Mutagenetix > Incidental Mutation

Incidental Mutation 'R9314:Thrb'

705805

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R9314 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4431611-4809435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17963208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 57 (H57R)

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: H57R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779
AA Change: H57R

Domain	Start	End	E-Value	Type
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: H57R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779
AA Change: H57R

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably benign
Transcript: ENSMUST00000224597
AA Change: H57R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224934
AA Change: H26R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,547,593 (GRCm39)	N260K	possibly damaging	Het
Anapc1	G	A	2: 128,464,420 (GRCm39)	S1692L	possibly damaging	Het
Brca2	A	G	5: 150,474,359 (GRCm39)	R2421G	probably damaging	Het
Cad	A	G	5: 31,234,988 (GRCm39)	Y2143C	probably damaging	Het
Calr3	T	A	8: 73,178,535 (GRCm39)	D356V	possibly damaging	Het
Cd207	T	A	6: 83,652,699 (GRCm39)	T144S	probably damaging	Het
Cntln	T	C	4: 84,924,719 (GRCm39)	L608P	probably damaging	Het
Dnah8	A	T	17: 30,990,857 (GRCm39)	Y3300F	probably benign	Het
Emb	T	C	13: 117,408,604 (GRCm39)	I315T	probably damaging	Het
Esr1	T	A	10: 4,916,181 (GRCm39)	V456E	possibly damaging	Het
Evpl	A	T	11: 116,118,503 (GRCm39)	H701Q	probably benign	Het
F5	C	T	1: 164,029,146 (GRCm39)	T1715I	probably benign	Het
Fut10	T	A	8: 31,691,504 (GRCm39)	H116Q	probably damaging	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,447 (GRCm39)		probably benign	Het
Gm5591	T	C	7: 38,221,884 (GRCm39)	T62A	probably benign	Het
Hectd4	T	C	5: 121,437,708 (GRCm39)		probably null	Het
Ifit1bl1	G	C	19: 34,576,693 (GRCm39)	Q3E	probably benign	Het
Ighg3	A	T	12: 113,323,946 (GRCm39)	D147E		Het
Ighv8-13	A	G	12: 115,728,996 (GRCm39)	V87A	possibly damaging	Het
Kdelr1	A	G	7: 45,531,050 (GRCm39)	T160A	probably benign	Het
Kdm2a	A	G	19: 4,372,510 (GRCm39)	L945P	probably damaging	Het
Krt36	C	T	11: 99,994,227 (GRCm39)	W283*	probably null	Het
Lamp3	T	C	16: 19,492,192 (GRCm39)	M351V	probably benign	Het
Lox	C	G	18: 52,653,911 (GRCm39)	R395P	probably damaging	Het
Lrrtm3	T	C	10: 63,925,499 (GRCm39)		probably benign	Het
Madcam1	C	A	10: 79,501,481 (GRCm39)	T182K	probably damaging	Het
Megf8	T	A	7: 25,029,297 (GRCm39)	H280Q	probably damaging	Het
Mrgprb5	A	G	7: 47,818,174 (GRCm39)	I187T	probably benign	Het
Muc1	T	C	3: 89,138,825 (GRCm39)	V478A	probably damaging	Het
Mug1	T	G	6: 121,834,296 (GRCm39)	V359G	probably damaging	Het
Myh4	A	G	11: 67,151,141 (GRCm39)	H1932R	probably benign	Het
Naaladl1	A	C	19: 6,162,401 (GRCm39)	N448H	probably damaging	Het
Or52b1	A	T	7: 104,979,081 (GRCm39)	I106N	probably damaging	Het
Or5a1	C	T	19: 12,097,144 (GRCm39)	E311K	probably benign	Het
Pkd1l1	A	T	11: 8,829,153 (GRCm39)	Y1480N		Het
Poll	T	C	19: 45,547,091 (GRCm39)	E127G	probably benign	Het
Ppl	T	C	16: 4,922,367 (GRCm39)	N305S	possibly damaging	Het
Prss53	A	G	7: 127,490,039 (GRCm39)	V17A	probably benign	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef4	A	T	2: 72,064,983 (GRCm39)	H804L	possibly damaging	Het
Rassf8	A	G	6: 145,762,296 (GRCm39)	T356A	probably damaging	Het
Rptor	T	C	11: 119,786,772 (GRCm39)	S1246P	probably benign	Het
Setdb2	A	T	14: 59,650,240 (GRCm39)	I458N	probably benign	Het
Sgtb	A	G	13: 104,254,933 (GRCm39)	K68E	possibly damaging	Het
Slc19a3	T	G	1: 83,000,094 (GRCm39)	I308L	possibly damaging	Het
Slc22a5	T	C	11: 53,762,487 (GRCm39)	D320G	possibly damaging	Het
Slc34a2	T	C	5: 53,218,143 (GRCm39)	S141P	possibly damaging	Het
Slc37a2	T	C	9: 37,150,482 (GRCm39)	T158A	possibly damaging	Het
Slc7a1	T	C	5: 148,269,327 (GRCm39)	I598V	probably benign	Het
Sphk2	T	C	7: 45,361,158 (GRCm39)	D282G	probably damaging	Het
Spty2d1	G	T	7: 46,648,486 (GRCm39)	P148T	probably damaging	Het
Supt3	A	G	17: 45,352,250 (GRCm39)	T310A	probably benign	Het
Supt5	T	A	7: 28,019,799 (GRCm39)	D457V	probably damaging	Het
Svep1	C	T	4: 58,070,347 (GRCm39)	G2480R	probably damaging	Het
Tbcd	T	C	11: 121,487,297 (GRCm39)	V803A	probably benign	Het
Tex2	A	T	11: 106,435,075 (GRCm39)	C784S	unknown	Het
Tmc4	T	C	7: 3,679,723 (GRCm39)	T34A	possibly damaging	Het
Tmprss2	T	C	16: 97,400,459 (GRCm39)	N4S	probably benign	Het
Trank1	A	G	9: 111,195,049 (GRCm39)	I1024M	probably damaging	Het
Trnau1ap	C	A	4: 132,056,697 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,566,710 (GRCm39)	V28061A	probably damaging	Het
Txnl4b	C	A	8: 110,299,331 (GRCm39)	P97Q	probably benign	Het
Ube4a	T	C	9: 44,854,023 (GRCm39)	T573A	probably benign	Het
Vit	A	T	17: 78,927,044 (GRCm39)	T330S	probably benign	Het
Wdr3	T	C	3: 100,050,288 (GRCm39)	I750V	probably benign	Het
Zfp59	C	T	7: 27,554,029 (GRCm39)	L494F	possibly damaging	Het

Other mutations in Thrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
Z1177:Thrb	UTSW	14	18,033,433 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTTGGCAATACCTACAATCTG -3'
(R):5'- GCACAGACACTAGGCAGGTG -3'

Sequencing Primer
(F):5'- GGCAATACCTACAATCTGTTATCTTG -3'
(R):5'- CAGACACTAGGCAGGTGAAGAAATG -3'

Posted On

2022-03-25