Incidental Mutation 'R5496:Trhr'
ID 432378
Institutional Source Beutler Lab
Gene Symbol Trhr
Ensembl Gene ENSMUSG00000038760
Gene Name thyrotropin releasing hormone receptor
Synonyms TRH-R1
MMRRC Submission 043057-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5496 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 44059531-44099308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44060932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 151 (A151T)
Ref Sequence ENSEMBL: ENSMUSP00000154650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038856] [ENSMUST00000110289] [ENSMUST00000226626] [ENSMUST00000227505]
AlphaFold P21761
Predicted Effect probably benign
Transcript: ENSMUST00000038856
AA Change: A151T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000036320
Gene: ENSMUSG00000038760
AA Change: A151T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 33 177 1.6e-7 PFAM
Pfam:7TM_GPCR_Srsx 36 335 4.8e-12 PFAM
Pfam:7tm_1 42 320 1.6e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110289
AA Change: A151T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105918
Gene: ENSMUSG00000038760
AA Change: A151T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 33 175 1.9e-7 PFAM
Pfam:7TM_GPCR_Srsx 36 335 4.8e-12 PFAM
Pfam:7tm_1 42 320 1.3e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226626
AA Change: A151T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000227505
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice are fertile and display decreased thyroxine, triiodothyronine, and prolactin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,724,818 (GRCm39) V84I probably benign Het
Adam10 T G 9: 70,630,021 (GRCm39) F151C probably damaging Het
Akap6 A G 12: 53,187,436 (GRCm39) S1617G possibly damaging Het
Ano6 T A 15: 95,865,495 (GRCm39) probably null Het
Atmin A G 8: 117,683,911 (GRCm39) T524A probably benign Het
Bicra C T 7: 15,721,766 (GRCm39) V584I probably benign Het
Carmil1 G A 13: 24,339,433 (GRCm39) R54C probably damaging Het
Cbln1 A G 8: 88,198,324 (GRCm39) I127T possibly damaging Het
Ccl26 A G 5: 135,592,217 (GRCm39) V40A probably benign Het
Cdh20 T A 1: 109,976,647 (GRCm39) I104N probably damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Cfap91 A G 16: 38,141,855 (GRCm39) I359T probably damaging Het
Col12a1 A G 9: 79,509,467 (GRCm39) probably benign Het
Csf2rb A G 15: 78,224,761 (GRCm39) E173G probably damaging Het
Cyb561 A G 11: 105,828,545 (GRCm39) Y94H probably damaging Het
Cyp3a16 T A 5: 145,404,341 (GRCm39) K34M probably damaging Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dnah7a T G 1: 53,496,927 (GRCm39) M3110L probably benign Het
Dyrk2 T C 10: 118,695,956 (GRCm39) E434G probably damaging Het
Ebag9 T G 15: 44,503,816 (GRCm39) *214E probably null Het
Egln3 A T 12: 54,250,110 (GRCm39) W80R probably damaging Het
Eps15l1 A G 8: 73,136,619 (GRCm39) Y336H probably benign Het
Gak A G 5: 108,724,483 (GRCm39) S1076P probably benign Het
Glra1 T C 11: 55,418,241 (GRCm39) Y168C probably damaging Het
Glrx2 T A 1: 143,620,945 (GRCm39) M108K probably damaging Het
Gm3604 A T 13: 62,519,393 (GRCm39) S59T possibly damaging Het
Gm8212 A T 14: 44,438,614 (GRCm39) probably benign Het
Gmcl1 G T 6: 86,674,507 (GRCm39) A457D probably damaging Het
H2-M11 T C 17: 36,858,871 (GRCm39) F137S possibly damaging Het
Ighv1-55 C G 12: 115,172,140 (GRCm39) W3S probably damaging Het
Il22 T G 10: 118,041,002 (GRCm39) V36G possibly damaging Het
Ints1 G A 5: 139,740,953 (GRCm39) A1904V probably benign Het
Iqgap2 A G 13: 95,766,561 (GRCm39) Y1481H probably damaging Het
Kcnn3 C T 3: 89,516,797 (GRCm39) A402V possibly damaging Het
Kif18b A T 11: 102,804,568 (GRCm39) I362N possibly damaging Het
Kif5c C G 2: 49,620,202 (GRCm39) A223G possibly damaging Het
Kntc1 A G 5: 123,922,245 (GRCm39) D948G probably benign Het
Krba1 A G 6: 48,383,290 (GRCm39) T229A possibly damaging Het
Leprot T A 4: 101,515,093 (GRCm39) I113N probably damaging Het
Lrp1b T C 2: 40,817,985 (GRCm39) D2415G probably benign Het
Mnd1 T A 3: 83,995,481 (GRCm39) D171V probably damaging Het
Mthfsd A T 8: 121,825,553 (GRCm39) Y339* probably null Het
Nfatc2 G A 2: 168,378,198 (GRCm39) T268M probably damaging Het
Or14j10 T C 17: 37,935,469 (GRCm39) D19G probably benign Het
Or52d3 G C 7: 104,229,701 (GRCm39) A283P probably damaging Het
Or8h7 G T 2: 86,720,658 (GRCm39) P287Q probably damaging Het
Or8h7 G C 2: 86,720,659 (GRCm39) P287A probably damaging Het
Pan3 G A 5: 147,463,938 (GRCm39) probably null Het
Pde6a A T 18: 61,386,736 (GRCm39) probably null Het
Prss39 T C 1: 34,539,342 (GRCm39) I194T possibly damaging Het
Rfx8 T C 1: 39,709,507 (GRCm39) S507G probably benign Het
Rif1 T C 2: 51,988,928 (GRCm39) S774P probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Smurf1 C A 5: 144,819,403 (GRCm39) E601* probably null Het
Stau2 T C 1: 16,460,245 (GRCm39) S231G probably damaging Het
Timp2 T G 11: 118,194,707 (GRCm39) M161L probably benign Het
Tlr5 T C 1: 182,801,197 (GRCm39) L167P probably damaging Het
Unc13d A G 11: 115,957,534 (GRCm39) V807A probably damaging Het
Usp2 T C 9: 43,996,505 (GRCm39) V7A possibly damaging Het
Uspl1 A G 5: 149,146,589 (GRCm39) T447A probably damaging Het
Zan A G 5: 137,434,607 (GRCm39) I2232T unknown Het
Zfp12 C A 5: 143,230,550 (GRCm39) C292* probably null Het
Zfp850 A C 7: 27,706,771 (GRCm39) M43R probably damaging Het
Zic5 G A 14: 122,696,755 (GRCm39) T620M unknown Het
Other mutations in Trhr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Trhr APN 15 44,092,708 (GRCm39) missense probably damaging 1.00
IGL01800:Trhr APN 15 44,092,603 (GRCm39) missense possibly damaging 0.69
IGL01945:Trhr APN 15 44,060,540 (GRCm39) missense probably damaging 0.99
IGL02608:Trhr APN 15 44,061,074 (GRCm39) missense probably benign 0.08
IGL02825:Trhr APN 15 44,092,921 (GRCm39) missense possibly damaging 0.62
pushover UTSW 15 44,061,023 (GRCm39) missense probably damaging 1.00
P4717OSA:Trhr UTSW 15 44,060,831 (GRCm39) missense probably damaging 0.97
R0007:Trhr UTSW 15 44,092,547 (GRCm39) splice site probably benign
R0276:Trhr UTSW 15 44,060,482 (GRCm39) start codon destroyed probably null 0.74
R0620:Trhr UTSW 15 44,092,896 (GRCm39) missense probably benign 0.01
R1563:Trhr UTSW 15 44,060,497 (GRCm39) missense probably benign 0.05
R1728:Trhr UTSW 15 44,060,549 (GRCm39) missense probably damaging 1.00
R1729:Trhr UTSW 15 44,060,549 (GRCm39) missense probably damaging 1.00
R2144:Trhr UTSW 15 44,060,579 (GRCm39) missense probably benign 0.44
R2167:Trhr UTSW 15 44,092,638 (GRCm39) missense probably damaging 1.00
R3965:Trhr UTSW 15 44,061,095 (GRCm39) missense possibly damaging 0.70
R4246:Trhr UTSW 15 44,096,856 (GRCm39) critical splice acceptor site probably null
R4272:Trhr UTSW 15 44,060,620 (GRCm39) missense probably damaging 0.97
R4378:Trhr UTSW 15 44,061,023 (GRCm39) missense probably damaging 1.00
R4618:Trhr UTSW 15 44,061,037 (GRCm39) missense probably benign 0.00
R5093:Trhr UTSW 15 44,060,980 (GRCm39) missense probably damaging 0.96
R5388:Trhr UTSW 15 44,060,873 (GRCm39) missense possibly damaging 0.91
R6341:Trhr UTSW 15 44,092,694 (GRCm39) nonsense probably null
R6463:Trhr UTSW 15 44,060,981 (GRCm39) missense probably benign 0.09
R6575:Trhr UTSW 15 44,092,602 (GRCm39) missense possibly damaging 0.83
R7483:Trhr UTSW 15 44,092,627 (GRCm39) missense probably damaging 1.00
R8780:Trhr UTSW 15 44,061,149 (GRCm39) missense possibly damaging 0.84
R8807:Trhr UTSW 15 44,061,212 (GRCm39) missense probably benign 0.00
R8897:Trhr UTSW 15 44,060,736 (GRCm39) missense probably benign 0.00
R9525:Trhr UTSW 15 44,060,873 (GRCm39) missense possibly damaging 0.91
R9614:Trhr UTSW 15 44,060,981 (GRCm39) missense probably benign 0.09
Y5406:Trhr UTSW 15 44,061,037 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGATCTCATGGTTCTGGTGGC -3'
(R):5'- CACAGTGGCCAGGATCATTG -3'

Sequencing Primer
(F):5'- AACCGACAGTATCTATGGTTCCTGG -3'
(R):5'- TGGCACAACATAAAAGACACCAAAG -3'
Posted On 2016-10-05