Mutagenetix > Incidental Mutation

Incidental Mutation 'R7288:Thrb'

566188

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

045395-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R7288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4431611-4809435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18030186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 324 (M324K)

Ref Sequence

ENSEMBL: ENSMUSP00000022304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022303] [ENSMUST00000022304] [ENSMUST00000091471]

AlphaFold

P37242

Predicted Effect

probably damaging
Transcript: ENSMUST00000022303
AA Change: M310K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779
AA Change: M310K

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 damaging
Transcript: ENSMUST00000022304
AA Change: M324K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022304
Gene: ENSMUSG00000021779
AA Change: M324K

Domain	Start	End	E-Value	Type
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: M310K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779
AA Change: M310K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,131 (GRCm39)	D204E	probably benign	Het
Adh1	T	G	3: 137,988,493 (GRCm39)	D155E	probably benign	Het
Akt1s1	T	C	7: 44,498,571 (GRCm39)	L2P	unknown	Het
Ash1l	T	A	3: 88,873,199 (GRCm39)		probably benign	Het
Bend7	C	T	2: 4,757,641 (GRCm39)	P228S	probably damaging	Het
Bpifc	T	C	10: 85,824,585 (GRCm39)	E218G	possibly damaging	Het
Cdk6	T	A	5: 3,479,001 (GRCm39)	F127Y	probably benign	Het
Cgnl1	A	T	9: 71,632,846 (GRCm39)	H168Q	possibly damaging	Het
Chd7	C	T	4: 8,847,093 (GRCm39)	T1612I	possibly damaging	Het
Col4a4	A	T	1: 82,470,184 (GRCm39)	C782S	unknown	Het
Copg2	T	A	6: 30,801,341 (GRCm39)	I364L	probably damaging	Het
Crygb	A	G	1: 65,121,084 (GRCm39)	L81P	probably benign	Het
Cyp4f18	A	T	8: 72,747,017 (GRCm39)	M326K	probably damaging	Het
Dhx34	A	G	7: 15,949,361 (GRCm39)	S356P	probably benign	Het
Dmbt1	C	T	7: 130,685,519 (GRCm39)	Q855*	probably null	Het
Dnai3	T	C	3: 145,787,007 (GRCm39)	T343A	probably damaging	Het
Dnph1	A	G	17: 46,809,938 (GRCm39)	N160S	probably benign	Het
Esrra	A	T	19: 6,890,139 (GRCm39)	C228*	probably null	Het
Evpl	T	C	11: 116,114,775 (GRCm39)	N972D	probably benign	Het
Fat3	T	C	9: 15,909,888 (GRCm39)	D2038G	probably damaging	Het
Fhit	T	A	14: 9,763,784 (GRCm38)	R102W	probably damaging	Het
Gal3st1	A	T	11: 3,948,609 (GRCm39)	D272V	probably damaging	Het
Gal3st1	T	A	11: 3,948,651 (GRCm39)	V286D	probably damaging	Het
Gemin4	A	T	11: 76,104,206 (GRCm39)	M185K	possibly damaging	Het
Hecw1	T	C	13: 14,490,821 (GRCm39)	I311V	probably benign	Het
Ift172	T	C	5: 31,442,630 (GRCm39)	Y179C	probably damaging	Het
Ighv7-3	C	T	12: 114,116,963 (GRCm39)	W66*	probably null	Het
Iqgap3	T	A	3: 88,016,142 (GRCm39)	I975N	probably damaging	Het
Khdrbs3	A	G	15: 68,921,262 (GRCm39)	E281G	possibly damaging	Het
Lamb2	A	T	9: 108,365,523 (GRCm39)	T1369S	probably benign	Het
Mettl8	A	T	2: 70,812,382 (GRCm39)	D84E	probably benign	Het
Mrgprb3	C	A	7: 48,293,059 (GRCm39)	C164F	probably damaging	Het
Mtg2	A	G	2: 179,725,180 (GRCm39)	Y131C	probably damaging	Het
Nacc1	C	T	8: 85,403,174 (GRCm39)	A234T	probably benign	Het
Nsmaf	C	T	4: 6,416,641 (GRCm39)	V551I	probably benign	Het
Or13a26	T	A	7: 140,284,942 (GRCm39)	C259*	probably null	Het
Or7e175	T	A	9: 20,048,737 (GRCm39)	Y108*	probably null	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Pcdhb12	T	A	18: 37,569,068 (GRCm39)	D71E	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pkm	A	G	9: 59,576,196 (GRCm39)	S127G	probably benign	Het
Plxna2	T	A	1: 194,479,227 (GRCm39)	L1296H	probably damaging	Het
Ppil6	C	G	10: 41,374,524 (GRCm39)	T135R	probably benign	Het
Ppp2r3d	T	C	9: 101,004,203 (GRCm39)	Y378C	probably damaging	Het
Rabep2	C	T	7: 126,043,377 (GRCm39)	R426C	probably damaging	Het
Rad21	A	T	15: 51,845,976 (GRCm39)	H31Q	possibly damaging	Het
Rad50	G	T	11: 53,545,776 (GRCm39)	Y1182*	probably null	Het
Serpinb9c	C	T	13: 33,335,883 (GRCm39)	A218T	possibly damaging	Het
Slc34a1	C	A	13: 24,003,095 (GRCm39)	H248Q	probably benign	Het
Slc45a4	C	A	15: 73,458,785 (GRCm39)	E255*	probably null	Het
Slc8a3	T	A	12: 81,263,598 (GRCm39)	K596N	possibly damaging	Het
Tbc1d32	A	C	10: 55,927,483 (GRCm39)		probably null	Het
Tbl2	T	A	5: 135,183,253 (GRCm39)	I112N	possibly damaging	Het
Tchp	A	C	5: 114,853,630 (GRCm39)	K238T	probably damaging	Het
Tfap2d	G	A	1: 19,189,207 (GRCm39)	G251D	probably damaging	Het
Tmem259	A	T	10: 79,814,300 (GRCm39)	L328Q	probably damaging	Het
Tmtc2	T	C	10: 105,249,469 (GRCm39)	H88R	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,709 (GRCm39)	H107R	possibly damaging	Het
Trib1	T	C	15: 59,526,471 (GRCm39)	V347A	probably benign	Het
Ung	T	A	5: 114,269,315 (GRCm39)	L9*	probably null	Het
Vmn1r195	G	T	13: 22,463,174 (GRCm39)	V215F	probably damaging	Het
Wdr90	A	G	17: 26,065,286 (GRCm39)	S1657P	probably benign	Het
Wdsub1	A	T	2: 59,708,487 (GRCm39)	Y129N	possibly damaging	Het
Zfp369	T	G	13: 65,432,832 (GRCm39)		probably null	Het
Zfp770	G	T	2: 114,026,142 (GRCm39)	C642*	probably null	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	Het
Zhx3	A	C	2: 160,623,042 (GRCm39)	V375G	probably 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
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'- GTCCCTCCAGGTAGAGAATGAG -3'
(R):5'- ACCTGAAGACATTAGCAGGAC -3'

Sequencing Primer
(F):5'- CCCTCCAGGTAGAGAATGAGAGTAAG -3'
(R):5'- GACTTCAGTGTCATCCAGGTTGAAAG -3'

Posted On

2019-06-26