Incidental Mutation 'R4378:Trhr'
ID 325213
Institutional Source Beutler Lab
Gene Symbol Trhr
Ensembl Gene ENSMUSG00000038760
Gene Name thyrotropin releasing hormone receptor
Synonyms TRH-R1
MMRRC Submission 041121-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4378 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 44059531-44099308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44061023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 181 (Y181C)
Ref Sequence ENSEMBL: ENSMUSP00000154650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038856] [ENSMUST00000110289] [ENSMUST00000226626] [ENSMUST00000227505]
AlphaFold P21761
Predicted Effect probably damaging
Transcript: ENSMUST00000038856
AA Change: Y181C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036320
Gene: ENSMUSG00000038760
AA Change: Y181C

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 damaging
Transcript: ENSMUST00000110289
AA Change: Y181C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105918
Gene: ENSMUSG00000038760
AA Change: Y181C

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 damaging
Transcript: ENSMUST00000226626
AA Change: Y181C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000227505
Meta Mutation Damage Score 0.8852 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Adora1 A G 1: 134,130,948 (GRCm39) F241S probably damaging Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo1 C T 3: 108,099,069 (GRCm39) probably benign Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Armc2 T C 10: 41,869,078 (GRCm39) T29A possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Borcs5 T C 6: 134,621,292 (GRCm39) V21A probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Cyp4f40 A G 17: 32,887,003 (GRCm39) N158S probably null Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or1j1 T C 2: 36,702,481 (GRCm39) M208V probably benign Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Ppp4r3b T A 11: 29,159,450 (GRCm39) N180K possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Ube4b C T 4: 149,468,255 (GRCm39) D174N probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F possibly damaging 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
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
R5496:Trhr UTSW 15 44,060,932 (GRCm39) missense probably benign 0.00
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'- AGGTACATAGCAATCTGTCACCC -3'
(R):5'- CCTGGAAGATACAGTGCTGTTG -3'

Sequencing Primer
(F):5'- CCATCAAAGCCCAGTTTCTCTG -3'
(R):5'- CTGATGGATTGAGTCATTTTTCCAC -3'
Posted On 2015-07-06