Mutagenetix > Incidental Mutation

Incidental Mutation 'R8978:Thrb'

683592

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

068811-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R8978 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4431611-4809435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17981886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 4 (C4R)

Ref Sequence

ENSEMBL: ENSMUSP00000022304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022303] [ENSMUST00000022304] [ENSMUST00000091471] [ENSMUST00000224934]

AlphaFold

P37242

Predicted Effect

probably benign
Transcript: ENSMUST00000022303

SMART Domains

Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779

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

possibly damaging
Transcript: ENSMUST00000022304
AA Change: C4R

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022304
Gene: ENSMUSG00000021779
AA Change: C4R

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 benign
Transcript: ENSMUST00000091471

SMART Domains

Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779

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: ENSMUST00000224934

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

99% (66/67)

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
Abcg4	A	G	9: 44,192,395 (GRCm39)	F224L	probably benign	Het
Adam39	A	G	8: 41,278,707 (GRCm39)	D366G	probably damaging	Het
Adamts14	T	A	10: 61,038,795 (GRCm39)	E902V	probably damaging	Het
Adamts6	T	C	13: 104,512,247 (GRCm39)	C490R	probably damaging	Het
Btbd3	T	C	2: 138,126,055 (GRCm39)	V413A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,813,197 (GRCm39)	N403K	probably damaging	Het
Cdc27	C	T	11: 104,399,211 (GRCm39)	V734I	possibly damaging	Het
Celf3	A	G	3: 94,392,667 (GRCm39)	D122G	probably benign	Het
Chgb	T	C	2: 132,634,498 (GRCm39)	S147P	probably benign	Het
Col9a1	G	A	1: 24,278,396 (GRCm39)	G808D	probably damaging	Het
Cpne7	A	G	8: 123,861,177 (GRCm39)		probably null	Het
Crhr1	T	C	11: 104,064,480 (GRCm39)	F330S	possibly damaging	Het
Csmd1	A	C	8: 15,971,056 (GRCm39)	N3086K	probably benign	Het
Ctnnb1	A	G	9: 120,786,650 (GRCm39)	D624G	probably damaging	Het
Dcaf8	G	A	1: 172,022,124 (GRCm39)	R554H	probably benign	Het
Dmbt1	T	C	7: 130,639,611 (GRCm39)	Y50H	possibly damaging	Het
Dmxl1	T	C	18: 50,055,679 (GRCm39)	L2573P	probably benign	Het
Ebf2	G	A	14: 67,661,548 (GRCm39)	G559S	probably benign	Het
Fancd2	A	G	6: 113,562,507 (GRCm39)		probably benign	Het
Fkbp10	A	T	11: 100,313,936 (GRCm39)	I427F	probably benign	Het
Gipc1	T	C	8: 84,389,046 (GRCm39)		probably null	Het
Gm1110	A	T	9: 26,807,095 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,731,455 (GRCm39)	L359P	probably damaging	Het
Hspg2	A	G	4: 137,291,341 (GRCm39)	D3897G	probably benign	Het
Ift122	T	A	6: 115,902,769 (GRCm39)	M1117K	possibly damaging	Het
Itgbl1	A	T	14: 124,209,617 (GRCm39)	D456V	probably damaging	Het
Itprid2	T	A	2: 79,491,257 (GRCm39)	L1014Q	probably damaging	Het
Kctd1	G	T	18: 15,119,491 (GRCm39)	L675I		Het
Kyat3	C	T	3: 142,443,596 (GRCm39)	T403M	probably benign	Het
Ltbp2	T	C	12: 84,834,164 (GRCm39)	T1442A	probably benign	Het
Mier2	A	C	10: 79,376,790 (GRCm39)	S45R	unknown	Het
Mon2	T	A	10: 122,871,469 (GRCm39)	K383*	probably null	Het
Mroh4	G	T	15: 74,499,473 (GRCm39)	T136K	probably benign	Het
Mtif3	A	T	5: 146,895,846 (GRCm39)	S80R	probably benign	Het
Myh2	A	C	11: 67,068,188 (GRCm39)	E272A	probably damaging	Het
Myh2	A	G	11: 67,080,323 (GRCm39)	Q1179R	probably damaging	Het
Nfatc3	G	A	8: 106,835,402 (GRCm39)	C916Y	probably benign	Het
Or13a17	A	T	7: 140,271,642 (GRCm39)	T275S	probably benign	Het
Or2w2	T	A	13: 21,758,279 (GRCm39)	T116S	probably benign	Het
Or7g21	T	A	9: 19,032,582 (GRCm39)	C107*	probably null	Het
Orc2	T	C	1: 58,511,499 (GRCm39)	D370G	possibly damaging	Het
Pate7	A	T	9: 35,688,069 (GRCm39)		probably benign	Het
Pcdhga6	T	A	18: 37,840,716 (GRCm39)	N145K	probably benign	Het
Pih1d2	A	G	9: 50,536,232 (GRCm39)	M296V	probably benign	Het
Prickle4	A	T	17: 47,999,772 (GRCm39)		probably benign	Het
Rabl6	G	A	2: 25,477,541 (GRCm39)	P303L	probably damaging	Het
Rara	T	G	11: 98,862,595 (GRCm39)	I332S	probably damaging	Het
Reln	A	G	5: 22,090,512 (GRCm39)	F3449L	possibly damaging	Het
Rhoq	T	C	17: 87,271,767 (GRCm39)	L61P		Het
Rigi	A	G	4: 40,239,650 (GRCm39)	I16T	probably damaging	Het
Slc6a15	G	A	10: 103,230,953 (GRCm39)	W226*	probably null	Het
Spef2	A	T	15: 9,725,263 (GRCm39)	S165T	possibly damaging	Het
Stab2	T	C	10: 86,785,782 (GRCm39)	N620S	possibly damaging	Het
Suds3	A	G	5: 117,232,973 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,682,900 (GRCm39)	I15T	possibly damaging	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tgfbi	C	A	13: 56,778,391 (GRCm39)	D387E	probably benign	Het
Tk2	A	G	8: 104,957,809 (GRCm39)	V179A	possibly damaging	Het
Trim25	T	C	11: 88,907,027 (GRCm39)	V462A	probably benign	Het
Tub	T	C	7: 108,629,393 (GRCm39)	Y483H	probably damaging	Het
Vav1	A	G	17: 57,603,710 (GRCm39)	T131A	probably benign	Het
Vav1	A	G	17: 57,631,650 (GRCm39)	T781A	probably benign	Het
Zbtb34	A	G	2: 33,301,048 (GRCm39)	S498P	possibly damaging	Het
Zfp568	T	A	7: 29,716,683 (GRCm39)	H194Q	probably benign	Het
Zfp683	A	T	4: 133,781,239 (GRCm39)	Q18L	probably benign	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
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'- ACATCAGGTGCTACTCTGAAG -3'
(R):5'- ACAGGTTTCCAGGGTAACTACAG -3'

Sequencing Primer
(F):5'- CATCAGGTGCTACTCTGAAGTGAGG -3'
(R):5'- CAGGTATAAGGCTGATTCACTGC -3'

Posted On

2021-10-11