Incidental Mutation 'R2974:Rxrg'
| ID |
255307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxrg
|
| Ensembl Gene |
ENSMUSG00000015843 |
| Gene Name |
retinoid X receptor gamma |
| Synonyms |
Nr2b3 |
| MMRRC Submission |
040527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R2974 (G1)
|
| Quality Score |
225 |
|
Status
|
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
| 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 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 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
| 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 |
|
| Meta Mutation Damage Score |
0.9136 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (38/39) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,152,499 (GRCm39) |
H583R |
possibly damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,325,074 (GRCm39) |
|
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,091,361 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,582,806 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
G |
1: 123,339,434 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 121,297,636 (GRCm39) |
|
probably benign |
Het |
| Med15 |
T |
C |
16: 17,470,575 (GRCm39) |
Y744C |
probably damaging |
Het |
| Nlrp4d |
A |
G |
7: 10,112,367 (GRCm39) |
|
probably benign |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or4p21 |
A |
T |
2: 88,276,918 (GRCm39) |
C121* |
probably null |
Het |
| Or8g30 |
T |
C |
9: 39,230,292 (GRCm39) |
N206S |
probably damaging |
Het |
| Phax |
T |
A |
18: 56,706,134 (GRCm39) |
M8K |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,558,957 (GRCm39) |
T476S |
probably damaging |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Simc1 |
A |
G |
13: 54,698,274 (GRCm39) |
D397G |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,964,262 (GRCm39) |
N203D |
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 |
| Tnip1 |
C |
T |
11: 54,824,809 (GRCm39) |
|
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ube2d2a |
T |
A |
18: 35,933,225 (GRCm39) |
D87E |
possibly damaging |
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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R2972: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'- AAGCTCTCTGGGTTGCAATC -3'
(R):5'- TCACATTTTGGGGACAGGAAG -3'
Sequencing Primer
(F):5'- TCTGGGTTGCAATCCTCCGG -3'
(R):5'- AGGGTAGGGCCACACACAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation