Incidental Mutation 'IGL01941:Rxra'
ID 181169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rxra
Ensembl Gene ENSMUSG00000015846
Gene Name retinoid X receptor alpha
Synonyms RXRalpha1, 9530071D11Rik, RXR alpha 1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01941
Quality Score
Status
Chromosome 2
Chromosomal Location 27566452-27652969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27644253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 315 (I315T)
Ref Sequence ENSEMBL: ENSMUSP00000133044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077257] [ENSMUST00000100251] [ENSMUST00000113934] [ENSMUST00000166775]
AlphaFold P28700
PDB Structure CRYSTAL STRUCTURE OF A HETERODIMERIC COMPLEX OF RAR AND RXR LIGAND-BINDING DOMAINS [X-RAY DIFFRACTION]
Crystal Structure of the RARbeta/RXRalpha Ligand Binding Domain Heterodimer in Complex with 9-cis Retinoic Acid and a Fragment of the TRAP220 Coactivator [X-RAY DIFFRACTION]
Crystal structure of a mixed agonist-bound RAR-alpha and antagonist-bound RXR-alpha heterodimer ligand binding domains [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000077257
AA Change: I315T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076491
Gene: ENSMUSG00000015846
AA Change: I315T

DomainStartEndE-ValueType
Pfam:Nuc_recep-AF1 18 132 4.2e-42 PFAM
ZnF_C4 137 208 1.76e-40 SMART
Blast:HOLI 233 265 1e-8 BLAST
HOLI 275 434 1.62e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100251
AA Change: I287T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097822
Gene: ENSMUSG00000015846
AA Change: I287T

DomainStartEndE-ValueType
Pfam:Nuc_recep-AF1 1 104 1.8e-38 PFAM
ZnF_C4 109 180 1.76e-40 SMART
Blast:HOLI 205 237 1e-8 BLAST
HOLI 247 406 1.62e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113934
AA Change: I287T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109567
Gene: ENSMUSG00000015846
AA Change: I287T

DomainStartEndE-ValueType
Pfam:Nuc_recep-AF1 1 104 1.8e-38 PFAM
ZnF_C4 109 180 1.76e-40 SMART
Blast:HOLI 205 237 1e-8 BLAST
HOLI 247 406 1.62e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166775
AA Change: I315T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133044
Gene: ENSMUSG00000015846
AA Change: I315T

DomainStartEndE-ValueType
Pfam:Nuc_recep-AF1 17 132 6.5e-41 PFAM
ZnF_C4 137 208 1.76e-40 SMART
Blast:HOLI 233 265 1e-8 BLAST
HOLI 275 434 1.62e-53 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Null embryos have multiple organ defects and die of cardiac failure by E14.5. Gene ablation in liver, prostate, fat or epidermis tissue-specifically affects development, function and/or neoplasia. Hypomorphic mutants develop alopecia, progressively severe dermal cysts and late corneal opacity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,094,802 (GRCm39) L123Q probably benign Het
Abca2 C T 2: 25,333,107 (GRCm39) S1602F probably benign Het
Abcc9 C A 6: 142,551,630 (GRCm39) C1191F probably damaging Het
Adam3 G T 8: 25,171,462 (GRCm39) probably benign Het
Aldh1l1 G T 6: 90,539,677 (GRCm39) G202V probably damaging Het
Ankrd46 T C 15: 36,486,083 (GRCm39) N57D possibly damaging Het
Asic1 A T 15: 99,596,982 (GRCm39) H548L possibly damaging Het
Atpaf2 A G 11: 60,294,724 (GRCm39) I233T probably benign Het
Ccdc185 G T 1: 182,575,769 (GRCm39) Q307K probably benign Het
Cep120 T C 18: 53,856,220 (GRCm39) D399G probably benign Het
Cnn2 G A 10: 79,828,388 (GRCm39) V122M probably benign Het
Dgkd T C 1: 87,852,281 (GRCm39) S472P probably damaging Het
Dock5 A C 14: 68,049,681 (GRCm39) I701S probably damaging Het
Efl1 A G 7: 82,347,184 (GRCm39) E570G probably benign Het
Eln G A 5: 134,747,024 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,831 (GRCm39) V81A probably benign Het
Fbxw21 T G 9: 108,977,224 (GRCm39) I162L probably benign Het
Fhl2 G A 1: 43,170,832 (GRCm39) Q161* probably null Het
Gabrg2 A G 11: 41,862,548 (GRCm39) Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grik5 A T 7: 24,764,607 (GRCm39) I152N probably damaging Het
H2-Ab1 A T 17: 34,486,408 (GRCm39) K156* probably null Het
Hecw1 T C 13: 14,490,895 (GRCm39) Y699C probably benign Het
Ipo9 A C 1: 135,335,811 (GRCm39) V202G possibly damaging Het
Itprid1 A G 6: 55,945,030 (GRCm39) R584G probably benign Het
Jmjd6 A T 11: 116,732,184 (GRCm39) probably null Het
Lama5 A G 2: 179,834,185 (GRCm39) I1416T possibly damaging Het
Matn1 T C 4: 130,679,572 (GRCm39) probably benign Het
Mavs T C 2: 131,088,525 (GRCm39) V443A probably damaging Het
Mpdz A T 4: 81,204,624 (GRCm39) S1798R possibly damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Or4a78 A T 2: 89,497,812 (GRCm39) C139* probably null Het
Otud7b G T 3: 96,062,776 (GRCm39) G672C probably benign Het
Palld T A 8: 61,988,734 (GRCm39) T572S probably benign Het
Pde6b T A 5: 108,570,902 (GRCm39) V379E probably benign Het
Peak1 A G 9: 56,166,059 (GRCm39) V623A probably damaging Het
Prr12 C T 7: 44,698,083 (GRCm39) probably benign Het
Slc11a1 C T 1: 74,416,338 (GRCm39) A55V probably damaging Het
Slitrk3 T C 3: 72,958,404 (GRCm39) N123D possibly damaging Het
Smr2l A G 5: 88,430,301 (GRCm39) S66G probably benign Het
Spcs1 A G 14: 30,722,829 (GRCm39) M82T probably damaging Het
Sspo A G 6: 48,472,116 (GRCm39) E113G probably benign Het
Syne2 A G 12: 76,013,994 (GRCm39) K3062E probably benign Het
Traf3ip2 T C 10: 39,510,656 (GRCm39) S310P probably benign Het
Ubp1 T C 9: 113,785,826 (GRCm39) L167S probably damaging Het
Vmn1r196 T A 13: 22,477,869 (GRCm39) C169* probably null Het
Vmn1r223 T A 13: 23,434,407 (GRCm39) F334I possibly damaging Het
Vmn2r10 A T 5: 109,143,820 (GRCm39) I710N probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdr26 A G 1: 181,038,635 (GRCm39) probably benign Het
Wnt7a A G 6: 91,371,645 (GRCm39) F106L probably benign Het
Zfp940 C T 7: 29,546,295 (GRCm39) V34M probably damaging Het
Other mutations in Rxra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:Rxra APN 2 27,649,657 (GRCm39) missense probably damaging 1.00
pinkie UTSW 2 27,642,346 (GRCm39) missense probably damaging 0.98
R0265:Rxra UTSW 2 27,642,442 (GRCm39) missense probably damaging 1.00
R0578:Rxra UTSW 2 27,649,582 (GRCm39) missense probably damaging 1.00
R1555:Rxra UTSW 2 27,638,690 (GRCm39) missense probably benign 0.00
R1775:Rxra UTSW 2 27,646,256 (GRCm39) missense probably damaging 1.00
R3725:Rxra UTSW 2 27,644,289 (GRCm39) missense probably damaging 1.00
R3756:Rxra UTSW 2 27,631,923 (GRCm39) missense probably damaging 1.00
R3804:Rxra UTSW 2 27,646,272 (GRCm39) missense probably damaging 1.00
R3965:Rxra UTSW 2 27,642,318 (GRCm39) splice site probably benign
R4490:Rxra UTSW 2 27,631,207 (GRCm39) missense probably damaging 0.99
R4898:Rxra UTSW 2 27,631,195 (GRCm39) missense probably damaging 1.00
R5154:Rxra UTSW 2 27,647,880 (GRCm39) critical splice donor site probably null
R5651:Rxra UTSW 2 27,627,353 (GRCm39) missense probably benign 0.25
R6880:Rxra UTSW 2 27,638,668 (GRCm39) missense possibly damaging 0.64
R6913:Rxra UTSW 2 27,631,186 (GRCm39) missense probably damaging 1.00
R7404:Rxra UTSW 2 27,631,866 (GRCm39) missense probably damaging 0.99
R8324:Rxra UTSW 2 27,631,195 (GRCm39) missense probably damaging 1.00
R9098:Rxra UTSW 2 27,638,756 (GRCm39) missense possibly damaging 0.50
R9200:Rxra UTSW 2 27,627,496 (GRCm39) missense possibly damaging 0.64
R9356:Rxra UTSW 2 27,649,675 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07