Incidental Mutation 'IGL01503:Tshr'
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ID88939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tshr
Ensembl Gene ENSMUSG00000020963
Gene Namethyroid stimulating hormone receptor
Synonymspet, hyt, hypothroid
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.373) question?
Stock #IGL01503
Quality Score
Status
Chromosome12
Chromosomal Location91384563-91549808 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91511934 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 83 (Y83C)
Ref Sequence ENSEMBL: ENSMUSP00000152158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021343] [ENSMUST00000021346] [ENSMUST00000221216]
Predicted Effect probably damaging
Transcript: ENSMUST00000021343
AA Change: Y185C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021343
Gene: ENSMUSG00000020963
AA Change: Y185C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:LRR_5 53 143 1e-6 PFAM
Pfam:LRR_5 137 228 3.8e-5 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000021346
AA Change: Y185C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: Y185C

DomainStartEndE-ValueType
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: ENSMUST00000221216
AA Change: Y83C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Tshr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Tshr APN 12 91537500 missense probably damaging 1.00
IGL01730:Tshr APN 12 91519303 missense possibly damaging 0.93
IGL02109:Tshr APN 12 91537992 missense probably damaging 1.00
IGL02199:Tshr APN 12 91538283 missense probably damaging 1.00
IGL02439:Tshr APN 12 91537547 missense probably damaging 0.97
IGL02696:Tshr APN 12 91493329 missense possibly damaging 0.72
IGL03170:Tshr APN 12 91537869 missense probably damaging 1.00
IGL03208:Tshr APN 12 91533942 missense probably damaging 1.00
freckle UTSW 12 91538226 nonsense probably null
R0067_Tshr_655 UTSW 12 91505283 missense probably damaging 1.00
R0017:Tshr UTSW 12 91537886 missense possibly damaging 0.95
R0017:Tshr UTSW 12 91537886 missense possibly damaging 0.95
R0067:Tshr UTSW 12 91505283 missense probably damaging 1.00
R0419:Tshr UTSW 12 91537869 missense probably damaging 1.00
R0658:Tshr UTSW 12 91538226 nonsense probably null
R0724:Tshr UTSW 12 91538286 missense probably damaging 1.00
R1170:Tshr UTSW 12 91538097 missense probably damaging 1.00
R1188:Tshr UTSW 12 91502168 missense probably benign 0.00
R1548:Tshr UTSW 12 91534031 missense probably damaging 1.00
R1677:Tshr UTSW 12 91537341 missense possibly damaging 0.81
R1808:Tshr UTSW 12 91537316 missense probably benign 0.00
R1934:Tshr UTSW 12 91537181 missense probably damaging 0.99
R3980:Tshr UTSW 12 91537743 missense probably damaging 1.00
R4008:Tshr UTSW 12 91537494 missense probably benign 0.21
R4828:Tshr UTSW 12 91537790 missense probably damaging 1.00
R4903:Tshr UTSW 12 91401188 missense probably benign 0.09
R4958:Tshr UTSW 12 91538187 missense probably damaging 1.00
R5528:Tshr UTSW 12 91537193 missense probably damaging 1.00
R5949:Tshr UTSW 12 91537218 missense probably damaging 1.00
R6136:Tshr UTSW 12 91538234 missense probably benign 0.34
R6147:Tshr UTSW 12 91538235 missense possibly damaging 0.84
R6454:Tshr UTSW 12 91538549 missense probably benign 0.33
R6572:Tshr UTSW 12 91538360 missense probably benign 0.29
R6884:Tshr UTSW 12 91538102 missense probably damaging 1.00
R6986:Tshr UTSW 12 91533957 missense probably damaging 0.97
R7403:Tshr UTSW 12 91497774 missense probably damaging 1.00
R7691:Tshr UTSW 12 91497741 missense probably benign 0.00
R7741:Tshr UTSW 12 91533969 nonsense probably null
R7769:Tshr UTSW 12 91538270 missense probably damaging 1.00
R7784:Tshr UTSW 12 91505305 missense probably benign 0.02
R7934:Tshr UTSW 12 91511928 missense possibly damaging 0.88
R8060:Tshr UTSW 12 91538360 missense probably benign 0.12
R8168:Tshr UTSW 12 91511965 missense probably benign 0.19
R8552:Tshr UTSW 12 91537285 missense probably benign 0.00
R8762:Tshr UTSW 12 91537550 missense probably damaging 1.00
Z1176:Tshr UTSW 12 91538491 missense probably benign 0.44
Posted On2013-12-03