Incidental Mutation 'R0033:Thra'
ID 201272
Institutional Source Beutler Lab
Gene Symbol Thra
Ensembl Gene ENSMUSG00000058756
Gene Name thyroid hormone receptor alpha
Synonyms Rvr, T3Ralpha, Nr1a1, Thra1, Erba, T3R[a], 6430529J03Rik, TR alpha 2, c-erbAalpha, Thra2, TR alpha 1
MMRRC Submission 038327-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R0033 (G1)
Quality Score 73
Status Validated
Chromosome 11
Chromosomal Location 98631539-98659832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98655178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 353 (V353I)
Ref Sequence ENSEMBL: ENSMUSP00000099428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064187] [ENSMUST00000064941] [ENSMUST00000103139] [ENSMUST00000124072]
AlphaFold P63058
Predicted Effect probably benign
Transcript: ENSMUST00000064187
AA Change: V353I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000068281
Gene: ENSMUSG00000058756
AA Change: V353I

DomainStartEndE-ValueType
ZnF_C4 50 123 3.09e-36 SMART
HOLI 220 378 1.43e-31 SMART
low complexity region 461 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064941
SMART Domains Protein: ENSMUSP00000069505
Gene: ENSMUSG00000020889

DomainStartEndE-ValueType
low complexity region 14 34 N/A INTRINSIC
low complexity region 70 94 N/A INTRINSIC
ZnF_C4 130 202 5.54e-38 SMART
low complexity region 240 263 N/A INTRINSIC
PDB:3N00|A 282 361 2e-21 PDB
HOLI 442 600 4.2e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103139
AA Change: V353I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099428
Gene: ENSMUSG00000058756
AA Change: V353I

DomainStartEndE-ValueType
ZnF_C4 50 123 3.09e-36 SMART
HOLI 220 378 7.26e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124072
AA Change: V353I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115323
Gene: ENSMUSG00000058756
AA Change: V353I

DomainStartEndE-ValueType
ZnF_C4 50 123 3.09e-36 SMART
HOLI 220 378 2.36e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139220
Meta Mutation Damage Score 0.0601 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: The protein encoded by this gene is one of several nuclear hormone receptors that bind thyroid hormones such as triiodothyronine and thyroxine with high affinity. The encoded protein is a transcription factor that can activate or repress transcription. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations in this gene result in diverse phenotypes depending on the location and severity of the mutation. Observed phenotypes may include alterations in thyroid physiology, intestinal remodeling, cerebellum development, bone growth, cardiac function, thermogenesis, and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,115,794 (GRCm39) F110L probably damaging Het
Agr3 C T 12: 35,978,329 (GRCm39) T14M possibly damaging Het
Ankib1 A C 5: 3,819,588 (GRCm39) D110E possibly damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
Cacna1d T A 14: 29,827,446 (GRCm39) Q993L probably damaging Het
Cdkn3 C A 14: 47,006,329 (GRCm39) Y141* probably null Het
Ceacam12 T G 7: 17,803,385 (GRCm39) probably benign Het
Celf1 T C 2: 90,831,798 (GRCm39) probably benign Het
Col6a3 A G 1: 90,729,967 (GRCm39) S1780P probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Ctss G A 3: 95,452,888 (GRCm39) probably benign Het
Emilin2 G T 17: 71,582,009 (GRCm39) T239K probably benign Het
Erp44 T C 4: 48,241,289 (GRCm39) probably benign Het
Fbxl4 T C 4: 22,377,017 (GRCm39) V151A probably damaging Het
Fer1l4 G A 2: 155,866,026 (GRCm39) probably benign Het
Gm43302 T C 5: 105,424,710 (GRCm39) D310G probably benign Het
Gstk1 A G 6: 42,223,737 (GRCm39) probably benign Het
Hapln1 A T 13: 89,749,932 (GRCm39) Q159L probably benign Het
Hibch A G 1: 52,944,610 (GRCm39) K296R probably null Het
Katnip T G 7: 125,360,999 (GRCm39) V103G possibly damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kdm7a A T 6: 39,142,131 (GRCm39) Y382* probably null Het
Kirrel3 A G 9: 34,912,259 (GRCm39) I208V probably benign Het
Klc4 A T 17: 46,946,359 (GRCm39) C489S probably damaging Het
Lrrc8a G T 2: 30,145,357 (GRCm39) C57F probably damaging Het
Ltbp1 A G 17: 75,583,504 (GRCm39) N435D possibly damaging Het
Macc1 T A 12: 119,410,076 (GRCm39) N281K probably benign Het
Myo16 A T 8: 10,420,955 (GRCm39) Y265F probably damaging Het
Myoc G A 1: 162,476,010 (GRCm39) G238E probably damaging Het
Nlrp12 A C 7: 3,289,037 (GRCm39) S492A probably damaging Het
Obscn A G 11: 58,885,572 (GRCm39) probably benign Het
Oplah T A 15: 76,181,334 (GRCm39) Q1202L probably benign Het
Or5p62 G T 7: 107,771,134 (GRCm39) D272E probably benign Het
Or9s23 A G 1: 92,500,982 (GRCm39) T30A probably benign Het
Ppargc1b G A 18: 61,440,765 (GRCm39) R718W probably damaging Het
Pramel19 A T 4: 101,798,881 (GRCm39) Y284F probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rnf225 T C 7: 12,662,085 (GRCm39) L88P probably damaging Het
Slc12a1 A G 2: 125,055,929 (GRCm39) D820G probably benign Het
Slc12a4 G T 8: 106,674,111 (GRCm39) probably benign Het
Slx4 C T 16: 3,805,864 (GRCm39) A72T probably benign Het
Snrnp200 T C 2: 127,079,983 (GRCm39) I1920T probably damaging Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Sv2b A G 7: 74,767,489 (GRCm39) F636L probably benign Het
Tdp1 C T 12: 99,901,311 (GRCm39) T531I probably benign Het
Tm7sf2 A G 19: 6,116,452 (GRCm39) probably benign Het
Tmx4 A T 2: 134,442,918 (GRCm39) probably null Het
Tnfrsf12a A G 17: 23,895,119 (GRCm39) probably null Het
Trav6n-5 T A 14: 53,342,368 (GRCm39) M14K probably benign Het
Ttn T A 2: 76,572,624 (GRCm39) I26090F probably damaging Het
Tut1 G T 19: 8,940,123 (GRCm39) R369L probably benign Het
Uba5 T A 9: 103,931,347 (GRCm39) T241S probably benign Het
Unc13d T C 11: 115,959,991 (GRCm39) T597A probably benign Het
Vmn1r58 A T 7: 5,413,387 (GRCm39) I281K probably damaging Het
Vmn1r59 A G 7: 5,457,433 (GRCm39) V109A probably benign Het
Xdh T A 17: 74,214,627 (GRCm39) M773L probably benign Het
Zfp64 A T 2: 168,767,635 (GRCm39) I659N possibly damaging Het
Other mutations in Thra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Thra APN 11 98,653,754 (GRCm39) missense possibly damaging 0.90
IGL01544:Thra APN 11 98,647,754 (GRCm39) missense possibly damaging 0.46
IGL02377:Thra APN 11 98,652,742 (GRCm39) missense probably damaging 1.00
IGL02738:Thra APN 11 98,655,185 (GRCm39) missense probably benign 0.40
IGL03111:Thra APN 11 98,651,855 (GRCm39) unclassified probably benign
California UTSW 11 98,655,134 (GRCm39) missense probably damaging 0.97
Crissal UTSW 11 98,653,777 (GRCm39) missense probably benign 0.20
R0033_Thra_272 UTSW 11 98,655,178 (GRCm39) missense probably benign 0.00
R0033:Thra UTSW 11 98,655,178 (GRCm39) missense probably benign 0.00
R0959:Thra UTSW 11 98,644,455 (GRCm39) missense possibly damaging 0.94
R1659:Thra UTSW 11 98,647,805 (GRCm39) missense probably damaging 0.99
R1839:Thra UTSW 11 98,646,969 (GRCm39) missense probably benign 0.01
R1859:Thra UTSW 11 98,646,977 (GRCm39) missense probably damaging 0.98
R1935:Thra UTSW 11 98,653,899 (GRCm39) splice site probably benign
R1956:Thra UTSW 11 98,654,567 (GRCm39) missense probably benign 0.03
R4584:Thra UTSW 11 98,655,310 (GRCm39) missense probably benign 0.42
R4782:Thra UTSW 11 98,646,990 (GRCm39) missense probably benign 0.01
R5414:Thra UTSW 11 98,651,783 (GRCm39) missense probably benign 0.34
R5790:Thra UTSW 11 98,653,777 (GRCm39) missense probably benign 0.20
R5927:Thra UTSW 11 98,654,514 (GRCm39) missense possibly damaging 0.56
R7207:Thra UTSW 11 98,651,802 (GRCm39) missense probably damaging 1.00
R7234:Thra UTSW 11 98,654,544 (GRCm39) missense probably damaging 1.00
R7307:Thra UTSW 11 98,655,134 (GRCm39) missense probably damaging 0.97
R7825:Thra UTSW 11 98,653,774 (GRCm39) missense probably benign 0.14
R7875:Thra UTSW 11 98,659,257 (GRCm39) missense probably damaging 0.98
R8385:Thra UTSW 11 98,659,177 (GRCm39) missense probably benign 0.40
R8669:Thra UTSW 11 98,654,476 (GRCm39) missense possibly damaging 0.89
R8955:Thra UTSW 11 98,644,449 (GRCm39) missense possibly damaging 0.92
R9549:Thra UTSW 11 98,653,772 (GRCm39) missense probably benign 0.14
R9615:Thra UTSW 11 98,651,715 (GRCm39) missense probably damaging 1.00
Z1177:Thra UTSW 11 98,644,307 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GGCTGTGCTGCTAATGTCAACAGG -3'
(R):5'- TCCTCAAAGACCTCCAGGAAGAGTG -3'

Sequencing Primer
(F):5'- GATTGCTTCATGGCCGC -3'
(R):5'- TGGGGGGAAGAGTTCGG -3'
Posted On 2014-05-27