Incidental Mutation 'R2972:Rxrg'
ID 255230
Institutional Source Beutler Lab
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 # R2972 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 167425953-167467192 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 167466715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 422 (R422H)
Ref Sequence ENSEMBL: ENSMUSP00000107017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015987] [ENSMUST00000111380] [ENSMUST00000111384] [ENSMUST00000111386]
AlphaFold P28705
Predicted Effect probably damaging
Transcript: ENSMUST00000015987
AA Change: R422H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015987
Gene: ENSMUSG00000015843
AA Change: R422H

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 probably damaging
Transcript: ENSMUST00000111380
AA Change: R299H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107011
Gene: ENSMUSG00000015843
AA Change: R299H

DomainStartEndE-ValueType
ZnF_C4 13 84 6.92e-39 SMART
HOLI 148 307 2.7e-50 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111384
AA Change: R422H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107015
Gene: ENSMUSG00000015843
AA Change: R422H

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 probably damaging
Transcript: ENSMUST00000111386
AA Change: R422H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107017
Gene: ENSMUSG00000015843
AA Change: R422H

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
Meta Mutation Damage Score 0.9136 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Card9 C T 2: 26,247,222 (GRCm39) R309H probably damaging Het
Clec14a T A 12: 58,314,360 (GRCm39) R421W probably damaging Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Dhrs7c T A 11: 67,706,697 (GRCm39) I285N possibly damaging Het
Golga2 A G 2: 32,195,671 (GRCm39) N752S probably benign Het
Klrb1-ps1 A G 6: 129,096,719 (GRCm39) noncoding transcript Het
Nin G A 12: 70,109,487 (GRCm39) R151C probably damaging Het
Nsun6 A C 2: 15,042,883 (GRCm39) probably null Het
Nyap2 C T 1: 81,169,485 (GRCm39) R81* probably null Het
Or1n2 G A 2: 36,797,416 (GRCm39) V153M probably benign Het
Or4a69 G T 2: 89,313,120 (GRCm39) R120S possibly damaging Het
Pkhd1l1 T A 15: 44,410,644 (GRCm39) M2717K possibly damaging Het
Ralgapa1 T C 12: 55,867,540 (GRCm39) K5E possibly damaging Het
Rnf130 T A 11: 49,984,627 (GRCm39) L309* probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Serpinb9e T A 13: 33,439,126 (GRCm39) V184E probably benign Het
Slc10a5 A T 3: 10,399,517 (GRCm39) I381N probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Ubr4 T C 4: 139,133,847 (GRCm39) Y748H probably benign Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A probably damaging Het
Vmn2r77 T C 7: 86,452,893 (GRCm39) Y537H probably benign 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
IGL03144:Rxrg APN 1 167,426,327 (GRCm39) missense possibly damaging 0.53
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
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
Predicted Primers PCR Primer
(F):5'- AGCTCTCTGGGTTGCAATC -3'
(R):5'- GCATCACATTTTGGGGACAGG -3'

Sequencing Primer
(F):5'- TCTGGGTTGCAATCCTCCGG -3'
(R):5'- AGGGTAGGGCCACACACAC -3'
Posted On 2014-12-29