Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Thrb'

43309

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

038679-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R0479 (G1)

Quality Score

221

Status

Validated (trace)

Chromosome

Chromosomal Location

4431611-4809435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18033643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 469 (F469L)

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: F455L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022303
Gene: ENSMUSG00000021779
AA Change: F455L

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: F469L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022304
Gene: ENSMUSG00000021779
AA Change: F469L

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: F455L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089053
Gene: ENSMUSG00000021779
AA Change: F455L

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

Meta Mutation Damage Score

0.5179

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,159,712 (GRCm39)	V269A	probably benign	Het
Acsl1	G	A	8: 46,984,109 (GRCm39)	G543R	probably damaging	Het
Adam18	T	C	8: 25,141,838 (GRCm39)	N244D	probably benign	Het
Adgra3	C	T	5: 50,147,607 (GRCm39)	V478M	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Arhgef10	A	T	8: 15,041,070 (GRCm39)	E723V	probably damaging	Het
Arid3a	C	A	10: 79,787,128 (GRCm39)	N519K	possibly damaging	Het
Atrn	T	A	2: 130,841,085 (GRCm39)	Y1162*	probably null	Het
Cacng5	T	A	11: 107,768,777 (GRCm39)	N172Y	probably benign	Het
Cct8	C	T	16: 87,284,594 (GRCm39)	V198M	probably damaging	Het
Cep192	G	A	18: 67,991,089 (GRCm39)	S1857N	probably damaging	Het
Cherp	A	T	8: 73,216,991 (GRCm39)	D657E	possibly damaging	Het
Clca3a2	T	G	3: 144,796,610 (GRCm39)	D199A	probably damaging	Het
Cops7b	A	G	1: 86,532,798 (GRCm39)	T219A	probably benign	Het
Crb1	C	T	1: 139,126,352 (GRCm39)	M1392I	probably damaging	Het
Csf3r	A	C	4: 125,937,616 (GRCm39)	E833D	probably damaging	Het
Cutc	A	G	19: 43,756,655 (GRCm39)	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,451,449 (GRCm39)	L17P	probably damaging	Het
D5Ertd615e	T	A	5: 45,320,796 (GRCm39)		noncoding transcript	Het
Ddx60	G	T	8: 62,422,691 (GRCm39)	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,226,497 (GRCm39)	T268I	probably damaging	Het
Dgke	T	C	11: 88,943,296 (GRCm39)	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,746,513 (GRCm39)		probably benign	Het
Dll3	A	G	7: 28,000,974 (GRCm39)	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,556,861 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,176,861 (GRCm39)	F1461L	probably damaging	Het
Enpep	A	G	3: 129,106,323 (GRCm39)	V301A	possibly damaging	Het
Eny2	T	A	15: 44,299,000 (GRCm39)		probably null	Het
Esr1	A	G	10: 4,947,911 (GRCm39)	D488G	probably damaging	Het
Ets1	A	G	9: 32,641,476 (GRCm39)	K110E	probably damaging	Het
Eya2	T	A	2: 165,557,876 (GRCm39)	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,314,608 (GRCm39)	D223A	possibly damaging	Het
Fbh1	A	G	2: 11,763,230 (GRCm39)	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,208,419 (GRCm39)	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,306,740 (GRCm39)	V23A	probably damaging	Het
Foxp3	A	G	X: 7,453,583 (GRCm39)	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,522,867 (GRCm39)	F250S	probably damaging	Het
Gaa	A	G	11: 119,172,062 (GRCm39)	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,030,377 (GRCm39)	V816A	probably benign	Het
Glb1l3	T	A	9: 26,740,389 (GRCm39)	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,483,942 (GRCm39)	E101G	possibly damaging	Het
Hydin	A	C	8: 111,325,720 (GRCm39)	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627 (GRCm39)	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683 (GRCm39)	Y29C	probably damaging	Het
Ints7	T	A	1: 191,346,666 (GRCm39)		probably null	Het
Iqub	T	C	6: 24,505,809 (GRCm39)	E33G	probably benign	Het
Itgb1bp2	T	A	X: 100,492,806 (GRCm39)	C10S	probably damaging	Het
Katnip	T	C	7: 125,442,518 (GRCm39)	L809S	probably benign	Het
Kcnd1	T	A	X: 7,697,461 (GRCm39)	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,051,812 (GRCm39)	L135P	probably damaging	Het
Ksr1	T	C	11: 78,916,109 (GRCm39)	D574G	probably damaging	Het
Lama5	C	T	2: 179,826,250 (GRCm39)	R2331H	probably benign	Het
Larp1	C	A	11: 57,933,646 (GRCm39)	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,771,992 (GRCm39)		probably benign	Het
Lmbrd1	T	A	1: 24,785,878 (GRCm39)		probably benign	Het
Methig1	A	T	15: 100,272,825 (GRCm39)	K53*	probably null	Het
Mfap3	T	A	11: 57,420,469 (GRCm39)	I150N	probably damaging	Het
Mug1	A	T	6: 121,817,186 (GRCm39)	Q85L	probably benign	Het
Npl	A	G	1: 153,391,155 (GRCm39)	V200A	probably damaging	Het
Nuf2	A	T	1: 169,326,503 (GRCm39)		probably benign	Het
Obscn	A	G	11: 59,003,533 (GRCm39)	V1255A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5h18	C	T	16: 58,847,491 (GRCm39)	V260M	possibly damaging	Het
Or8b51	T	C	9: 38,569,478 (GRCm39)	D70G	probably damaging	Het
P2rx1	T	C	11: 72,903,787 (GRCm39)	V283A	probably damaging	Het
Pex2	C	A	3: 5,626,355 (GRCm39)	L151F	probably damaging	Het
Pias1	A	G	9: 62,800,400 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,257,105 (GRCm39)		probably benign	Het
Pogz	A	G	3: 94,783,947 (GRCm39)	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,553,309 (GRCm39)		probably null	Het
Prl	G	A	13: 27,248,911 (GRCm39)	D189N	probably damaging	Het
Prpf6	A	G	2: 181,292,920 (GRCm39)	N794S	probably benign	Het
Prr36	G	A	8: 4,263,930 (GRCm39)	Q579*	probably null	Het
Ptprq	A	T	10: 107,479,855 (GRCm39)	Y1138*	probably null	Het
Rabepk	A	T	2: 34,675,592 (GRCm39)	H179Q	probably damaging	Het
Rest	T	C	5: 77,430,598 (GRCm39)	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,441,175 (GRCm39)		probably benign	Het
Rnpepl1	T	C	1: 92,846,587 (GRCm39)		probably benign	Het
Ro60	A	T	1: 143,633,489 (GRCm39)	D536E	possibly damaging	Het
Sacs	T	A	14: 61,428,928 (GRCm39)	L329Q	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Setd5	A	T	6: 113,091,994 (GRCm39)	I272F	probably damaging	Het
Sgk1	G	T	10: 21,872,209 (GRCm39)	A262S	probably benign	Het
Skint2	G	A	4: 112,481,238 (GRCm39)	V34I	possibly damaging	Het
Skint5	G	C	4: 113,512,869 (GRCm39)	Q888E	unknown	Het
Slc4a3	T	C	1: 75,528,472 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,047,519 (GRCm39)	E133G	probably damaging	Het
Spryd3	G	A	15: 102,038,835 (GRCm39)	R129*	probably null	Het
Stag1	T	A	9: 100,810,144 (GRCm39)	N782K	probably benign	Het
Stam	T	C	2: 14,122,306 (GRCm39)	L132P	probably damaging	Het
Stard9	T	A	2: 120,528,077 (GRCm39)	S1445T	probably damaging	Het
Syt5	C	T	7: 4,546,108 (GRCm39)	R94Q	probably benign	Het
Tbc1d23	A	T	16: 56,992,177 (GRCm39)	H594Q	probably damaging	Het
Tecta	T	A	9: 42,249,235 (GRCm39)	I1871F	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Tyr	T	C	7: 87,142,429 (GRCm39)	S44G	possibly damaging	Het
Usp20	T	A	2: 30,907,487 (GRCm39)	V673E	probably benign	Het
Usp28	T	C	9: 48,948,513 (GRCm39)	S873P	probably damaging	Het
Usp43	C	T	11: 67,788,100 (GRCm39)	V306M	possibly damaging	Het
Wdr17	G	T	8: 55,104,456 (GRCm39)		probably null	Het
Wsb2	T	G	5: 117,514,744 (GRCm39)		probably benign	Het
Xkrx	A	T	X: 133,051,715 (GRCm39)	L312Q	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
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
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'- CAGTTTCCTGTTGGCCTTTGAACAC -3'
(R):5'- GCATTCACACCAAGGACTGGAGAAC -3'

Sequencing Primer
(F):5'- GCCTTTGAACACTATATCAATTACCG -3'
(R):5'- TGCAATGGTTACAAAGACCCAC -3'

Posted On

2013-05-23