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, RXR alpha 1, 9530071D11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01941
Quality Score
Status
Chromosome 2
Chromosomal Location 27676440-27762957 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27754241 bp (GRCm38)
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: 24,044,801 L123Q probably benign Het
Abca2 C T 2: 25,443,095 S1602F probably benign Het
Abcc9 C A 6: 142,605,904 C1191F probably damaging Het
Adam3 G T 8: 24,681,446 probably benign Het
Aldh1l1 G T 6: 90,562,695 G202V probably damaging Het
Ankrd46 T C 15: 36,485,937 N57D possibly damaging Het
Asic1 A T 15: 99,699,101 H548L possibly damaging Het
Atpaf2 A G 11: 60,403,898 I233T probably benign Het
Ccdc129 A G 6: 55,968,045 R584G probably benign Het
Ccdc185 G T 1: 182,748,204 Q307K probably benign Het
Cep120 T C 18: 53,723,148 D399G probably benign Het
Cnn2 G A 10: 79,992,554 V122M probably benign Het
Dgkd T C 1: 87,924,559 S472P probably damaging Het
Dock5 A C 14: 67,812,232 I701S probably damaging Het
Efl1 A G 7: 82,697,976 E570G probably benign Het
Eln G A 5: 134,718,170 probably benign Het
Fat2 A G 11: 55,312,005 V81A probably benign Het
Fbxw21 T G 9: 109,148,156 I162L probably benign Het
Fhl2 G A 1: 43,131,672 Q161* probably null Het
Gabrg2 A G 11: 41,971,721 Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm7714 A G 5: 88,282,442 S66G probably benign Het
Grik5 A T 7: 25,065,182 I152N probably damaging Het
H2-Ab1 A T 17: 34,267,434 K156* probably null Het
Hecw1 T C 13: 14,316,310 Y699C probably benign Het
Ipo9 A C 1: 135,408,073 V202G possibly damaging Het
Jmjd6 A T 11: 116,841,358 probably null Het
Lama5 A G 2: 180,192,392 I1416T possibly damaging Het
Matn1 T C 4: 130,952,261 probably benign Het
Mavs T C 2: 131,246,605 V443A probably damaging Het
Mpdz A T 4: 81,286,387 S1798R possibly damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Olfr1251 A T 2: 89,667,468 C139* probably null Het
Otud7b G T 3: 96,155,459 G672C probably benign Het
Palld T A 8: 61,535,700 T572S probably benign Het
Pde6b T A 5: 108,423,036 V379E probably benign Het
Peak1 A G 9: 56,258,775 V623A probably damaging Het
Prr12 C T 7: 45,048,659 probably benign Het
Slc11a1 C T 1: 74,377,179 A55V probably damaging Het
Slitrk3 T C 3: 73,051,071 N123D possibly damaging Het
Spcs1 A G 14: 31,000,872 M82T probably damaging Het
Sspo A G 6: 48,495,182 E113G probably benign Het
Syne2 A G 12: 75,967,220 K3062E probably benign Het
Traf3ip2 T C 10: 39,634,660 S310P probably benign Het
Ubp1 T C 9: 113,956,758 L167S probably damaging Het
Vmn1r196 T A 13: 22,293,699 C169* probably null Het
Vmn1r223 T A 13: 23,250,237 F334I possibly damaging Het
Vmn2r10 A T 5: 108,995,954 I710N probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr26 A G 1: 181,211,070 probably benign Het
Wnt7a A G 6: 91,394,663 F106L probably benign Het
Zfp940 C T 7: 29,846,870 V34M probably damaging Het
Other mutations in Rxra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:Rxra APN 2 27759645 missense probably damaging 1.00
pinkie UTSW 2 27752334 missense probably damaging 0.98
R0265:Rxra UTSW 2 27752430 missense probably damaging 1.00
R0578:Rxra UTSW 2 27759570 missense probably damaging 1.00
R1555:Rxra UTSW 2 27748678 missense probably benign 0.00
R1775:Rxra UTSW 2 27756244 missense probably damaging 1.00
R3725:Rxra UTSW 2 27754277 missense probably damaging 1.00
R3756:Rxra UTSW 2 27741911 missense probably damaging 1.00
R3804:Rxra UTSW 2 27756260 missense probably damaging 1.00
R3965:Rxra UTSW 2 27752306 splice site probably benign
R4490:Rxra UTSW 2 27741195 missense probably damaging 0.99
R4898:Rxra UTSW 2 27741183 missense probably damaging 1.00
R5154:Rxra UTSW 2 27757868 critical splice donor site probably null
R5651:Rxra UTSW 2 27737341 missense probably benign 0.25
R6880:Rxra UTSW 2 27748656 missense possibly damaging 0.64
R6913:Rxra UTSW 2 27741174 missense probably damaging 1.00
R7404:Rxra UTSW 2 27741854 missense probably damaging 0.99
R8324:Rxra UTSW 2 27741183 missense probably damaging 1.00
R9098:Rxra UTSW 2 27748744 missense possibly damaging 0.50
R9200:Rxra UTSW 2 27737484 missense possibly damaging 0.64
R9356:Rxra UTSW 2 27759663 missense probably damaging 1.00
Posted On 2014-05-07