Mutagenetix > Incidental Mutation

Incidental Mutation 'R7780:Thrb'

599187

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

045836-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R7780 (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 18008608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 156 (S156P)

Ref Sequence

ENSEMBL: ENSMUSP00000022304 (fasta)

Gene Model

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

AlphaFold

P37242

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022303
AA Change: S142P

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779
AA Change: S142P

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: S156P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022304
Gene: ENSMUSG00000021779
AA Change: S156P

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

possibly damaging
Transcript: ENSMUST00000091471
AA Change: S142P

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779
AA Change: S142P

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: ENSMUST00000224934
AA Change: S111P

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	C	T	8: 25,294,432 (GRCm39)	R389K	possibly damaging	Het
Ahnak2	C	T	12: 112,746,716 (GRCm39)	V1205M		Het
Ccr3	A	G	9: 123,828,989 (GRCm39)	Y108C	probably benign	Het
Cers5	T	G	15: 99,637,589 (GRCm39)	H220P	probably damaging	Het
Cfap61	A	T	2: 145,995,692 (GRCm39)	N1086Y	possibly damaging	Het
Cip2a	T	A	16: 48,822,023 (GRCm39)	L217*	probably null	Het
Clstn3	T	C	6: 124,439,161 (GRCm39)	E32G	probably damaging	Het
Cox20	T	C	1: 178,149,566 (GRCm39)	C72R	probably benign	Het
Csf1	A	T	3: 107,657,709 (GRCm39)	N154K	probably damaging	Het
Cyp2j7	T	A	4: 96,118,256 (GRCm39)	K112N	probably benign	Het
Drosha	A	G	15: 12,848,172 (GRCm39)	D488G	probably benign	Het
Edem1	A	G	6: 108,818,589 (GRCm39)	K199R	probably benign	Het
Esyt2	T	C	12: 116,305,718 (GRCm39)	I316T	probably benign	Het
Evpl	C	T	11: 116,125,000 (GRCm39)	R154H	not run	Het
Fbn1	A	G	2: 125,143,678 (GRCm39)	L2817P	probably benign	Het
Fbxo42	T	A	4: 140,921,131 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,162,358 (GRCm39)	D283G	probably damaging	Het
Fdxr	A	T	11: 115,167,656 (GRCm39)	S20T	probably benign	Het
Fkbp10	T	C	11: 100,312,048 (GRCm39)	Y203H	probably damaging	Het
Galntl6	C	T	8: 58,880,733 (GRCm39)		probably null	Het
Gask1b	G	A	3: 79,848,711 (GRCm39)	G486S	probably damaging	Het
Gm26657	C	A	4: 56,741,056 (GRCm39)	Y80*	probably null	Het
Gm973	T	A	1: 59,597,289 (GRCm39)	W440R	probably damaging	Het
Helz	T	A	11: 107,528,689 (GRCm39)	F903Y	probably damaging	Het
Iqcf4	T	A	9: 106,445,860 (GRCm39)	I96F	possibly damaging	Het
Kcnq5	T	A	1: 22,031,555 (GRCm39)	Q84L	probably benign	Het
Krit1	G	A	5: 3,862,772 (GRCm39)	G254S	probably damaging	Het
Krtap6-2	A	T	16: 89,216,510 (GRCm39)	Y152*	probably null	Het
Loricrin	A	T	3: 91,988,460 (GRCm39)	Y275*	probably null	Het
Map4	T	C	9: 109,863,720 (GRCm39)	I315T	probably benign	Het
Mcpt1	T	A	14: 56,256,609 (GRCm39)		probably null	Het
Mdh1b	C	A	1: 63,759,133 (GRCm39)	S153I	possibly damaging	Het
Mfsd12	C	A	10: 81,193,718 (GRCm39)	A96E	probably benign	Het
Mki67	T	C	7: 135,315,697 (GRCm39)	E55G	probably benign	Het
Mterf4	T	C	1: 93,232,689 (GRCm39)	E54G	probably benign	Het
Mucl3	A	G	17: 35,947,874 (GRCm39)	S452P	possibly damaging	Het
Nuggc	T	A	14: 65,882,490 (GRCm39)	I745N	probably damaging	Het
Or6k6	T	C	1: 173,945,115 (GRCm39)	I156V	probably benign	Het
Or7g18	A	G	9: 18,786,910 (GRCm39)	T93A	possibly damaging	Het
Parg	A	T	14: 31,930,758 (GRCm39)	N126I	possibly damaging	Het
Pcdh9	T	C	14: 94,123,987 (GRCm39)	I728V	possibly damaging	Het
Pcdha1	C	G	18: 37,065,511 (GRCm39)	P725R	probably benign	Het
Pcdha11	T	A	18: 37,145,849 (GRCm39)	L647M	probably damaging	Het
Phb2	T	C	6: 124,692,995 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,483,610 (GRCm39)		probably null	Het
Pmch	T	A	10: 87,927,113 (GRCm39)	F39I	probably benign	Het
Psmd7	A	T	8: 108,307,920 (GRCm39)	S188T	possibly damaging	Het
Pycr2	T	A	1: 180,733,913 (GRCm39)	D168E	probably damaging	Het
Rab43	A	G	6: 87,771,692 (GRCm39)	Y96H	probably damaging	Het
Ralgapa2	C	T	2: 146,184,334 (GRCm39)	G1511S	probably benign	Het
Rb1cc1	T	A	1: 6,319,138 (GRCm39)	C852*	probably null	Het
Rexo2	T	C	9: 48,380,145 (GRCm39)	N229S	probably damaging	Het
Sema4f	A	G	6: 82,890,941 (GRCm39)	V622A	possibly damaging	Het
Serpina10	T	C	12: 103,594,806 (GRCm39)	S138G	probably benign	Het
Sptbn4	T	A	7: 27,061,059 (GRCm39)	T2415S	possibly damaging	Het
Tbc1d22b	A	G	17: 29,792,040 (GRCm39)	N257D	probably benign	Het
Tbl3	A	G	17: 24,921,205 (GRCm39)	F529L	probably damaging	Het
Them6	A	T	15: 74,593,427 (GRCm39)	N95I	probably benign	Het
Tmem186	G	A	16: 8,453,731 (GRCm39)	R177C	probably benign	Het
Ttn	T	A	2: 76,660,937 (GRCm39)		probably null	Het
Unc13a	T	A	8: 72,110,979 (GRCm39)	I411F	probably benign	Het
Uqcc1	T	C	2: 155,752,073 (GRCm39)		probably null	Het
Vmn1r56	T	C	7: 5,199,516 (GRCm39)	T34A	possibly damaging	Het
Vps39	A	T	2: 120,155,680 (GRCm39)	Y542*	probably null	Het
Wdr64	T	C	1: 175,556,542 (GRCm39)	L263P	probably damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Wfdc16	A	G	2: 164,477,785 (GRCm39)	M88T	probably benign	Het
Wnk4	A	G	11: 101,160,403 (GRCm39)	D679G	probably damaging	Het
Ykt6	T	C	11: 5,912,751 (GRCm39)	I151T	probably benign	Het
Zbtb46	A	G	2: 181,033,225 (GRCm39)	C479R	probably damaging	Het
Zc3h7a	A	G	16: 10,967,115 (GRCm39)	I559T	probably benign	Het
Zfhx3	A	G	8: 109,678,283 (GRCm39)	N3111S	possibly damaging	Het
Zfp619	T	C	7: 39,184,432 (GRCm39)	V154A	possibly damaging	Het
Zfp629	A	T	7: 127,211,601 (GRCm39)	D69E	probably benign	Het
Zfp882	T	A	8: 72,668,073 (GRCm39)	I300N	possibly damaging	Het
Zfp934	T	C	13: 62,666,358 (GRCm39)	H106R	possibly damaging	Het
Zfta	T	C	19: 7,399,737 (GRCm39)	S495P	probably damaging	Het
Zfyve9	G	A	4: 108,576,298 (GRCm39)	T261I	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
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'- ACCACCATCCTCCATTTGAG -3'
(R):5'- AGAGCCAGATTCTATCCACAAGG -3'

Sequencing Primer
(F):5'- CTCCATTTGAGGGTATAAAGTAGGAG -3'
(R):5'- TTGTTGATCTTGAACCAAAACCTCTC -3'

Posted On

2019-11-26