Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02109:Tshr'

281141

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 #

IGL02109

Quality Score

Status

Chromosome

Chromosomal Location

91367767-91507283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91504766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 568 (I568N)

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: I568N

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

SMART Domains

Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: I568N

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	T	A	8: 23,586,200 (GRCm39)	N427K	probably damaging	Het
Ano10	C	T	9: 122,090,408 (GRCm39)	E302K	probably damaging	Het
Arl3	T	A	19: 46,530,785 (GRCm39)		probably benign	Het
Clec14a	T	A	12: 58,314,934 (GRCm39)	E229D	probably benign	Het
Ctbp1	T	C	5: 33,424,312 (GRCm39)	D26G	probably damaging	Het
Flt3	G	T	5: 147,287,491 (GRCm39)	H671N	probably benign	Het
Fras1	A	G	5: 96,848,382 (GRCm39)	D1799G	probably benign	Het
Il20ra	G	A	10: 19,635,253 (GRCm39)	G498D	possibly damaging	Het
Kcnu1	T	G	8: 26,427,727 (GRCm39)	L348R	possibly damaging	Het
Lrpprc	A	T	17: 85,033,998 (GRCm39)	L999*	probably null	Het
Myt1	T	G	2: 181,457,410 (GRCm39)		probably benign	Het
N4bp2	C	T	5: 65,955,477 (GRCm39)	T467M	probably damaging	Het
Nup98	T	C	7: 101,832,693 (GRCm39)	T355A	probably benign	Het
Ocstamp	A	T	2: 165,239,256 (GRCm39)	V310E	possibly damaging	Het
Or4k39	T	G	2: 111,238,838 (GRCm39)		noncoding transcript	Het
Or8b3	T	C	9: 38,314,382 (GRCm39)	F71L	possibly damaging	Het
Plcb1	C	A	2: 134,628,479 (GRCm39)	H9Q	probably damaging	Het
Plxna4	T	A	6: 32,192,576 (GRCm39)	Q795L	probably benign	Het
Pms1	A	G	1: 53,246,568 (GRCm39)	S324P	probably damaging	Het
Pnldc1	G	T	17: 13,124,425 (GRCm39)	H143Q	probably benign	Het
Ppp1r12b	A	G	1: 134,800,543 (GRCm39)		probably null	Het
Ryr3	A	G	2: 112,779,502 (GRCm39)	F250L	probably benign	Het
Scgn	T	C	13: 24,137,948 (GRCm39)	D241G	possibly damaging	Het
St8sia4	T	C	1: 95,588,617 (GRCm39)	I73V	possibly damaging	Het
Tle3	T	A	9: 61,320,332 (GRCm39)	C595S	probably damaging	Het
Tmem209	T	C	6: 30,497,944 (GRCm39)	Y117C	probably damaging	Het
Ttll10	C	T	4: 156,131,937 (GRCm39)	D22N	probably benign	Het
Ttn	A	T	2: 76,640,202 (GRCm39)	V13802E	probably 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
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
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

2015-04-16