Incidental Mutation 'IGL02738:Thra'
ID 305728
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # IGL02738
Quality Score
Status
Chromosome 11
Chromosomal Location 98631539-98659832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98655185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 355 (H355L)
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: H355L

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068281
Gene: ENSMUSG00000058756
AA Change: H355L

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: H355L

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099428
Gene: ENSMUSG00000058756
AA Change: H355L

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: H355L

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115323
Gene: ENSMUSG00000058756
AA Change: H355L

DomainStartEndE-ValueType
ZnF_C4 50 123 3.09e-36 SMART
HOLI 220 378 2.36e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139220
Coding Region Coverage
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,466,792 (GRCm39) probably benign Het
Akr1c21 A T 13: 4,630,300 (GRCm39) N198Y probably damaging Het
Anapc11 A T 11: 120,490,102 (GRCm39) K6I probably benign Het
Angel1 G A 12: 86,752,060 (GRCm39) L554F probably benign Het
Arhgap11a A T 2: 113,663,320 (GRCm39) *988K probably null Het
Arnt T A 3: 95,402,631 (GRCm39) probably null Het
Atp1a3 T A 7: 24,689,901 (GRCm39) D519V possibly damaging Het
Bdp1 C A 13: 100,187,861 (GRCm39) A1575S probably benign Het
Bglap G A 3: 88,291,715 (GRCm39) T3I unknown Het
Brca2 C T 5: 150,490,500 (GRCm39) P3054L probably damaging Het
Btn2a2 C A 13: 23,662,976 (GRCm39) E316* probably null Het
C1qtnf9 C T 14: 61,017,388 (GRCm39) T306I probably benign Het
Caprin2 T C 6: 148,744,360 (GRCm39) T1022A probably damaging Het
Cd109 T C 9: 78,598,581 (GRCm39) Y940H probably damaging Het
Cd300ld A G 11: 114,875,076 (GRCm39) L186S probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A T 2: 160,807,618 (GRCm39) S1865R probably benign Het
Chrna2 T C 14: 66,386,889 (GRCm39) V345A probably benign Het
Dnah1 T G 14: 31,014,597 (GRCm39) E1756A probably benign Het
Dnah3 C T 7: 119,564,720 (GRCm39) A2637T probably benign Het
Ern2 A G 7: 121,782,122 (GRCm39) F80S probably damaging Het
Ero1b A G 13: 12,619,322 (GRCm39) I439V possibly damaging Het
Eva1a T G 6: 82,048,211 (GRCm39) S30A probably benign Het
Fer1l4 A G 2: 155,887,648 (GRCm39) L516P probably benign Het
Garin2 T A 12: 78,780,989 (GRCm39) probably benign Het
Hexim2 T C 11: 103,029,103 (GRCm39) S52P probably damaging Het
Hoxb9 A T 11: 96,165,554 (GRCm39) M208L possibly damaging Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lcn10 G A 2: 25,574,032 (GRCm39) probably benign Het
Letm2 A G 8: 26,076,789 (GRCm39) I271T probably damaging Het
Lrrc34 T C 3: 30,685,441 (GRCm39) S303G possibly damaging Het
Matn2 C A 15: 34,388,885 (GRCm39) A325D probably benign Het
Mboat4 T C 8: 34,582,258 (GRCm39) L4P probably damaging Het
Mmp1a T A 9: 7,464,301 (GRCm39) probably benign Het
Naip2 T A 13: 100,325,685 (GRCm39) R74S probably benign Het
Neb G T 2: 52,133,862 (GRCm39) Q3374K probably damaging Het
Nup210l A G 3: 90,044,157 (GRCm39) E486G possibly damaging Het
Or4b13 A G 2: 90,082,699 (GRCm39) I211T possibly damaging Het
Or4k51 A C 2: 111,584,699 (GRCm39) Y35S probably damaging Het
Or5m12 A G 2: 85,735,293 (GRCm39) V35A probably benign Het
Or6c69 A T 10: 129,747,200 (GRCm39) probably benign Het
Pde8a A C 7: 80,976,090 (GRCm39) N677H probably damaging Het
Plag1 G A 4: 3,903,812 (GRCm39) Q460* probably null Het
Podnl1 A G 8: 84,858,824 (GRCm39) T550A probably benign Het
Ptpn22 A G 3: 103,781,382 (GRCm39) probably benign Het
Pycr3 A T 15: 75,790,565 (GRCm39) I98N probably damaging Het
Rtn4r A G 16: 17,969,052 (GRCm39) Y160C probably damaging Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc2a4 A G 11: 69,836,940 (GRCm39) Y43H probably damaging Het
Sorbs1 A T 19: 40,365,348 (GRCm39) L145Q probably damaging Het
Speer2 A T 16: 69,658,600 (GRCm39) S22T probably benign Het
Sugp2 G T 8: 70,696,449 (GRCm39) G474V probably damaging Het
Syt3 C T 7: 44,035,447 (GRCm39) S18L possibly damaging Het
Tacc1 T C 8: 25,691,159 (GRCm39) E48G probably damaging Het
Tdrd6 A G 17: 43,931,337 (GRCm39) V2083A probably benign Het
Tmem35b C T 4: 127,019,981 (GRCm39) Q34* probably null Het
Unk G T 11: 115,947,017 (GRCm39) G537V probably damaging Het
Usp32 T A 11: 84,974,632 (GRCm39) D92V probably damaging Het
Vmn1r209 G T 13: 22,990,290 (GRCm39) Y133* probably null Het
Vmn1r42 A G 6: 89,821,630 (GRCm39) V313A possibly damaging Het
Vnn1 A G 10: 23,780,520 (GRCm39) I503V probably benign Het
Vwa2 G A 19: 56,886,361 (GRCm39) G143R 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
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
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
Posted On 2015-04-16