Incidental Mutation 'IGL03144:Rxrg'
ID 410807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rxrg
Ensembl Gene ENSMUSG00000015843
Gene Name retinoid X receptor gamma
Synonyms Nr2b3
Accession Numbers
Essential gene? Probably essential (E-score: 0.826) question?
Stock # IGL03144
Quality Score
Status
Chromosome 1
Chromosomal Location 167425953-167467192 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 167426327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 3 (G3R)
Ref Sequence ENSEMBL: ENSMUSP00000107017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015987] [ENSMUST00000111384] [ENSMUST00000111386]
AlphaFold P28705
Predicted Effect possibly damaging
Transcript: ENSMUST00000015987
AA Change: G3R

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000015987
Gene: ENSMUSG00000015843
AA Change: G3R

DomainStartEndE-ValueType
Pfam:Nuc_recep-AF1 25 134 1.2e-39 PFAM
ZnF_C4 136 207 6.92e-39 SMART
HOLI 271 430 2.7e-50 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111384
AA Change: G3R

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107015
Gene: ENSMUSG00000015843
AA Change: G3R

DomainStartEndE-ValueType
Pfam:Nuc_recep-AF1 24 134 3.4e-35 PFAM
ZnF_C4 136 207 6.92e-39 SMART
HOLI 271 430 2.7e-50 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111386
AA Change: G3R

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107017
Gene: ENSMUSG00000015843
AA Change: G3R

DomainStartEndE-ValueType
Pfam:Nuc_recep-AF1 24 134 3.4e-35 PFAM
ZnF_C4 136 207 6.92e-39 SMART
HOLI 271 430 2.7e-50 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
PHENOTYPE: Targeted disruption of exon 2 causes a 25% reduction of neurons in the striatum and may lead to premature death and altered responses to the administration of dopamine antagonists on some genetic backgrounds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C A 17: 24,600,938 (GRCm39) Q451K probably benign Het
Acly A T 11: 100,405,909 (GRCm39) D294E possibly damaging Het
Arid3a C T 10: 79,782,316 (GRCm39) probably benign Het
Ascc3 T C 10: 50,643,539 (GRCm39) V1830A probably benign Het
Atp6v1b1 T C 6: 83,735,333 (GRCm39) V467A probably benign Het
Ccdc171 A T 4: 83,736,327 (GRCm39) I1233L probably damaging Het
Ccdc74a C A 16: 17,466,730 (GRCm39) Q146K possibly damaging Het
Cdh26 A G 2: 178,109,967 (GRCm39) D420G probably damaging Het
Ceacam20 T C 7: 19,705,444 (GRCm39) V145A possibly damaging Het
Cmya5 C A 13: 93,227,376 (GRCm39) A2571S probably damaging Het
Cog2 T C 8: 125,267,763 (GRCm39) S360P probably damaging Het
Col26a1 G T 5: 136,794,202 (GRCm39) T132N probably damaging Het
Col6a2 T A 10: 76,450,259 (GRCm39) H224L probably benign Het
Cpm C T 10: 117,519,319 (GRCm39) S409L probably benign Het
Dock4 G T 12: 40,742,906 (GRCm39) probably benign Het
Dpy19l2 T A 9: 24,557,603 (GRCm39) N391Y possibly damaging Het
Exosc9 G A 3: 36,608,284 (GRCm39) G126D probably damaging Het
Eya3 T C 4: 132,420,453 (GRCm39) S256P probably benign Het
Fat3 T C 9: 16,286,541 (GRCm39) D994G probably damaging Het
Fat4 A G 3: 39,011,008 (GRCm39) Q2036R possibly damaging Het
Fryl T C 5: 73,258,798 (GRCm39) Q662R probably null Het
Gm13271 A G 4: 88,673,636 (GRCm39) R178G probably benign Het
Gpr165 T A X: 95,760,560 (GRCm39) L279Q probably damaging Het
Htr1b A G 9: 81,513,998 (GRCm39) L203P probably damaging Het
Kcnb2 T C 1: 15,780,112 (GRCm39) L328P probably damaging Het
Klhl26 C T 8: 70,905,214 (GRCm39) R198H probably damaging Het
Nhsl2 A G X: 101,123,115 (GRCm39) R973G possibly damaging Het
Nmi A T 2: 51,842,546 (GRCm39) F182Y probably damaging Het
Nop2 T A 6: 125,114,475 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Ooep G T 9: 78,285,289 (GRCm39) A109E possibly damaging Het
Or1j21 A G 2: 36,684,093 (GRCm39) T282A probably benign Het
Pan3 T C 5: 147,387,591 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,467,459 (GRCm39) N127D probably damaging Het
Rabgap1 G A 2: 37,430,544 (GRCm39) R695H probably damaging Het
Slc17a3 T C 13: 24,030,423 (GRCm39) M178T probably benign Het
Slc39a8 A G 3: 135,589,971 (GRCm39) E287G probably benign Het
Slc44a5 G T 3: 153,949,177 (GRCm39) D217Y possibly damaging Het
Slc4a10 G T 2: 62,080,810 (GRCm39) V346L probably benign Het
Slc9a4 T C 1: 40,651,362 (GRCm39) Y547H probably damaging Het
St6galnac3 A C 3: 152,911,164 (GRCm39) Y266D probably damaging Het
Stard6 A T 18: 70,609,182 (GRCm39) Y3F possibly damaging Het
Stk25 C A 1: 93,556,858 (GRCm39) L53F probably damaging Het
Tep1 A T 14: 51,081,474 (GRCm39) probably benign Het
Tmem151a T A 19: 5,135,400 (GRCm39) M1L probably benign Het
Trim10 T C 17: 37,187,740 (GRCm39) S319P probably damaging Het
Trmt44 G T 5: 35,721,766 (GRCm39) P466T probably benign Het
Unc79 T C 12: 103,008,401 (GRCm39) I256T probably damaging Het
Vmn2r125 G T 4: 156,702,314 (GRCm39) L33F possibly damaging Het
Other mutations in Rxrg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Rxrg APN 1 167,454,857 (GRCm39) splice site probably benign
IGL01767:Rxrg APN 1 167,454,884 (GRCm39) missense probably damaging 1.00
IGL02126:Rxrg APN 1 167,462,029 (GRCm39) missense probably damaging 0.98
gamma UTSW 1 167,466,808 (GRCm39) missense possibly damaging 0.55
Xray UTSW 1 167,458,788 (GRCm39) splice site probably benign
R0482:Rxrg UTSW 1 167,458,606 (GRCm39) missense possibly damaging 0.94
R0548:Rxrg UTSW 1 167,458,788 (GRCm39) splice site probably benign
R0734:Rxrg UTSW 1 167,455,013 (GRCm39) missense probably damaging 1.00
R1294:Rxrg UTSW 1 167,441,470 (GRCm39) missense probably benign
R1843:Rxrg UTSW 1 167,426,321 (GRCm39) start codon destroyed probably benign 0.02
R2093:Rxrg UTSW 1 167,454,893 (GRCm39) missense probably damaging 1.00
R2972:Rxrg UTSW 1 167,466,715 (GRCm39) missense probably damaging 1.00
R2974:Rxrg UTSW 1 167,466,715 (GRCm39) missense probably damaging 1.00
R3177:Rxrg UTSW 1 167,463,269 (GRCm39) missense possibly damaging 0.64
R3277:Rxrg UTSW 1 167,463,269 (GRCm39) missense possibly damaging 0.64
R4484:Rxrg UTSW 1 167,452,596 (GRCm39) missense probably benign 0.03
R4721:Rxrg UTSW 1 167,452,621 (GRCm39) missense probably damaging 1.00
R5267:Rxrg UTSW 1 167,463,335 (GRCm39) missense probably damaging 0.98
R5323:Rxrg UTSW 1 167,452,573 (GRCm39) missense probably benign
R5858:Rxrg UTSW 1 167,454,925 (GRCm39) missense probably damaging 1.00
R5921:Rxrg UTSW 1 167,466,808 (GRCm39) missense possibly damaging 0.55
R6142:Rxrg UTSW 1 167,460,191 (GRCm39) missense possibly damaging 0.69
R6370:Rxrg UTSW 1 167,462,006 (GRCm39) missense probably damaging 1.00
R6595:Rxrg UTSW 1 167,454,905 (GRCm39) missense probably damaging 1.00
R6702:Rxrg UTSW 1 167,441,374 (GRCm39) missense probably benign
R7133:Rxrg UTSW 1 167,458,678 (GRCm39) missense probably benign 0.00
R7934:Rxrg UTSW 1 167,454,927 (GRCm39) missense probably damaging 0.97
R8984:Rxrg UTSW 1 167,462,005 (GRCm39) missense possibly damaging 0.91
R9340:Rxrg UTSW 1 167,458,890 (GRCm39) missense possibly damaging 0.61
Posted On 2016-08-02