Incidental Mutation 'R4484:Rxrg'
| ID |
331518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxrg
|
| Ensembl Gene |
ENSMUSG00000015843 |
| Gene Name |
retinoid X receptor gamma |
| Synonyms |
Nr2b3 |
| MMRRC Submission |
041740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R4484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
167425953-167467192 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 167452596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 133
(S133P)
|
| 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
AA Change: S133P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000015987
Gene: ENSMUSG00000015843
AA Change: S133P
| 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
AA Change: S10P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107011
Gene: ENSMUSG00000015843
AA Change: S10P
| 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
AA Change: S133P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000107015
Gene: ENSMUSG00000015843
AA Change: S133P
| 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
AA Change: S133P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000107017
Gene: ENSMUSG00000015843
AA Change: S133P
| 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 |
0.1267 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (46/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,301,730 (GRCm39) |
C1101R |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,357,016 (GRCm39) |
I588T |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd164l2 |
T |
A |
4: 132,950,986 (GRCm39) |
V147E |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,723,262 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,836,482 (GRCm39) |
T894A |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,239,696 (GRCm39) |
D552G |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,455,733 (GRCm39) |
N593I |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,083 (GRCm39) |
E142G |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
| Gm44501 |
T |
A |
17: 40,887,507 (GRCm39) |
F8L |
unknown |
Het |
| Gpr179 |
T |
C |
11: 97,226,537 (GRCm39) |
S1873G |
probably benign |
Het |
| Gprin2 |
C |
A |
14: 33,916,754 (GRCm39) |
A339S |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,649,038 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,208 (GRCm39) |
R91* |
probably null |
Het |
| Igtp |
G |
A |
11: 58,097,824 (GRCm39) |
V332I |
possibly damaging |
Het |
| Itfg1 |
G |
A |
8: 86,452,878 (GRCm39) |
P497S |
probably damaging |
Het |
| Junb |
T |
C |
8: 85,704,517 (GRCm39) |
N181S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,614,145 (GRCm39) |
Y1305H |
probably benign |
Het |
| Lrrcc1 |
A |
T |
3: 14,616,503 (GRCm39) |
N44I |
probably damaging |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Mkks |
T |
C |
2: 136,722,494 (GRCm39) |
E221G |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,970,379 (GRCm39) |
V374A |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,422,187 (GRCm39) |
C4441F |
possibly damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,710 (GRCm39) |
Q395* |
probably null |
Het |
| Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
| Ntng1 |
C |
A |
3: 110,051,124 (GRCm39) |
|
probably benign |
Het |
| Padi1 |
G |
T |
4: 140,544,581 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,339,192 (GRCm39) |
I110T |
probably benign |
Het |
| Strap |
T |
C |
6: 137,726,334 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,631,831 (GRCm39) |
D890G |
probably benign |
Het |
| Tgtp2 |
A |
T |
11: 48,950,179 (GRCm39) |
M131K |
probably damaging |
Het |
| Tppp2 |
T |
C |
14: 52,156,868 (GRCm39) |
F82L |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,863,126 (GRCm39) |
K397E |
possibly damaging |
Het |
| Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
| Usp36 |
T |
A |
11: 118,176,621 (GRCm39) |
R66W |
probably damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,980,174 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r61 |
G |
A |
7: 41,950,120 (GRCm39) |
D847N |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,987,137 (GRCm39) |
|
probably null |
Het |
| Zfp963 |
T |
C |
8: 70,197,135 (GRCm39) |
I36V |
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,107,351 (GRCm39) |
Y428H |
possibly damaging |
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 |
|
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 |
|
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'- GAGCTCATCTCACATGCACG -3'
(R):5'- AAGACTGCAGGCTCTGAAC -3'
Sequencing Primer
(F):5'- TCACATGCACGCGCCTTG -3'
(R):5'- GGCTCTGAACCCCGTAATAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation