Incidental Mutation 'R6142:Rxrg'
ID |
488608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rxrg
|
Ensembl Gene |
ENSMUSG00000015843 |
Gene Name |
retinoid X receptor gamma |
Synonyms |
Nr2b3 |
MMRRC Submission |
044289-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.826)
|
Stock # |
R6142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
167425953-167467192 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 167460191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 341
(A341S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015987]
[ENSMUST00000111380]
[ENSMUST00000111384]
[ENSMUST00000111386]
|
AlphaFold |
P28705 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015987
AA Change: A341S
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000015987 Gene: ENSMUSG00000015843 AA Change: A341S
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 |
possibly damaging
Transcript: ENSMUST00000111380
AA Change: A218S
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107011 Gene: ENSMUSG00000015843 AA Change: A218S
Domain | Start | End | E-Value | Type |
ZnF_C4
|
13 |
84 |
6.92e-39 |
SMART |
HOLI
|
148 |
307 |
2.7e-50 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111384
AA Change: A341S
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000107015 Gene: ENSMUSG00000015843 AA Change: A341S
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 |
possibly damaging
Transcript: ENSMUST00000111386
AA Change: A341S
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000107017 Gene: ENSMUSG00000015843 AA Change: A341S
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 |
0.2024 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (48/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
T |
C |
15: 98,496,303 (GRCm39) |
M579V |
probably benign |
Het |
Agtr1b |
T |
C |
3: 20,370,558 (GRCm39) |
D16G |
probably benign |
Het |
Akap12 |
C |
A |
10: 4,263,740 (GRCm39) |
|
probably null |
Het |
Alpk2 |
T |
C |
18: 65,438,456 (GRCm39) |
E979G |
possibly damaging |
Het |
Arfgap3 |
T |
C |
15: 83,234,328 (GRCm39) |
D8G |
probably damaging |
Het |
AW551984 |
G |
T |
9: 39,508,410 (GRCm39) |
L369I |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,009,043 (GRCm39) |
H207L |
probably benign |
Het |
Cc2d2a |
G |
T |
5: 43,860,540 (GRCm39) |
V490F |
probably damaging |
Het |
Cnot6l |
C |
T |
5: 96,230,837 (GRCm39) |
V377I |
probably benign |
Het |
Col25a1 |
T |
A |
3: 130,376,978 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
C |
G |
1: 93,118,201 (GRCm39) |
Q375E |
possibly damaging |
Het |
Ganc |
T |
C |
2: 120,261,218 (GRCm39) |
|
probably null |
Het |
Gm28168 |
C |
A |
1: 117,875,678 (GRCm39) |
D102E |
probably benign |
Het |
Gm8212 |
T |
C |
14: 44,438,684 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,709,024 (GRCm39) |
T53A |
probably benign |
Het |
Hipk4 |
G |
A |
7: 27,228,590 (GRCm39) |
V347M |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,269,309 (GRCm39) |
E991G |
probably benign |
Het |
Hyal1 |
G |
A |
9: 107,456,573 (GRCm39) |
R420H |
probably benign |
Het |
Il5 |
G |
A |
11: 53,611,805 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
T |
C |
2: 62,569,704 (GRCm39) |
I731V |
possibly damaging |
Het |
Lamb2 |
A |
T |
9: 108,362,817 (GRCm39) |
K759* |
probably null |
Het |
Lnpep |
A |
G |
17: 17,786,943 (GRCm39) |
|
probably null |
Het |
Lrch1 |
T |
C |
14: 75,184,940 (GRCm39) |
E54G |
probably damaging |
Het |
Msl3l2 |
A |
G |
10: 55,991,461 (GRCm39) |
D62G |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,963,531 (GRCm39) |
L339P |
probably damaging |
Het |
Nfe2l2 |
T |
C |
2: 75,509,761 (GRCm39) |
I20V |
probably damaging |
Het |
Pgm5 |
A |
C |
19: 24,801,772 (GRCm39) |
I152S |
probably damaging |
Het |
Plcg2 |
C |
A |
8: 118,312,010 (GRCm39) |
T434K |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,537,956 (GRCm39) |
E558G |
unknown |
Het |
Ranbp3 |
T |
C |
17: 56,993,018 (GRCm39) |
V12A |
probably benign |
Het |
Rgsl1 |
A |
G |
1: 153,687,984 (GRCm39) |
V635A |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,746,164 (GRCm39) |
V14A |
probably benign |
Het |
Sbf2 |
A |
G |
7: 109,948,182 (GRCm39) |
S1177P |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,414,266 (GRCm39) |
T498A |
probably benign |
Het |
Slc13a4 |
G |
A |
6: 35,278,718 (GRCm39) |
A57V |
probably damaging |
Het |
Slc6a3 |
A |
T |
13: 73,692,902 (GRCm39) |
D174V |
probably benign |
Het |
Spart |
T |
G |
3: 55,024,669 (GRCm39) |
V88G |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,663,566 (GRCm39) |
R1108* |
probably null |
Het |
Tas2r140 |
C |
T |
6: 133,032,698 (GRCm39) |
G20E |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,940,373 (GRCm39) |
V225A |
probably benign |
Het |
Tmem168 |
C |
A |
6: 13,591,368 (GRCm39) |
A99S |
probably benign |
Het |
Tnk2 |
T |
A |
16: 32,488,917 (GRCm39) |
D252E |
probably damaging |
Het |
Tpsg1 |
A |
T |
17: 25,591,460 (GRCm39) |
H20L |
probably benign |
Het |
Tram1l1 |
T |
C |
3: 124,115,092 (GRCm39) |
F84S |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,240,763 (GRCm39) |
I117L |
probably benign |
Het |
Zfp148 |
T |
C |
16: 33,315,829 (GRCm39) |
L219S |
possibly damaging |
Het |
Zfp40 |
C |
A |
17: 23,395,311 (GRCm39) |
E425D |
probably benign |
Het |
Zfp773 |
T |
C |
7: 7,135,481 (GRCm39) |
T372A |
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 |
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 |
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'- TAACCTTTCGGGGATTTCCAC -3'
(R):5'- ATAGTCATGTGCACCTGTTTGG -3'
Sequencing Primer
(F):5'- CATTACGTGGGATGATGCGCC -3'
(R):5'- ACCTGTTTGGGCTGCCTACTG -3'
|
Posted On |
2017-10-10 |