Incidental Mutation 'R5357:Trh'
ID 434537
Institutional Source Beutler Lab
Gene Symbol Trh
Ensembl Gene ENSMUSG00000005892
Gene Name thyrotropin releasing hormone
Synonyms
MMRRC Submission 042936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5357 (G1)
Quality Score 200
Status Not validated
Chromosome 6
Chromosomal Location 92219042-92221631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92219815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 167 (D167V)
Ref Sequence ENSEMBL: ENSMUSP00000006046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006046]
AlphaFold Q62361
Predicted Effect probably benign
Transcript: ENSMUST00000006046
AA Change: D167V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000006046
Gene: ENSMUSG00000005892
AA Change: D167V

DomainStartEndE-ValueType
Pfam:TRH 6 125 5.4e-16 PFAM
Pfam:TRH 140 224 2.2e-20 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.7%
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
1700013G24Rik T C 4: 137,182,463 (GRCm39) V206A possibly damaging Het
5730522E02Rik A T 11: 25,598,148 (GRCm39) C102* probably null Het
Brsk2 C A 7: 141,538,248 (GRCm39) D131E possibly damaging Het
Cacng7 T C 7: 3,387,452 (GRCm39) F112L probably benign Het
Ceacam12 T A 7: 17,811,384 (GRCm39) C282* probably null Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Dyrk1b T C 7: 27,884,743 (GRCm39) V326A possibly damaging Het
Eloa T C 4: 135,736,559 (GRCm39) D563G probably benign Het
Evi5l A G 8: 4,253,623 (GRCm39) K489R possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Galntl6 T C 8: 58,337,497 (GRCm39) E326G probably damaging Het
Gm1758 G A 16: 14,320,218 (GRCm39) noncoding transcript Het
Grm8 A T 6: 27,762,418 (GRCm39) L269Q probably damaging Het
Hsd17b12 A G 2: 93,863,990 (GRCm39) I284T possibly damaging Het
Hyal6 T A 6: 24,734,517 (GRCm39) M150K probably benign Het
Ift80 T A 3: 68,898,113 (GRCm39) Q74L possibly damaging Het
Krt76 T C 15: 101,795,820 (GRCm39) K450R probably benign Het
Larp1b A G 3: 40,978,950 (GRCm39) E2G probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Map2k7 A T 8: 4,294,461 (GRCm39) H253L probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mmp2 A G 8: 93,559,780 (GRCm39) T248A possibly damaging Het
Mt1 T A 8: 94,906,732 (GRCm39) C33S probably damaging Het
Obox5 T A 7: 15,491,463 (GRCm39) M1K probably null Het
Pak4 A G 7: 28,263,831 (GRCm39) S302P probably damaging Het
Pcsk2 T C 2: 143,415,384 (GRCm39) Y66H probably benign Het
Pgm3 G A 9: 86,438,310 (GRCm39) R451* probably null Het
Phf10 A T 17: 15,174,275 (GRCm39) probably null Het
Pkd1 T G 17: 24,784,764 (GRCm39) V402G probably damaging Het
Plekha4 G T 7: 45,184,195 (GRCm39) V61F probably damaging Het
Ppfia2 G A 10: 106,740,708 (GRCm39) probably null Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Skil A G 3: 31,167,700 (GRCm39) H444R probably benign Het
Tcn2 T G 11: 3,876,017 (GRCm39) D137A possibly damaging Het
Tnks2 G A 19: 36,826,690 (GRCm39) silent Het
Tshz1 C T 18: 84,033,205 (GRCm39) G401D probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl T A 7: 103,798,138 (GRCm39) Q453L probably damaging Het
Vmn2r111 T A 17: 22,767,083 (GRCm39) K805* probably null Het
Wnt16 T G 6: 22,291,231 (GRCm39) probably benign Het
Zc3h11a A T 1: 133,550,780 (GRCm39) V665E probably damaging Het
Zfp456 A T 13: 67,520,328 (GRCm39) M63K possibly damaging Het
Zzef1 C T 11: 72,734,159 (GRCm39) Q584* probably null 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
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
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'- TTTGGCCACAAATCCCCTGG -3'
(R):5'- TTCCTGGATCACAAAACGCC -3'

Sequencing Primer
(F):5'- AAATCCCCTGGGGCCCAC -3'
(R):5'- CCAGCATCCGGGCAAAAGG -3'
Posted On 2016-10-06