Incidental Mutation 'R1548:Tshr'
ID 172350
Institutional Source Beutler Lab
Gene Symbol Tshr
Ensembl Gene ENSMUSG00000020963
Gene Name thyroid stimulating hormone receptor
Synonyms hypothroid, pet, hyt
MMRRC Submission 039587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R1548 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 91367767-91507283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91500805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 279 (Y279H)
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: Y279H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: Y279H

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 benign
Transcript: ENSMUST00000186437
SMART Domains Protein: ENSMUSP00000139632
Gene: ENSMUSG00000020963

DomainStartEndE-ValueType
Pfam:7tm_1 1 86 6.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221216
AA Change: Y177H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.8143 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (69/70)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,588,818 (GRCm39) R78S probably damaging Het
Acad10 G C 5: 121,764,104 (GRCm39) probably benign Het
Acad10 G T 5: 121,764,103 (GRCm39) probably benign Het
Ang2 C A 14: 51,432,990 (GRCm39) E131* probably null Het
Ankfn1 T C 11: 89,417,367 (GRCm39) N82D probably damaging Het
Anks1b T C 10: 89,885,847 (GRCm39) I181T possibly damaging Het
Bcl2l12 C G 7: 44,642,242 (GRCm39) G215R probably damaging Het
Bnc2 A G 4: 84,194,194 (GRCm39) Y1044H probably damaging Het
Cacna1s T C 1: 136,038,675 (GRCm39) F1172S probably damaging Het
Cct8 A G 16: 87,282,472 (GRCm39) I482T probably damaging Het
Cfap74 C T 4: 155,518,502 (GRCm39) T580I probably benign Het
Cib1 A T 7: 79,878,162 (GRCm39) Y105* probably null Het
Cpa1 G A 6: 30,642,334 (GRCm39) G245D probably damaging Het
Csmd3 A G 15: 47,845,371 (GRCm39) V801A possibly damaging Het
Ddx10 T C 9: 53,060,861 (GRCm39) probably null Het
Ddx4 T C 13: 112,736,531 (GRCm39) N613S probably damaging Het
Drd3 A G 16: 43,641,704 (GRCm39) D340G probably benign Het
E2f4 A G 8: 106,031,320 (GRCm39) *411W probably null Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Foxp1 A T 6: 98,922,381 (GRCm39) I450N probably damaging Het
Ftdc1 A T 16: 58,436,202 (GRCm39) D40E probably benign Het
Gpr19 A G 6: 134,847,047 (GRCm39) F175S possibly damaging Het
Gpr21 C T 2: 37,408,084 (GRCm39) T210M probably damaging Het
Grhl2 C T 15: 37,336,567 (GRCm39) A488V probably benign Het
Hif3a T C 7: 16,778,328 (GRCm39) T435A probably benign Het
Hoxb4 C T 11: 96,209,725 (GRCm39) R44* probably null Het
Ifi47 A G 11: 48,986,698 (GRCm39) D155G probably damaging Het
Igdcc4 T C 9: 65,042,509 (GRCm39) L142P probably benign Het
Ints6 G A 14: 62,951,141 (GRCm39) P296L probably damaging Het
Itga3 A G 11: 94,937,745 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Krtap20-1 G A 16: 88,812,277 (GRCm39) probably benign Het
Lgals12 A T 19: 7,581,677 (GRCm39) H50Q probably benign Het
Lrp12 A G 15: 39,735,902 (GRCm39) S696P probably damaging Het
Lrp6 G A 6: 134,436,392 (GRCm39) T1258I possibly damaging Het
Meis2 C T 2: 115,889,183 (GRCm39) D190N probably damaging Het
Mir100hg T C 9: 41,492,672 (GRCm39) L116P probably damaging Het
Mon2 C T 10: 122,871,912 (GRCm39) probably benign Het
Muc6 A G 7: 141,238,368 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myo15a A G 11: 60,379,064 (GRCm39) H1394R probably damaging Het
Myo5a A T 9: 75,079,028 (GRCm39) I929F probably damaging Het
Nek6 T A 2: 38,458,907 (GRCm39) Y141N probably damaging Het
Notch4 T A 17: 34,787,396 (GRCm39) C319S probably damaging Het
Nwd2 A T 5: 63,957,525 (GRCm39) D285V probably benign Het
Olfml1 T C 7: 107,189,582 (GRCm39) S216P possibly damaging Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Pfkfb2 G T 1: 130,625,820 (GRCm39) H453Q probably benign Het
Pigt C T 2: 164,343,439 (GRCm39) T305I probably benign Het
Plxnb1 C T 9: 108,929,968 (GRCm39) L275F possibly damaging Het
Ppm1d C T 11: 85,230,431 (GRCm39) R350C probably damaging Het
Prss1l G T 6: 41,372,945 (GRCm39) L72F probably damaging Het
Rassf1 C A 9: 107,429,045 (GRCm39) P84T probably benign Het
Rgl3 G T 9: 21,892,002 (GRCm39) R361S probably benign Het
Rnf213 G A 11: 119,333,533 (GRCm39) R2914H probably damaging Het
Ryr2 A T 13: 11,569,435 (GRCm39) C4956* probably null Het
Scaper C T 9: 55,723,954 (GRCm39) R668H probably damaging Het
Spata6 T C 4: 111,636,203 (GRCm39) F165L probably benign Het
Tcirg1 A T 19: 3,946,845 (GRCm39) W694R probably benign Het
Tmem245 A T 4: 56,906,233 (GRCm39) Y160* probably null Het
Ttf1 A C 2: 28,955,150 (GRCm39) K171N probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Xdh A G 17: 74,220,896 (GRCm39) V611A probably damaging Het
Zfp142 G T 1: 74,609,263 (GRCm39) H1408N probably damaging Het
Other mutations in Tshr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAGAAAGGAACTTGTCACCTCCC -3'
(R):5'- TGCTCATGTGGATGCTTGCAGC -3'

Sequencing Primer
(F):5'- ATCTCAGAACCGTTTGACTGGAG -3'
(R):5'- GGATGCTTGCAGCTCTTTC -3'
Posted On 2014-04-13