Mutagenetix > Incidental Mutations

Incidental Mutation 'R1522:Thrb'

167554

Institutional Source

Beutler Lab

Gene Symbol

Thrb

Ensembl Gene

ENSMUSG00000021779

Gene Name

thyroid hormone receptor beta

Synonyms

c-erbAbeta, T3R[b], Nr1a2, T3Rbeta, Thrb1, TR beta, Thrb2

MMRRC Submission

040871-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17660261-18038090 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18002597 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 87 (H87R)

Ref Sequence

ENSEMBL: ENSMUSP00000153355 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022303
AA Change: H118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779
AA Change: H118R

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: H132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022304
Gene: ENSMUSG00000021779
AA Change: H132R

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: H118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779
AA Change: H118R

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

noncoding transcript
Transcript: ENSMUST00000224512

Predicted Effect

probably damaging
Transcript: ENSMUST00000224934
AA Change: H87R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225876

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890	T692P	probably damaging	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853	S291*	probably null	Het
Itga5	G	A	15: 103,356,782	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Mmel1	A	G	4: 154,894,986	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348		probably null	Het
Olfr199	T	G	16: 59,215,984	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Selenbp1	G	A	3: 94,937,358	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576	T11I	probably damaging	Het
Tlr4	T	A	4: 66,839,696	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183	L225*	probably null	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716		probably benign	Het
Uap1	A	C	1: 170,150,941		probably null	Het
Ush2a	T	C	1: 188,797,814	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,825,166	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172		probably null	Het
Zfp182	T	A	X: 21,031,560	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648	Y472N	probably damaging	Het

Other mutations in Thrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Thrb	APN	14	18011056	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCGAAGTTCAACTCCTTAGAGCC -3'
(R):5'- TGTGGAGCAAACTCGTCTCCTCAG -3'

Sequencing Primer
(F):5'- CGATGTCTTCACCTGGGAAGTC -3'
(R):5'- CCACACTATTGCAAACTTCCATTTAG -3'

Posted On

2014-04-13