Incidental Mutation 'IGL00818:Rxrg'
| ID |
13892 |
| 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: 0.813)
|
| Stock # |
IGL00818
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
167425953-167467192 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 167454857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015987]
[ENSMUST00000111380]
[ENSMUST00000111384]
[ENSMUST00000111386]
|
| AlphaFold |
P28705 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015987
|
| SMART Domains |
Protein: ENSMUSP00000015987
Gene: ENSMUSG00000015843
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000111380
|
| SMART Domains |
Protein: ENSMUSP00000107011
Gene: ENSMUSG00000015843
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
13 |
84 |
6.92e-39 |
SMART |
|
HOLI
|
148 |
307 |
2.7e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111384
|
| SMART Domains |
Protein: ENSMUSP00000107015
Gene: ENSMUSG00000015843
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000111386
|
| SMART Domains |
Protein: ENSMUSP00000107017
Gene: ENSMUSG00000015843
| Domain | Start | End | E-Value | Type |
|---|
|
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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,475 (GRCm39) |
T700A |
probably benign |
Het |
| Brinp1 |
T |
A |
4: 68,681,084 (GRCm39) |
D482V |
probably damaging |
Het |
| Cmtr2 |
A |
T |
8: 110,949,732 (GRCm39) |
T681S |
probably benign |
Het |
| Dcc |
T |
A |
18: 72,088,083 (GRCm39) |
M52L |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,193,616 (GRCm39) |
I38V |
probably benign |
Het |
| Gars1 |
G |
T |
6: 55,027,338 (GRCm39) |
G144V |
probably damaging |
Het |
| Gp2 |
T |
C |
7: 119,049,350 (GRCm39) |
T396A |
possibly damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,976,238 (GRCm39) |
|
probably null |
Het |
| Mfap4 |
A |
T |
11: 61,378,607 (GRCm39) |
Q209L |
possibly damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,884,158 (GRCm39) |
M348K |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,577,618 (GRCm39) |
T2391S |
possibly damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,452,466 (GRCm39) |
D348G |
probably benign |
Het |
| Tbc1d30 |
G |
A |
10: 121,102,729 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
T |
A |
10: 100,307,342 (GRCm39) |
T221S |
probably benign |
Het |
| Tro |
C |
T |
X: 149,431,357 (GRCm39) |
G1203D |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,552,092 (GRCm39) |
T31182S |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,960,604 (GRCm39) |
Y220C |
probably damaging |
Het |
|
| Other mutations in Rxrg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation