Incidental Mutation 'R1135:Trhr2'
ID 94925
Institutional Source Beutler Lab
Gene Symbol Trhr2
Ensembl Gene ENSMUSG00000039079
Gene Name thyrotropin releasing hormone receptor 2
Synonyms TRH-R2
MMRRC Submission 039208-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R1135 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 123083706-123087485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123085372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 204 (L204P)
Ref Sequence ENSEMBL: ENSMUSP00000042575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044123] [ENSMUST00000127664]
AlphaFold Q9ERT2
Predicted Effect probably damaging
Transcript: ENSMUST00000044123
AA Change: L204P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042575
Gene: ENSMUSG00000039079
AA Change: L204P

DomainStartEndE-ValueType
Pfam:7tm_4 29 184 1e-12 PFAM
Pfam:7TM_GPCR_Srv 29 325 2e-7 PFAM
Pfam:7TM_GPCR_Srx 30 165 4.8e-7 PFAM
Pfam:7TM_GPCR_Srsx 33 323 5.6e-10 PFAM
Pfam:7tm_1 39 308 5.4e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik G T 4: 148,029,115 (GRCm39) V362L probably benign Het
Ak5 T A 3: 152,359,299 (GRCm39) L166F probably damaging Het
Camk2a T A 18: 61,090,468 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cr2 A T 1: 194,839,498 (GRCm39) I643N probably damaging Het
Fibin G A 2: 110,192,567 (GRCm39) H192Y probably benign Het
Ints11 T C 4: 155,972,384 (GRCm39) probably null Het
Lct A G 1: 128,221,861 (GRCm39) probably null Het
Msantd2 A G 9: 37,434,008 (GRCm39) I83V probably damaging Het
Myh10 A T 11: 68,698,023 (GRCm39) M1622L probably benign Het
Nkx2-4 G T 2: 146,926,328 (GRCm39) S178* probably null Het
Nox4 C T 7: 86,972,997 (GRCm39) P335S probably damaging Het
Rab3gap2 G A 1: 185,008,140 (GRCm39) R1085Q possibly damaging Het
Skint10 C T 4: 112,568,660 (GRCm39) W352* probably null Het
Srsf4 T G 4: 131,627,380 (GRCm39) probably benign Het
Sytl1 C T 4: 132,984,281 (GRCm39) G274D probably damaging Het
Tbck T A 3: 132,437,952 (GRCm39) I459N probably damaging Het
Vps13d T C 4: 144,882,159 (GRCm39) T1145A probably benign Het
Wnk2 G A 13: 49,230,034 (GRCm39) P830L probably damaging Het
Other mutations in Trhr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03070:Trhr2 APN 8 123,085,342 (GRCm39) missense probably benign
IGL03387:Trhr2 APN 8 123,085,220 (GRCm39) intron probably benign
IGL03408:Trhr2 APN 8 123,085,534 (GRCm39) missense probably damaging 1.00
R0546:Trhr2 UTSW 8 123,085,228 (GRCm39) critical splice donor site probably null
R1377:Trhr2 UTSW 8 123,087,327 (GRCm39) missense probably damaging 1.00
R1656:Trhr2 UTSW 8 123,084,185 (GRCm39) missense probably damaging 1.00
R2055:Trhr2 UTSW 8 123,085,532 (GRCm39) missense probably damaging 1.00
R4030:Trhr2 UTSW 8 123,087,438 (GRCm39) start codon destroyed probably null 0.01
R4998:Trhr2 UTSW 8 123,085,511 (GRCm39) missense probably benign 0.04
R5074:Trhr2 UTSW 8 123,084,110 (GRCm39) missense probably benign 0.01
R6175:Trhr2 UTSW 8 123,084,118 (GRCm39) missense probably damaging 0.99
R7048:Trhr2 UTSW 8 123,085,418 (GRCm39) missense probably damaging 1.00
R7168:Trhr2 UTSW 8 123,087,276 (GRCm39) missense probably damaging 1.00
R7185:Trhr2 UTSW 8 123,087,396 (GRCm39) missense probably benign 0.26
R7284:Trhr2 UTSW 8 123,087,114 (GRCm39) missense probably damaging 1.00
R7314:Trhr2 UTSW 8 123,085,489 (GRCm39) missense possibly damaging 0.64
R7644:Trhr2 UTSW 8 123,084,061 (GRCm39) missense possibly damaging 0.93
R7891:Trhr2 UTSW 8 123,084,083 (GRCm39) missense probably damaging 0.99
R8715:Trhr2 UTSW 8 123,085,619 (GRCm39) missense probably damaging 1.00
R8840:Trhr2 UTSW 8 123,085,621 (GRCm39) missense probably damaging 1.00
Z1176:Trhr2 UTSW 8 123,085,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAACCTGCTTCCTGGAGGACATTG -3'
(R):5'- CAGCTCAGCCATTATCGCCTAGAC -3'

Sequencing Primer
(F):5'- TTGAGCTCTTGGACCTAGAGCA -3'
(R):5'- TTAGGAGCCAACATGCCTTG -3'
Posted On 2014-01-05