Incidental Mutation 'IGL01730:Tshr'
ID105444
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: 0.395) question?
Stock #IGL01730
Quality Score
Status
Chromosome12
Chromosomal Location91384563-91549808 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91519303 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 217 (D217V)
Ref Sequence ENSEMBL: ENSMUSP00000021343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021343] [ENSMUST00000021346] [ENSMUST00000221216]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021343
AA Change: D217V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021343
Gene: ENSMUSG00000020963
AA Change: D217V

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 benign
Transcript: ENSMUST00000021346
AA Change: D217V

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: D217V

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 possibly damaging
Transcript: ENSMUST00000221216
AA Change: D115V

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 35,962,239 E287G probably damaging Het
Bhmt A T 13: 93,625,409 V122E probably damaging Het
Camta1 A G 4: 151,062,845 I585T probably damaging Het
Cfap221 A G 1: 119,934,111 S645P probably benign Het
Derl1 A T 15: 57,892,147 F50Y possibly damaging Het
Dhrs3 T C 4: 144,919,472 S117P probably damaging Het
E2f8 A T 7: 48,877,934 probably benign Het
Fam46b A T 4: 133,486,522 probably null Het
Fbn1 A T 2: 125,312,974 probably benign Het
Fbxo15 A G 18: 84,964,174 I250M probably benign Het
Ghr A T 15: 3,320,584 S371T probably damaging Het
Gm5884 A T 6: 128,645,706 noncoding transcript Het
Grhl2 T C 15: 37,337,774 V496A probably benign Het
Gsap A G 5: 21,290,154 probably benign Het
Irak3 T C 10: 120,178,100 D148G probably benign Het
Itga2 A T 13: 114,854,411 probably benign Het
Kif13b T C 14: 64,750,361 probably null Het
Kif20b A T 19: 34,950,523 K1022* probably null Het
Klhl17 G T 4: 156,231,700 S399* probably null Het
Lcp2 A T 11: 34,050,943 D42V possibly damaging Het
Lin7c G T 2: 109,896,440 G145* probably null Het
Lrba A G 3: 86,741,424 D2493G possibly damaging Het
Mobp A G 9: 120,167,926 D41G probably damaging Het
Mycbp2 G A 14: 103,135,204 Q785* probably null Het
Myl6b T C 10: 128,496,342 Y85C possibly damaging Het
Nup133 G T 8: 123,938,233 H240N probably benign Het
Olfr1448 A C 19: 12,919,562 F249C probably damaging Het
Plk4 T C 3: 40,805,850 S394P probably benign Het
Prepl A G 17: 85,081,175 Y167H possibly damaging Het
Prkab1 A G 5: 116,021,492 L105P probably damaging Het
Ryr2 T A 13: 11,601,842 I3897L possibly damaging Het
Sema3c A G 5: 17,711,436 S469G probably benign Het
Serpinb3c T A 1: 107,273,184 S168C probably damaging Het
Snapc4 A T 2: 26,363,724 probably null Het
Sorcs2 A T 5: 36,047,809 M528K probably damaging Het
Spink10 T A 18: 62,651,745 probably null Het
Thsd7a C A 6: 12,554,981 Q301H probably benign Het
Tmem135 A T 7: 89,148,044 F335I possibly damaging Het
Ttyh1 G A 7: 4,125,721 V206M possibly damaging Het
Tusc3 T G 8: 39,164,839 *348G probably null Het
Vmn2r76 G A 7: 86,230,198 T298I probably benign Het
Wdr47 T C 3: 108,611,396 F67L probably damaging Het
Other mutations in Tshr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Tshr APN 12 91537500 missense probably damaging 1.00
IGL01503:Tshr APN 12 91511934 missense probably damaging 1.00
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
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
Posted On2014-01-21