Incidental Mutation 'IGL01302:Thrb'
ID73307
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thrb
Ensembl Gene ENSMUSG00000021779
Gene Namethyroid hormone receptor beta
Synonymsc-erbAbeta, T3R[b], Nr1a2, T3Rbeta, Thrb1, TR beta, Thrb2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.500) question?
Stock #IGL01302
Quality Score
Status
Chromosome14
Chromosomal Location17660261-18038090 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 18011056 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022303] [ENSMUST00000022304] [ENSMUST00000091471] [ENSMUST00000224934]
Predicted Effect probably benign
Transcript: ENSMUST00000022303
SMART Domains Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779

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: ENSMUST00000022304
SMART Domains Protein: ENSMUSP00000022304
Gene: ENSMUSG00000021779

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 benign
Transcript: ENSMUST00000091471
SMART Domains Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779

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 benign
Transcript: ENSMUST00000224934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225876
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,470 probably benign Het
Abcb5 T A 12: 118,918,200 D598V probably damaging Het
Adssl1 T C 12: 112,634,736 probably benign Het
Akap9 T A 5: 3,970,711 S1141T probably benign Het
Avil T C 10: 127,017,034 probably null Het
Avl9 C A 6: 56,725,090 H77N probably damaging Het
Cacna1e A G 1: 154,443,907 V1349A probably damaging Het
Cdc23 A C 18: 34,634,644 S483A probably benign Het
Cep192 C T 18: 67,858,903 P1951S probably benign Het
Cp A G 3: 19,966,367 T175A probably damaging Het
Dubr A C 16: 50,732,635 noncoding transcript Het
Eif4g2 G T 7: 111,074,713 Q695K possibly damaging Het
Endod1 A T 9: 14,357,239 S317T possibly damaging Het
Ep400 T C 5: 110,742,048 T450A probably benign Het
Erc1 A C 6: 119,722,303 V790G probably damaging Het
Fam222a T A 5: 114,594,453 L23Q possibly damaging Het
Fam35a C T 14: 34,259,727 V485I probably benign Het
Fancf A G 7: 51,861,287 V323A probably benign Het
Grik2 T A 10: 49,244,330 Q621L probably damaging Het
Gsk3b G T 16: 38,220,018 R319L probably benign Het
Ikzf1 A G 11: 11,768,923 Y297C probably damaging Het
Katnal2 T C 18: 77,047,167 probably benign Het
Lrba G T 3: 86,295,400 C289F probably damaging Het
Mos T C 4: 3,871,815 probably benign Het
Mycn T C 12: 12,937,586 D270G possibly damaging Het
Olfr672 A T 7: 104,996,721 M61K probably damaging Het
Olfr777 T A 10: 129,268,523 I267F probably benign Het
Pclo A G 5: 14,675,999 probably benign Het
Pgm2 A G 4: 99,929,606 D14G probably damaging Het
Pramel7 T A 2: 87,491,373 D106V possibly damaging Het
Prdm9 G T 17: 15,553,346 H263N probably benign Het
Psd4 T A 2: 24,396,787 probably null Het
Ptprc G A 1: 138,099,631 T493I possibly damaging Het
Rbbp8 T A 18: 11,721,979 S420R probably benign Het
Sap30bp A G 11: 115,962,547 T219A probably damaging Het
Slc2a7 T A 4: 150,157,564 L200Q probably damaging Het
Slc38a6 T A 12: 73,288,525 probably null Het
Tatdn2 T A 6: 113,704,024 probably benign Het
Timp4 T C 6: 115,246,308 Y218C possibly damaging Het
Tlr5 A G 1: 182,974,748 D525G probably benign Het
Usp32 G T 11: 84,988,482 T1467N probably benign Het
Vmn2r78 A G 7: 86,915,361 I5V unknown Het
Zbtb43 T C 2: 33,454,091 H374R probably benign Het
Zfhx4 C A 3: 5,243,568 T618K probably damaging Het
Other mutations in Thrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02488:Thrb APN 14 18033455 missense probably damaging 0.98
IGL02598:Thrb APN 14 18008606 missense possibly damaging 0.95
IGL02707:Thrb APN 14 18026721 missense probably benign 0.42
harry UTSW 14 18011145 nonsense probably null
R0479:Thrb UTSW 14 18033643 missense probably damaging 0.99
R0988:Thrb UTSW 14 17981837 intron probably benign
R1257:Thrb UTSW 14 18008642 missense probably damaging 1.00
R1522:Thrb UTSW 14 18002597 missense probably damaging 1.00
R1927:Thrb UTSW 14 18008674 missense probably damaging 1.00
R2100:Thrb UTSW 14 18030393 missense possibly damaging 0.73
R2134:Thrb UTSW 14 18033487 missense probably benign 0.22
R3551:Thrb UTSW 14 17963214 missense probably damaging 0.99
R3888:Thrb UTSW 14 18033551 missense probably damaging 1.00
R3975:Thrb UTSW 14 18033456 missense probably damaging 1.00
R4294:Thrb UTSW 14 18011145 nonsense probably null
R4371:Thrb UTSW 14 18030275 missense probably damaging 1.00
R4454:Thrb UTSW 14 18011187 missense probably damaging 0.97
R4457:Thrb UTSW 14 18011187 missense probably damaging 0.97
R4486:Thrb UTSW 14 17925640 start codon destroyed probably null 0.72
R4961:Thrb UTSW 14 18011076 missense probably benign 0.39
R5184:Thrb UTSW 14 18011181 nonsense probably null
R5609:Thrb UTSW 14 18033526 missense probably benign 0.22
R6023:Thrb UTSW 14 18011209 missense probably damaging 0.98
R6891:Thrb UTSW 14 17981899 missense probably benign
R7288:Thrb UTSW 14 18030186 missense probably damaging 1.00
R7294:Thrb UTSW 14 17826963 start gained probably benign
R7780:Thrb UTSW 14 18008608 missense possibly damaging 0.73
R8098:Thrb UTSW 14 18008645 missense probably damaging 1.00
Z1177:Thrb UTSW 14 18033433 missense probably damaging 1.00
Posted On2013-10-07