Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03170:Tshr'

411793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tshr

Ensembl Gene

ENSMUSG00000020963

Gene Name

thyroid stimulating hormone receptor

Synonyms

hypothroid, pet, hyt

Accession Numbers

Essential gene?

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

Stock #

IGL03170

Quality Score

Status

Chromosome

Chromosomal Location

91367767-91507283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91504643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 527 (M527K)

Ref Sequence

ENSEMBL: ENSMUSP00000021346 (fasta)

Gene Model

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

AlphaFold

P47750

Predicted Effect

probably damaging
Transcript: ENSMUST00000021346
AA Change: M527K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: M527K

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

0.6670

Coding Region Coverage

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 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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,774,861 (GRCm39)	D1023G	probably damaging	Het
Ccn1	C	A	3: 145,355,514 (GRCm39)	A12S	probably benign	Het
Cyp2c54	A	G	19: 40,060,809 (GRCm39)		probably null	Het
Cyp4f37	C	T	17: 32,844,093 (GRCm39)		probably benign	Het
Entpd2	T	C	2: 25,289,493 (GRCm39)	F325S	probably damaging	Het
Flnb	T	C	14: 7,818,261 (GRCm38)	I37T	possibly damaging	Het
Gtpbp10	A	G	5: 5,605,355 (GRCm39)	V116A	probably benign	Het
H2-T9	C	T	17: 36,439,605 (GRCm39)	G125E	probably damaging	Het
Lrp1b	T	A	2: 40,587,456 (GRCm39)	N164I	unknown	Het
Nle1	T	A	11: 82,795,096 (GRCm39)	T312S	probably benign	Het
Or10ab5	T	C	7: 108,245,307 (GRCm39)	I159V	probably benign	Het
Pim1	T	A	17: 29,710,152 (GRCm39)	L12Q	possibly damaging	Het
Plb1	G	T	5: 32,442,246 (GRCm39)	C246F	probably damaging	Het
Ppp4r4	T	C	12: 103,557,033 (GRCm39)		probably benign	Het
Prl6a1	T	A	13: 27,499,406 (GRCm39)	V63D	possibly damaging	Het
Ptprz1	G	A	6: 22,959,766 (GRCm39)	A88T	probably benign	Het
Ranbp3l	A	T	15: 9,029,611 (GRCm39)	E31V	probably damaging	Het
Relch	C	T	1: 105,663,680 (GRCm39)	T943I	probably damaging	Het
Rgs9	G	A	11: 109,150,681 (GRCm39)	T209I	probably benign	Het
Smg8	A	G	11: 86,977,434 (GRCm39)	V49A	probably damaging	Het
Smim6	A	T	11: 115,804,314 (GRCm39)	T34S	possibly damaging	Het
Snw1	T	G	12: 87,519,022 (GRCm39)	T4P	probably benign	Het
Sod2	C	A	17: 13,227,257 (GRCm39)	H70Q	probably benign	Het
Tro	A	G	X: 149,438,556 (GRCm39)	S34P	probably benign	Het
Uggt1	A	C	1: 36,202,342 (GRCm39)	V1085G	probably damaging	Het
Vmn1r21	A	G	6: 57,820,847 (GRCm39)	V199A	probably damaging	Het
Xkr9	T	C	1: 13,771,036 (GRCm39)	I184T	possibly damaging	Het
Zfp369	T	C	13: 65,442,224 (GRCm39)	S273P	probably damaging	Het
Zpld2	C	T	4: 133,920,345 (GRCm39)	V607I	possibly damaging	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
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
R4008:Tshr	UTSW	12	91,504,268 (GRCm39)	missense	probably benign	0.21
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

Posted On

2016-08-02