Incidental Mutation 'IGL01978:Trh'
ID 181767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trh
Ensembl Gene ENSMUSG00000005892
Gene Name thyrotropin releasing hormone
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01978
Quality Score
Status
Chromosome 6
Chromosomal Location 92219042-92221631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92219596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 240 (A240V)
Ref Sequence ENSEMBL: ENSMUSP00000006046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006046]
AlphaFold Q62361
Predicted Effect probably benign
Transcript: ENSMUST00000006046
AA Change: A240V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006046
Gene: ENSMUSG00000005892
AA Change: A240V

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,453,164 (GRCm39) T6S probably damaging Het
Acot5 T C 12: 84,122,172 (GRCm39) V252A possibly damaging Het
Bmper A T 9: 23,292,737 (GRCm39) N349Y probably damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Col9a2 G A 4: 120,901,863 (GRCm39) G139E unknown Het
Cplane1 A T 15: 8,248,866 (GRCm39) N1805I probably damaging Het
Cyp2j8 A C 4: 96,392,246 (GRCm39) probably null Het
Dcbld2 A G 16: 58,284,682 (GRCm39) D612G probably benign Het
Dsc3 C T 18: 20,107,253 (GRCm39) R456Q possibly damaging Het
Fat2 T C 11: 55,160,972 (GRCm39) T3253A probably benign Het
Hoxc12 T A 15: 102,845,299 (GRCm39) H4Q probably damaging Het
Il6st A G 13: 112,633,891 (GRCm39) E445G possibly damaging Het
Ipo8 T C 6: 148,678,787 (GRCm39) E937G probably benign Het
Kif5a A C 10: 127,081,608 (GRCm39) D185E probably benign Het
Klhl38 T C 15: 58,178,485 (GRCm39) D495G probably damaging Het
Klra5 A G 6: 129,888,393 (GRCm39) V11A probably benign Het
Lrch1 G A 14: 75,023,782 (GRCm39) T581M probably damaging Het
Mecom A G 3: 30,017,315 (GRCm39) I450T probably damaging Het
Mrgprb2 C A 7: 48,202,312 (GRCm39) V138L probably damaging Het
Muc15 G A 2: 110,561,941 (GRCm39) A126T probably benign Het
Mybpc1 A T 10: 88,367,632 (GRCm39) I522K probably damaging Het
Nectin1 G A 9: 43,703,444 (GRCm39) R234H probably damaging Het
Or5b98 T C 19: 12,931,406 (GRCm39) F151S probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Pdia6 T A 12: 17,324,423 (GRCm39) H91Q possibly damaging Het
Pfkfb4 A T 9: 108,858,010 (GRCm39) H445L probably damaging Het
Pkd1l1 T C 11: 8,911,336 (GRCm39) T314A unknown Het
Rb1cc1 A G 1: 6,308,592 (GRCm39) D159G probably damaging Het
Rhoh T A 5: 66,050,031 (GRCm39) S100R probably benign Het
Rsbn1 T A 3: 103,868,816 (GRCm39) D618E probably damaging Het
Slc25a47 T C 12: 108,817,116 (GRCm39) V4A probably damaging Het
Svs3b T A 2: 164,098,541 (GRCm39) M1L probably benign Het
Thsd7a T C 6: 12,331,005 (GRCm39) N1379S probably benign Het
Tmed3 T C 9: 89,586,806 (GRCm39) D58G probably benign Het
Ubox5 A T 2: 130,442,372 (GRCm39) V105E probably benign Het
Vmn2r67 A G 7: 84,800,649 (GRCm39) probably null Het
Vps13c A G 9: 67,837,925 (GRCm39) H1825R probably benign Het
Wasf1 C A 10: 40,812,197 (GRCm39) P329T unknown Het
Wee2 T C 6: 40,432,087 (GRCm39) F219L probably damaging Het
Zp3r T C 1: 130,526,678 (GRCm39) D175G probably damaging Het
Other mutations in Trh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Trh APN 6 92,219,723 (GRCm39) missense possibly damaging 0.77
IGL00835:Trh APN 6 92,219,770 (GRCm39) missense probably benign 0.26
IGL02157:Trh APN 6 92,219,948 (GRCm39) missense probably benign
IGL02997:Trh APN 6 92,220,115 (GRCm39) splice site probably benign
IGL03039:Trh APN 6 92,220,709 (GRCm39) missense probably damaging 0.99
IGL03132:Trh APN 6 92,220,755 (GRCm39) missense probably benign 0.01
IGL02991:Trh UTSW 6 92,220,719 (GRCm39) missense probably damaging 1.00
R0464:Trh UTSW 6 92,220,649 (GRCm39) splice site probably null
R3079:Trh UTSW 6 92,219,551 (GRCm39) missense possibly damaging 0.81
R3874:Trh UTSW 6 92,220,679 (GRCm39) missense possibly damaging 0.74
R3875:Trh UTSW 6 92,220,679 (GRCm39) missense possibly damaging 0.74
R5357:Trh UTSW 6 92,219,815 (GRCm39) missense probably benign 0.11
R6463:Trh UTSW 6 92,219,824 (GRCm39) missense possibly damaging 0.89
R8245:Trh UTSW 6 92,220,050 (GRCm39) missense probably benign
R9191:Trh UTSW 6 92,219,602 (GRCm39) missense possibly damaging 0.92
R9341:Trh UTSW 6 92,220,823 (GRCm39) missense probably benign 0.04
R9343:Trh UTSW 6 92,220,823 (GRCm39) missense probably benign 0.04
R9441:Trh UTSW 6 92,219,939 (GRCm39) missense probably benign
R9613:Trh UTSW 6 92,219,840 (GRCm39) nonsense probably null
Posted On 2014-05-07