null Het
Sorcs3 C A 19: 48,694,448 (GRCm39) T574K possibly damaging Het
Syne2 A G 12: 76,150,557 (GRCm39) E6528G probably damaging Het
Syt5 T C 7: 4,543,245 (GRCm39) E338G probably damaging Het
Tbk1 T C 10: 121,387,223 (GRCm39) K691E probably benign Het
Tenm3 G A 8: 48,848,611 (GRCm39) T11I probably damaging Het
Tlr4 T A 4: 66,757,933 (GRCm39) M242K possibly damaging Het
Tm4sf19 T C 16: 32,224,820 (GRCm39) M56T possibly damaging Het
Tmem212 T A 3: 27,940,620 (GRCm39) R66* probably null Het
Tmem39b G T 4: 129,578,275 (GRCm39) D315E probably benign Het
Tnxb T C 17: 34,937,612 (GRCm39) F3834L probably damaging Het
Trim36 A T 18: 46,319,250 (GRCm39) L225* probably null Het
Trim42 A T 9: 97,247,732 (GRCm39) H321Q probably damaging Het
Trio G T 15: 27,732,726 (GRCm39) Q3052K probably benign Het
Trpm3 T C 19: 22,955,698 (GRCm39) I1091T probably benign Het
Tst T C 15: 78,284,143 (GRCm39) E228G possibly damaging Het
Ttn T C 2: 76,702,060 (GRCm39) probably benign Het
Uap1 A C 1: 169,978,510 (GRCm39) probably null Het
Ush2a T C 1: 188,530,011 (GRCm39) S3267P possibly damaging Het
Usp5 T C 6: 124,802,129 (GRCm39) T38A probably benign Het
Uvssa A T 5: 33,545,152 (GRCm39) Q84L probably damaging Het
Vmn1r159 T G 7: 22,542,693 (GRCm39) H113P probably damaging Het
Vps13d A T 4: 144,824,742 (GRCm39) probably null Het
Zfp182 T A X: 20,897,799 (GRCm39) I166L probably benign Het
Zfp811 A T 17: 33,016,622 (GRCm39) Y472N probably damaging 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
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
R8739:Thrb UTSW 14 17,963,082 (GRCm38) missense probably benign 0.04
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'- AAGCGAAGTTCAACTCCTTAGAGCC -3'
(R):5'- TGTGGAGCAAACTCGTCTCCTCAG -3'

Sequencing Primer
(F):5'- CGATGTCTTCACCTGGGAAGTC -3'
(R):5'- CCACACTATTGCAAACTTCCATTTAG -3'
Posted On 2014-04-13