Incidental Mutation 'IGL02825:Trhr'
ID 361178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trhr
Ensembl Gene ENSMUSG00000038760
Gene Name thyrotropin releasing hormone receptor
Synonyms TRH-R1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02825
Quality Score
Status
Chromosome 15
Chromosomal Location 44059531-44099308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44092921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 386 (D386V)
Ref Sequence ENSEMBL: ENSMUSP00000154650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038856] [ENSMUST00000110289] [ENSMUST00000226626] [ENSMUST00000227505]
AlphaFold P21761
Predicted Effect possibly damaging
Transcript: ENSMUST00000038856
AA Change: D386V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036320
Gene: ENSMUSG00000038760
AA Change: D386V

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 possibly damaging
Transcript: ENSMUST00000110289
AA Change: D386V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105918
Gene: ENSMUSG00000038760
AA Change: D386V

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 possibly damaging
Transcript: ENSMUST00000226626
AA Change: D386V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000227505
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,733,710 (GRCm39) V163A possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
B3gnt4 T C 5: 123,649,114 (GRCm39) F160L possibly damaging Het
Brd3 T C 2: 27,339,275 (GRCm39) E685G probably damaging Het
Cacna2d2 C T 9: 107,401,659 (GRCm39) R746C probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chl1 T A 6: 103,645,764 (GRCm39) V268E possibly damaging Het
Cpb1 T A 3: 20,303,889 (GRCm39) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm39) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm39) probably benign Het
Edc4 T C 8: 106,617,243 (GRCm39) S1021P probably damaging Het
Exoc7 A C 11: 116,188,411 (GRCm39) L296R probably damaging Het
Fgd5 A G 6: 92,015,068 (GRCm39) probably null Het
Gm28042 T A 2: 119,862,125 (GRCm39) M232K probably damaging Het
Ints1 A T 5: 139,750,494 (GRCm39) S888T probably benign Het
Kirrel1 A T 3: 86,996,595 (GRCm39) probably benign Het
Lrp1 C T 10: 127,378,474 (GRCm39) R4037Q probably damaging Het
Lrrc37 G A 11: 103,507,894 (GRCm39) probably benign Het
Lrrn3 A T 12: 41,502,592 (GRCm39) V575D probably damaging Het
Mapk11 A G 15: 89,030,585 (GRCm39) Y103H probably damaging Het
Mrpl19 G T 6: 81,942,796 (GRCm39) T38K probably benign Het
Nefl A T 14: 68,321,795 (GRCm39) K128N possibly damaging Het
Olfm1 A G 2: 28,119,090 (GRCm39) N242D probably damaging Het
Oprd1 T A 4: 131,844,670 (GRCm39) T113S probably damaging Het
Or10d1 A T 9: 39,483,877 (GRCm39) I226N probably damaging Het
Or52s19 T C 7: 103,007,568 (GRCm39) I278V probably benign Het
Pds5b C T 5: 150,652,435 (GRCm39) T234I possibly damaging Het
Prpf3 A T 3: 95,760,792 (GRCm39) C37S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Rph3a T C 5: 121,083,509 (GRCm39) K587R possibly damaging Het
Scn3b T C 9: 40,188,441 (GRCm39) C5R probably damaging Het
Sirpa C T 2: 129,457,372 (GRCm39) P149S probably damaging Het
Slco1a1 A T 6: 141,864,343 (GRCm39) C486S probably damaging Het
Spin1 C A 13: 51,277,332 (GRCm39) probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Tom1 A G 8: 75,783,883 (GRCm39) D64G probably damaging Het
Trbv4 T A 6: 41,036,613 (GRCm39) L46Q probably damaging Het
Vmn2r101 T A 17: 19,810,132 (GRCm39) I306N probably benign Het
Vmn2r51 C T 7: 9,832,046 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,576,274 (GRCm39) probably null Het
Zfp277 T C 12: 40,367,175 (GRCm39) K494E probably benign Het
Zranb3 A T 1: 127,887,489 (GRCm39) S979R probably benign 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
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
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
Posted On 2015-12-18