Incidental Mutation 'IGL00835:Trh'
ID14565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trh
Ensembl Gene ENSMUSG00000005892
Gene Namethyrotropin releasing hormone
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00835
Quality Score
Status
Chromosome6
Chromosomal Location92242061-92244650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92242789 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 182 (E182G)
Ref Sequence ENSEMBL: ENSMUSP00000006046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006046]
Predicted Effect probably benign
Transcript: ENSMUST00000006046
AA Change: E182G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006046
Gene: ENSMUSG00000005892
AA Change: E182G

DomainStartEndE-ValueType
Pfam:TRH 6 125 5.4e-16 PFAM
Pfam:TRH 140 224 2.2e-20 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The mouse proprotein contains five thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Disruption of this gene results in hypothyroidism, elevated thyroid-stimulating hormone levels, and hyperglycemia. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,302,733 D1023G probably damaging Het
Agbl3 A G 6: 34,799,732 D391G probably damaging Het
Aggf1 C A 13: 95,362,477 V450F probably damaging Het
Alms1 A G 6: 85,622,134 Y1314C probably damaging Het
Arfgef3 A G 10: 18,661,358 F192L probably benign Het
Arnt A G 3: 95,490,340 D541G probably damaging Het
AU040320 A G 4: 126,757,071 probably null Het
Cep290 A T 10: 100,563,380 R2255* probably null Het
Creb3l4 T A 3: 90,241,987 H138L possibly damaging Het
Crispld2 G A 8: 120,010,648 R46H probably damaging Het
Crlf3 T C 11: 80,047,675 T379A probably benign Het
Ctsb T A 14: 63,135,650 D85E probably damaging Het
Etv2 A T 7: 30,633,667 D325E probably benign Het
Fggy T A 4: 95,837,628 I335N possibly damaging Het
Fkbp1b C T 12: 4,833,726 G90S probably damaging Het
Glra3 A G 8: 55,940,977 probably benign Het
Gpatch8 C A 11: 102,478,549 A1388S probably damaging Het
Grin2b T A 6: 135,733,570 S993C probably damaging Het
Gsg1 A T 6: 135,244,092 M103K possibly damaging Het
Il12rb2 A T 6: 67,360,567 V110D probably damaging Het
Kat8 A G 7: 127,920,504 D174G probably damaging Het
Krt82 A T 15: 101,543,378 I334N probably damaging Het
Lrrfip1 C T 1: 91,115,418 T515I possibly damaging Het
Lrrtm2 T A 18: 35,214,239 L3F probably benign Het
Man1c1 T A 4: 134,564,532 Q575L probably damaging Het
Panx1 A G 9: 15,007,844 S240P probably damaging Het
Phldb2 G A 16: 45,751,456 T1191I probably damaging Het
Plb1 G A 5: 32,364,172 E1456K unknown Het
Prtn3 A G 10: 79,881,052 T84A probably benign Het
R3hdm1 T C 1: 128,235,632 probably benign Het
Sirpa G A 2: 129,609,183 C121Y probably damaging Het
Slc9a3 C A 13: 74,160,302 H475N probably benign Het
Smgc A T 15: 91,844,420 D121V probably damaging Het
Spata16 A T 3: 26,924,262 E459V probably damaging Het
Sult2a4 T A 7: 13,909,789 E284D probably benign Het
Tbc1d32 A G 10: 56,089,846 probably benign Het
Thsd7a A C 6: 12,554,934 V317G probably damaging Het
Tsc1 A G 2: 28,672,466 D368G possibly damaging Het
Ttc39d T G 17: 80,216,526 C205G probably damaging Het
Unc79 T G 12: 103,141,890 probably benign Het
Vps13d A T 4: 145,160,652 D724E probably damaging Het
Zc3h14 T A 12: 98,747,524 probably null Het
Zfp507 G T 7: 35,776,038 H917N probably damaging Het
Other mutations in Trh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Trh APN 6 92242742 missense possibly damaging 0.77
IGL01978:Trh APN 6 92242615 missense probably benign
IGL02157:Trh APN 6 92242967 missense probably benign
IGL02997:Trh APN 6 92243134 splice site probably benign
IGL03039:Trh APN 6 92243728 missense probably damaging 0.99
IGL03132:Trh APN 6 92243774 missense probably benign 0.01
IGL02991:Trh UTSW 6 92243738 missense probably damaging 1.00
R0464:Trh UTSW 6 92243668 splice site probably null
R3079:Trh UTSW 6 92242570 missense possibly damaging 0.81
R3874:Trh UTSW 6 92243698 missense possibly damaging 0.74
R3875:Trh UTSW 6 92243698 missense possibly damaging 0.74
R5357:Trh UTSW 6 92242834 missense probably benign 0.11
R6463:Trh UTSW 6 92242843 missense possibly damaging 0.89
Posted On2012-12-06