Mutagenetix > Incidental Mutation

Incidental Mutation 'R4008:Tshr'

311574

Institutional Source

Beutler Lab

Gene Symbol

Tshr

Ensembl Gene

ENSMUSG00000020963

Gene Name

thyroid stimulating hormone receptor

Synonyms

hypothroid, pet, hyt

MMRRC Submission

040946-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R4008 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91367767-91507283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91504268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 402 (S402L)

Ref Sequence

ENSEMBL: ENSMUSP00000021346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021346] [ENSMUST00000186437] [ENSMUST00000221216]

AlphaFold

P47750

Predicted Effect

probably benign
Transcript: ENSMUST00000021346
AA Change: S402L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: S402L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:LRR_5	53	153	9.5e-7	PFAM
Pfam:LRR_5	148	244	5.1e-5	PFAM
Pfam:7tm_1	431	678	2.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186437

SMART Domains

Protein: ENSMUSP00000139632
Gene: ENSMUSG00000020963

Domain	Start	End	E-Value	Type
Pfam:7tm_1	1	86	6.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221216

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (32/33)

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 membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
Batf2	G	A	19: 6,221,378 (GRCm39)	E63K	probably damaging	Het
Chd1l	A	T	3: 97,477,718 (GRCm39)	M679K	probably benign	Het
Clvs2	G	A	10: 33,419,458 (GRCm39)	H199Y	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
H2-K2	G	A	17: 34,218,525 (GRCm39)		probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Larp7	T	C	3: 127,334,519 (GRCm39)	D490G	probably benign	Het
Map9	T	C	3: 82,266,390 (GRCm39)	Y12H	probably damaging	Het
Mn1	G	T	5: 111,568,035 (GRCm39)	E668D	probably benign	Het
Mrps18c	T	C	5: 100,950,982 (GRCm39)		probably benign	Het
Npdc1	T	A	2: 25,298,992 (GRCm39)	Y237*	probably null	Het
Oprm1	A	G	10: 6,782,520 (GRCm39)	M388V	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or4n5	A	G	14: 50,132,464 (GRCm39)	L265P	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Pwp1	A	G	10: 85,717,898 (GRCm39)	T279A	possibly damaging	Het
Rabep2	C	A	7: 126,044,546 (GRCm39)	D547E	probably damaging	Het
Rbm34	T	C	8: 127,676,037 (GRCm39)	K426R	probably benign	Het
Rgs14	T	G	13: 55,517,726 (GRCm39)	L8V	probably damaging	Het
Ripor2	A	G	13: 24,880,521 (GRCm39)	H407R	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc39a12	T	C	2: 14,456,928 (GRCm39)	F603L	probably damaging	Het
Smg5	T	C	3: 88,256,465 (GRCm39)	S244P	probably benign	Het
St3gal3	T	C	4: 117,797,637 (GRCm39)	I252V	probably benign	Het
Tars3	T	A	7: 65,327,876 (GRCm39)	D528E	probably damaging	Het
Try10	A	G	6: 41,333,608 (GRCm39)	T118A	probably benign	Het

Other mutations in Tshr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Tshr	APN	12	91,504,274 (GRCm39)	missense	probably damaging	1.00
IGL01503:Tshr	APN	12	91,478,708 (GRCm39)	missense	probably damaging	1.00
IGL01730:Tshr	APN	12	91,486,077 (GRCm39)	missense	possibly damaging	0.93
IGL02109:Tshr	APN	12	91,504,766 (GRCm39)	missense	probably damaging	1.00
IGL02199:Tshr	APN	12	91,505,057 (GRCm39)	missense	probably damaging	1.00
IGL02439:Tshr	APN	12	91,504,321 (GRCm39)	missense	probably damaging	0.97
IGL02696:Tshr	APN	12	91,460,103 (GRCm39)	missense	possibly damaging	0.72
IGL03170:Tshr	APN	12	91,504,643 (GRCm39)	missense	probably damaging	1.00
IGL03208:Tshr	APN	12	91,500,716 (GRCm39)	missense	probably damaging	1.00
freckle	UTSW	12	91,505,000 (GRCm39)	nonsense	probably null
R0067_Tshr_655	UTSW	12	91,472,057 (GRCm39)	missense	probably damaging	1.00
R0017:Tshr	UTSW	12	91,504,660 (GRCm39)	missense	possibly damaging	0.95
R0017:Tshr	UTSW	12	91,504,660 (GRCm39)	missense	possibly damaging	0.95
R0067:Tshr	UTSW	12	91,472,057 (GRCm39)	missense	probably damaging	1.00
R0419:Tshr	UTSW	12	91,504,643 (GRCm39)	missense	probably damaging	1.00
R0658:Tshr	UTSW	12	91,505,000 (GRCm39)	nonsense	probably null
R0724:Tshr	UTSW	12	91,505,060 (GRCm39)	missense	probably damaging	1.00
R1170:Tshr	UTSW	12	91,504,871 (GRCm39)	missense	probably damaging	1.00
R1188:Tshr	UTSW	12	91,468,942 (GRCm39)	missense	probably benign	0.00
R1548:Tshr	UTSW	12	91,500,805 (GRCm39)	missense	probably damaging	1.00
R1677:Tshr	UTSW	12	91,504,115 (GRCm39)	missense	possibly damaging	0.81
R1808:Tshr	UTSW	12	91,504,090 (GRCm39)	missense	probably benign	0.00
R1934:Tshr	UTSW	12	91,503,955 (GRCm39)	missense	probably damaging	0.99
R3980:Tshr	UTSW	12	91,504,517 (GRCm39)	missense	probably damaging	1.00
R4828:Tshr	UTSW	12	91,504,564 (GRCm39)	missense	probably damaging	1.00
R4903:Tshr	UTSW	12	91,367,962 (GRCm39)	missense	probably benign	0.09
R4958:Tshr	UTSW	12	91,504,961 (GRCm39)	missense	probably damaging	1.00
R5528:Tshr	UTSW	12	91,503,967 (GRCm39)	missense	probably damaging	1.00
R5949:Tshr	UTSW	12	91,503,992 (GRCm39)	missense	probably damaging	1.00
R6136:Tshr	UTSW	12	91,505,008 (GRCm39)	missense	probably benign	0.34
R6147:Tshr	UTSW	12	91,505,009 (GRCm39)	missense	possibly damaging	0.84
R6454:Tshr	UTSW	12	91,505,323 (GRCm39)	missense	probably benign	0.33
R6572:Tshr	UTSW	12	91,505,134 (GRCm39)	missense	probably benign	0.29
R6884:Tshr	UTSW	12	91,504,876 (GRCm39)	missense	probably damaging	1.00
R6986:Tshr	UTSW	12	91,500,731 (GRCm39)	missense	probably damaging	0.97
R7403:Tshr	UTSW	12	91,464,548 (GRCm39)	missense	probably damaging	1.00
R7691:Tshr	UTSW	12	91,464,515 (GRCm39)	missense	probably benign	0.00
R7741:Tshr	UTSW	12	91,500,743 (GRCm39)	nonsense	probably null
R7769:Tshr	UTSW	12	91,505,044 (GRCm39)	missense	probably damaging	1.00
R7784:Tshr	UTSW	12	91,472,079 (GRCm39)	missense	probably benign	0.02
R7934:Tshr	UTSW	12	91,478,702 (GRCm39)	missense	possibly damaging	0.88
R8060:Tshr	UTSW	12	91,505,134 (GRCm39)	missense	probably benign	0.12
R8168:Tshr	UTSW	12	91,478,739 (GRCm39)	missense	probably benign	0.19
R8552:Tshr	UTSW	12	91,504,059 (GRCm39)	missense	probably benign	0.00
R8762:Tshr	UTSW	12	91,504,324 (GRCm39)	missense	probably damaging	1.00
R8917:Tshr	UTSW	12	91,468,829 (GRCm39)	intron	probably benign
R8918:Tshr	UTSW	12	91,504,211 (GRCm39)	missense	probably benign	0.00
R8945:Tshr	UTSW	12	91,504,997 (GRCm39)	missense	probably damaging	1.00
R9002:Tshr	UTSW	12	91,504,548 (GRCm39)	missense	possibly damaging	0.95
R9056:Tshr	UTSW	12	91,474,563 (GRCm39)	missense	probably damaging	1.00
R9122:Tshr	UTSW	12	91,478,737 (GRCm39)	missense	probably benign	0.19
R9126:Tshr	UTSW	12	91,503,992 (GRCm39)	missense	probably damaging	1.00
R9282:Tshr	UTSW	12	91,474,518 (GRCm39)	missense	possibly damaging	0.53
R9488:Tshr	UTSW	12	91,504,589 (GRCm39)	missense	probably damaging	1.00
R9630:Tshr	UTSW	12	91,504,409 (GRCm39)	missense	probably damaging	1.00
R9632:Tshr	UTSW	12	91,504,409 (GRCm39)	missense	probably damaging	1.00
R9687:Tshr	UTSW	12	91,504,439 (GRCm39)	missense	probably damaging	1.00
Z1176:Tshr	UTSW	12	91,505,265 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- AAGTTCCAGGAGAGCCCAAG -3'
(R):5'- GTACAGGTCTACAGAGGCAATG -3'

Sequencing Primer
(F):5'- AAGCAACTCTCACTATTACGTCTTC -3'
(R):5'- TGAGAAGCAGGTATACCCCCATG -3'

Posted On

2015-04-29