Incidental Mutation 'R3079:Trh'
ID 265328
Institutional Source Beutler Lab
Gene Symbol Trh
Ensembl Gene ENSMUSG00000005892
Gene Name thyrotropin releasing hormone
Synonyms
MMRRC Submission 040569-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3079 (G1)
Quality Score 210
Status Not validated
Chromosome 6
Chromosomal Location 92219042-92221631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92219551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 255 (E255G)
Ref Sequence ENSEMBL: ENSMUSP00000006046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006046]
AlphaFold Q62361
Predicted Effect possibly damaging
Transcript: ENSMUST00000006046
AA Change: E255G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006046
Gene: ENSMUSG00000005892
AA Change: E255G

DomainStartEndE-ValueType
Pfam:TRH 6 125 5.4e-16 PFAM
Pfam:TRH 140 224 2.2e-20 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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
Aaas A T 15: 102,248,879 (GRCm39) L168H probably damaging Het
Abca15 T C 7: 119,984,392 (GRCm39) W1158R probably damaging Het
Anks4b A T 7: 119,781,146 (GRCm39) D59V probably damaging Het
Aqp11 A T 7: 97,386,795 (GRCm39) C134S probably benign Het
Arhgap35 A G 7: 16,296,501 (GRCm39) Y855H probably damaging Het
Ces1c A C 8: 93,846,975 (GRCm39) L93R probably damaging Het
Cit A G 5: 116,063,545 (GRCm39) D462G probably damaging Het
Col6a6 T C 9: 105,631,422 (GRCm39) R1494G probably benign Het
Edc4 T C 8: 106,611,750 (GRCm39) S109P possibly damaging Het
Elp4 T C 2: 105,639,790 (GRCm39) K130E possibly damaging Het
Gemin5 A T 11: 58,036,345 (GRCm39) V666E probably damaging Het
Hba-x A G 11: 32,227,616 (GRCm39) D62G probably damaging Het
Hnrnpul1 A T 7: 25,432,540 (GRCm39) Y474* probably null Het
Ighv5-6 T A 12: 113,589,237 (GRCm39) D81V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Mbtps1 A G 8: 120,257,944 (GRCm39) V431A probably benign Het
Mbtps1 T C 8: 120,265,602 (GRCm39) D315G probably damaging Het
Mrc2 T C 11: 105,227,539 (GRCm39) S591P probably damaging Het
Msh5 T C 17: 35,265,208 (GRCm39) E48G probably benign Het
Mybpc2 T C 7: 44,155,505 (GRCm39) D916G probably damaging Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Nlrp1b T C 11: 71,108,794 (GRCm39) R236G probably benign Het
Obsl1 G T 1: 75,467,467 (GRCm39) R1436S probably damaging Het
Or14j4 T C 17: 37,921,169 (GRCm39) T158A probably benign Het
Or51a7 C T 7: 102,622,254 (GRCm39) probably null Het
Padi2 T C 4: 140,677,189 (GRCm39) V659A probably damaging Het
Pnpla6 T G 8: 3,591,512 (GRCm39) S1169A probably benign Het
Pramel30 T G 4: 144,058,098 (GRCm39) L235R probably damaging Het
Prl6a1 A G 13: 27,502,983 (GRCm39) D193G possibly damaging Het
Rce1 G T 19: 4,674,750 (GRCm39) C138* probably null Het
Shoc1 G T 4: 59,047,848 (GRCm39) T1257N possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint2 A G 4: 112,496,870 (GRCm39) T259A probably benign Het
Slc66a1 G T 4: 139,033,829 (GRCm39) A30D probably damaging Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Slfn1 T C 11: 83,011,986 (GRCm39) V34A probably benign Het
Syt4 A G 18: 31,574,738 (GRCm39) V293A probably benign Het
Ube4a G T 9: 44,871,371 (GRCm39) N9K probably damaging Het
Uck1 A T 2: 32,148,089 (GRCm39) probably benign Het
Vmn1r222 A G 13: 23,416,631 (GRCm39) M194T possibly damaging Het
Vmn2r91 T G 17: 18,355,973 (GRCm39) probably null Het
Wbp2 C T 11: 115,970,534 (GRCm39) probably null Het
Zdbf2 A G 1: 63,346,636 (GRCm39) I1672V probably benign 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
IGL01978:Trh APN 6 92,219,596 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TAACTTCCTGATTGGCTCTTTGAAG -3'
(R):5'- CCTGAGCTCCAAAGAAGCTG -3'

Sequencing Primer
(F):5'- ATTGGCTCTTTGAAGTTCCTGAAG -3'
(R):5'- GAGGAGGGTGGCTTAATGC -3'
Posted On 2015-02-05