Incidental Mutation 'IGL01978:Trh'
ID181767
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 #IGL01978
Quality Score
Status
Chromosome6
Chromosomal Location92242061-92244650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 92242615 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 240 (A240V)
Ref Sequence ENSEMBL: ENSMUSP00000006046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006046]
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
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
9830107B12Rik T A 17: 48,145,993 T6S probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klhl38 T C 15: 58,315,089 D495G probably damaging Het
Klra5 A G 6: 129,911,430 V11A probably benign Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pdia6 T A 12: 17,274,422 H91Q possibly damaging Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Rsbn1 T A 3: 103,961,500 D618E probably damaging Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Ubox5 A T 2: 130,600,452 V105E probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging Het
Zp3r T C 1: 130,598,941 D175G probably damaging Het
Other mutations in Trh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Trh APN 6 92242742 missense possibly damaging 0.77
IGL00835:Trh APN 6 92242789 missense probably benign 0.26
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
R8245:Trh UTSW 6 92243069 missense probably benign
Posted On2014-05-07