Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Thra'

459966

Institutional Source

Beutler Lab

Gene Symbol

Thra

Ensembl Gene

ENSMUSG00000058756

Gene Name

thyroid hormone receptor alpha

Synonyms

Rvr, T3Ralpha, Nr1a1, Thra1, Erba, T3R[a], 6430529J03Rik, TR alpha 2, c-erbAalpha, Thra2, TR alpha 1

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98631539-98659832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98654514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 295 (V295I)

Ref Sequence

ENSEMBL: ENSMUSP00000099428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064187] [ENSMUST00000064941] [ENSMUST00000103139] [ENSMUST00000124072]

AlphaFold

P63058

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064187
AA Change: V295I

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068281
Gene: ENSMUSG00000058756
AA Change: V295I

Domain	Start	End	E-Value	Type
ZnF_C4	50	123	3.09e-36	SMART
HOLI	220	378	1.43e-31	SMART
low complexity region	461	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064941

SMART Domains

Protein: ENSMUSP00000069505
Gene: ENSMUSG00000020889

Domain	Start	End	E-Value	Type
low complexity region	14	34	N/A	INTRINSIC
low complexity region	70	94	N/A	INTRINSIC
ZnF_C4	130	202	5.54e-38	SMART
low complexity region	240	263	N/A	INTRINSIC
PDB:3N00\|A	282	361	2e-21	PDB
HOLI	442	600	4.2e-38	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103139
AA Change: V295I

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099428
Gene: ENSMUSG00000058756
AA Change: V295I

Domain	Start	End	E-Value	Type
ZnF_C4	50	123	3.09e-36	SMART
HOLI	220	378	7.26e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124072
AA Change: V295I

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115323
Gene: ENSMUSG00000058756
AA Change: V295I

Domain	Start	End	E-Value	Type
ZnF_C4	50	123	3.09e-36	SMART
HOLI	220	378	2.36e-32	SMART

Meta Mutation Damage Score

0.1576

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: The protein encoded by this gene is one of several nuclear hormone receptors that bind thyroid hormones such as triiodothyronine and thyroxine with high affinity. The encoded protein is a transcription factor that can activate or repress transcription. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations in this gene result in diverse phenotypes depending on the location and severity of the mutation. Observed phenotypes may include alterations in thyroid physiology, intestinal remodeling, cerebellum development, bone growth, cardiac function, thermogenesis, and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,644,745 (GRCm39)	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,484,597 (GRCm39)		probably null	Het
Arhgdib	A	T	6: 136,901,136 (GRCm39)	W198R	probably damaging	Het
Atad5	T	A	11: 80,018,111 (GRCm39)	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,513,619 (GRCm39)	K500*	probably null	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Cmip	A	T	8: 117,984,048 (GRCm39)	T70S	possibly damaging	Het
Col22a1	G	T	15: 71,878,815 (GRCm39)	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,093,531 (GRCm39)		probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,431,671 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,335,864 (GRCm39)	T2277S	probably benign	Het
Dysf	T	A	6: 84,184,194 (GRCm39)	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,147,440 (GRCm39)		probably benign	Het
Elp3	A	G	14: 65,819,626 (GRCm39)	Y111H	probably damaging	Het
Eps8l2	A	T	7: 140,936,259 (GRCm39)	Q243L	probably benign	Het
Eri2	C	A	7: 119,385,291 (GRCm39)	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,314,700 (GRCm39)	N614K	probably damaging	Het
Gm5108	T	G	5: 68,134,214 (GRCm39)	I74S	unknown	Het
Gpn1	T	C	5: 31,658,235 (GRCm39)	F130L	probably damaging	Het
Gpr176	T	A	2: 118,203,521 (GRCm39)	I50F	probably benign	Het
Gramd1a	A	G	7: 30,839,246 (GRCm39)	S221P	probably benign	Het
Hivep3	A	G	4: 119,954,305 (GRCm39)	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,856,383 (GRCm39)		noncoding transcript	Het
Itgb2	C	A	10: 77,381,868 (GRCm39)	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,819,988 (GRCm39)	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,799,388 (GRCm39)		probably benign	Het
Kif15	A	G	9: 122,846,326 (GRCm39)	S76G	probably benign	Het
Kpna3	C	T	14: 61,622,096 (GRCm39)	V223I	probably damaging	Het
Krt80	A	G	15: 101,262,089 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,948,808 (GRCm39)	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,882,766 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,921,348 (GRCm39)	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,203 (GRCm39)	N255K	possibly damaging	Het
Npat	A	T	9: 53,473,521 (GRCm39)	K438*	probably null	Het
Or4a73	T	A	2: 89,421,444 (GRCm39)	N5I	possibly damaging	Het
P4htm	T	C	9: 108,474,582 (GRCm39)	Y61C	probably damaging	Het
Pgap6	T	C	17: 26,340,972 (GRCm39)	Y692H	probably benign	Het
Polr3h	G	T	15: 81,801,480 (GRCm39)		probably null	Het
Prlr	C	T	15: 10,322,532 (GRCm39)	T176I	probably benign	Het
Psme4	T	G	11: 30,754,294 (GRCm39)	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 100,967,968 (GRCm39)	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792 (GRCm39)	E448G	probably damaging	Het
Rpf1	A	T	3: 146,225,218 (GRCm39)		probably null	Het
Sectm1b	T	C	11: 120,946,500 (GRCm39)	I132V	probably benign	Het
Sestd1	T	A	2: 77,017,503 (GRCm39)	H688L	probably benign	Het
Sidt2	T	C	9: 45,855,752 (GRCm39)	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,018,395 (GRCm39)	K938M	probably damaging	Het
Sin3b	C	A	8: 73,476,506 (GRCm39)	R647S	probably benign	Het
Slc16a14	T	C	1: 84,889,988 (GRCm39)	H439R	possibly damaging	Het
Stc1	T	C	14: 69,269,822 (GRCm39)	V134A	probably benign	Het
Stk11ip	G	A	1: 75,501,335 (GRCm39)	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Tnr	T	C	1: 159,740,336 (GRCm39)	M1170T	probably damaging	Het
Tpcn2	T	A	7: 144,832,521 (GRCm39)	I112F	probably damaging	Het
Trdv2-2	T	C	14: 54,198,998 (GRCm39)	L96P	probably damaging	Het
Trim24	T	A	6: 37,935,504 (GRCm39)	W832R	probably damaging	Het
Usp4	T	G	9: 108,268,959 (GRCm39)	S891A	probably benign	Het
Vmn1r88	A	T	7: 12,912,440 (GRCm39)	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,931,494 (GRCm39)	L60S	probably benign	Het
Wdr74	T	C	19: 8,717,197 (GRCm39)	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,218,653 (GRCm39)		probably benign	Het
Xpo1	A	T	11: 23,218,656 (GRCm39)		probably benign	Het
Zfp850	C	A	7: 27,689,620 (GRCm39)	G196V	probably benign	Het

Other mutations in Thra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Thra	APN	11	98,653,754 (GRCm39)	missense	possibly damaging	0.90
IGL01544:Thra	APN	11	98,647,754 (GRCm39)	missense	possibly damaging	0.46
IGL02377:Thra	APN	11	98,652,742 (GRCm39)	missense	probably damaging	1.00
IGL02738:Thra	APN	11	98,655,185 (GRCm39)	missense	probably benign	0.40
IGL03111:Thra	APN	11	98,651,855 (GRCm39)	unclassified	probably benign
California	UTSW	11	98,655,134 (GRCm39)	missense	probably damaging	0.97
Crissal	UTSW	11	98,653,777 (GRCm39)	missense	probably benign	0.20
R0033_Thra_272	UTSW	11	98,655,178 (GRCm39)	missense	probably benign	0.00
R0033:Thra	UTSW	11	98,655,178 (GRCm39)	missense	probably benign	0.00
R0033:Thra	UTSW	11	98,655,178 (GRCm39)	missense	probably benign	0.00
R0959:Thra	UTSW	11	98,644,455 (GRCm39)	missense	possibly damaging	0.94
R1659:Thra	UTSW	11	98,647,805 (GRCm39)	missense	probably damaging	0.99
R1839:Thra	UTSW	11	98,646,969 (GRCm39)	missense	probably benign	0.01
R1859:Thra	UTSW	11	98,646,977 (GRCm39)	missense	probably damaging	0.98
R1935:Thra	UTSW	11	98,653,899 (GRCm39)	splice site	probably benign
R1956:Thra	UTSW	11	98,654,567 (GRCm39)	missense	probably benign	0.03
R4584:Thra	UTSW	11	98,655,310 (GRCm39)	missense	probably benign	0.42
R4782:Thra	UTSW	11	98,646,990 (GRCm39)	missense	probably benign	0.01
R5414:Thra	UTSW	11	98,651,783 (GRCm39)	missense	probably benign	0.34
R5790:Thra	UTSW	11	98,653,777 (GRCm39)	missense	probably benign	0.20
R7207:Thra	UTSW	11	98,651,802 (GRCm39)	missense	probably damaging	1.00
R7234:Thra	UTSW	11	98,654,544 (GRCm39)	missense	probably damaging	1.00
R7307:Thra	UTSW	11	98,655,134 (GRCm39)	missense	probably damaging	0.97
R7825:Thra	UTSW	11	98,653,774 (GRCm39)	missense	probably benign	0.14
R7875:Thra	UTSW	11	98,659,257 (GRCm39)	missense	probably damaging	0.98
R8385:Thra	UTSW	11	98,659,177 (GRCm39)	missense	probably benign	0.40
R8669:Thra	UTSW	11	98,654,476 (GRCm39)	missense	possibly damaging	0.89
R8955:Thra	UTSW	11	98,644,449 (GRCm39)	missense	possibly damaging	0.92
R9549:Thra	UTSW	11	98,653,772 (GRCm39)	missense	probably benign	0.14
R9615:Thra	UTSW	11	98,651,715 (GRCm39)	missense	probably damaging	1.00
Z1177:Thra	UTSW	11	98,644,307 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTGCTCTGTGATCCTGC -3'
(R):5'- TCATAGAGAGTCAGCCTGGG -3'

Sequencing Primer
(F):5'- AGTGCTCTGTGATCCTGCTGTTC -3'
(R):5'- GGGTGAGACAGAACCTATGC -3'

Posted On

2017-02-28