Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02199:Tshr'

284214

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: 0.238) question?

Stock #

IGL02199

Quality Score

Status

Chromosome

Chromosomal Location

91367767-91507283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91505057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 73 (L73R)

Ref Sequence

ENSEMBL: ENSMUSP00000139632 (fasta)

Gene Model

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

AlphaFold

P47750

Predicted Effect

probably damaging
Transcript: ENSMUST00000021346
AA Change: L665R

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

SMART Domains

Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: L665R

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 damaging
Transcript: ENSMUST00000186437
AA Change: L73R

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

SMART Domains

Protein: ENSMUSP00000139632
Gene: ENSMUSG00000020963
AA Change: L73R

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Aspg	T	C	12: 112,087,426 (GRCm39)	V294A	probably benign	Het
Brms1l	A	G	12: 55,907,957 (GRCm39)		probably benign	Het
Celf5	T	A	10: 81,318,318 (GRCm39)	D41V	possibly damaging	Het
Clcn3	T	A	8: 61,386,126 (GRCm39)	K282*	probably null	Het
Clcn3	T	A	8: 61,380,308 (GRCm39)	T543S	possibly damaging	Het
Ctsj	T	A	13: 61,150,351 (GRCm39)	N216I	probably damaging	Het
Dusp28	A	G	1: 92,835,280 (GRCm39)		probably benign	Het
Fbp1	A	G	13: 63,015,193 (GRCm39)	I262T	probably damaging	Het
Gata4	A	G	14: 63,437,912 (GRCm39)	V413A	possibly damaging	Het
Glb1	A	G	9: 114,303,015 (GRCm39)	N617S	probably benign	Het
Gm454	T	A	5: 138,202,285 (GRCm39)		noncoding transcript	Het
Hesx1	A	G	14: 26,723,481 (GRCm39)	S104G	probably benign	Het
Igf2bp3	T	C	6: 49,065,458 (GRCm39)	N478S	probably benign	Het
Klrk1	T	C	6: 129,598,207 (GRCm39)		probably null	Het
Lamb2	A	G	9: 108,357,824 (GRCm39)	T116A	possibly damaging	Het
Mbd2	T	C	18: 70,726,371 (GRCm39)	V270A	probably damaging	Het
Meis2	C	T	2: 115,830,737 (GRCm39)	V259I	probably benign	Het
Mtcl2	A	T	2: 156,872,865 (GRCm39)	L882Q	probably damaging	Het
Ngly1	T	A	14: 16,290,844 (GRCm38)	I442K	probably damaging	Het
Nrxn1	A	G	17: 90,344,686 (GRCm39)	L409P	probably damaging	Het
Otog	G	A	7: 45,926,775 (GRCm39)	V1175I	possibly damaging	Het
Parp12	C	T	6: 39,073,524 (GRCm39)	A434T	probably benign	Het
Prrt3	G	A	6: 113,471,770 (GRCm39)	P801S	probably damaging	Het
Rps6ka2	G	T	17: 7,521,852 (GRCm39)		probably benign	Het
Slc18a1	C	A	8: 69,496,632 (GRCm39)	V344L	probably benign	Het
Spg11	T	A	2: 121,890,034 (GRCm39)	T2103S	probably damaging	Het
Stoml2	A	G	4: 43,029,366 (GRCm39)		probably benign	Het
Ylpm1	C	T	12: 85,080,779 (GRCm39)	Q786*	probably null	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
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