Incidental Mutation 'IGL02126:Rxrg'
ID |
280847 |
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 # |
IGL02126
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
167425953-167467192 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 167462029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 235
(M235V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107011
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015987]
[ENSMUST00000111380]
[ENSMUST00000111384]
[ENSMUST00000111386]
|
AlphaFold |
P28705 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015987
AA Change: M358V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000015987 Gene: ENSMUSG00000015843 AA Change: M358V
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: M235V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107011 Gene: ENSMUSG00000015843 AA Change: M235V
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: M358V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107015 Gene: ENSMUSG00000015843 AA Change: M358V
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: M358V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107017 Gene: ENSMUSG00000015843 AA Change: M358V
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Angptl3 |
T |
C |
4: 98,919,738 (GRCm39) |
|
probably null |
Het |
Atoh1 |
T |
C |
6: 64,706,334 (GRCm39) |
W10R |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Ccm2 |
A |
G |
11: 6,544,154 (GRCm39) |
T317A |
probably damaging |
Het |
Ccnt1 |
A |
T |
15: 98,465,484 (GRCm39) |
W12R |
probably damaging |
Het |
Celf1 |
T |
A |
2: 90,831,408 (GRCm39) |
L79H |
probably damaging |
Het |
Cmip |
T |
C |
8: 118,175,770 (GRCm39) |
V423A |
probably damaging |
Het |
Ddr1 |
T |
A |
17: 35,999,481 (GRCm39) |
I431F |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,080,149 (GRCm39) |
L2343P |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,176,817 (GRCm39) |
D1446G |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,419,599 (GRCm39) |
H231R |
possibly damaging |
Het |
Fam221b |
T |
A |
4: 43,666,450 (GRCm39) |
I54F |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,839,281 (GRCm39) |
V365M |
probably damaging |
Het |
Galntl5 |
T |
C |
5: 25,394,839 (GRCm39) |
F69L |
possibly damaging |
Het |
Gba2 |
T |
G |
4: 43,567,918 (GRCm39) |
|
probably null |
Het |
Gbf1 |
C |
A |
19: 46,240,556 (GRCm39) |
P46Q |
probably damaging |
Het |
Gimap6 |
T |
G |
6: 48,679,635 (GRCm39) |
S134R |
probably damaging |
Het |
Gm5424 |
A |
C |
10: 61,907,377 (GRCm39) |
|
noncoding transcript |
Het |
Hexb |
T |
C |
13: 97,314,532 (GRCm39) |
K404E |
possibly damaging |
Het |
Hs3st3a1 |
G |
A |
11: 64,327,331 (GRCm39) |
V147M |
probably damaging |
Het |
Hsd17b4 |
T |
C |
18: 50,315,063 (GRCm39) |
V610A |
probably benign |
Het |
Loxl3 |
T |
A |
6: 83,025,628 (GRCm39) |
W329R |
probably damaging |
Het |
Lrrc52 |
A |
G |
1: 167,273,575 (GRCm39) |
F247S |
probably damaging |
Het |
Naa38 |
C |
T |
11: 69,287,045 (GRCm39) |
R42W |
probably damaging |
Het |
Nadsyn1 |
G |
A |
7: 143,357,753 (GRCm39) |
Q485* |
probably null |
Het |
Nid1 |
A |
G |
13: 13,663,743 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
T |
C |
13: 40,362,251 (GRCm39) |
T224A |
probably benign |
Het |
Or5m11b |
T |
G |
2: 85,806,517 (GRCm39) |
I310S |
probably benign |
Het |
Palld |
A |
G |
8: 62,330,476 (GRCm39) |
Y134H |
possibly damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Pfn3 |
T |
C |
13: 55,562,699 (GRCm39) |
D94G |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,187,419 (GRCm39) |
R3630C |
probably damaging |
Het |
Por |
T |
A |
5: 135,744,829 (GRCm39) |
F31I |
probably benign |
Het |
Ppp1r12c |
T |
C |
7: 4,492,858 (GRCm39) |
E127G |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 5,156,229 (GRCm39) |
S1162T |
probably damaging |
Het |
Psen2 |
C |
A |
1: 180,057,488 (GRCm39) |
A297S |
probably benign |
Het |
Rpusd2 |
G |
A |
2: 118,869,119 (GRCm39) |
R514Q |
probably damaging |
Het |
Sash1 |
T |
C |
10: 8,615,229 (GRCm39) |
M644V |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
Slco1a7 |
T |
A |
6: 141,684,739 (GRCm39) |
T239S |
probably benign |
Het |
Ssu72 |
T |
C |
4: 155,816,483 (GRCm39) |
I155T |
probably benign |
Het |
Tas2r102 |
A |
G |
6: 132,739,607 (GRCm39) |
R172G |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trav12-2 |
C |
A |
14: 53,853,859 (GRCm39) |
N2K |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,755,845 (GRCm39) |
Q205* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,180,052 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
G |
1: 187,995,588 (GRCm39) |
S120G |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,741,504 (GRCm39) |
|
probably benign |
Het |
Zer1 |
G |
T |
2: 29,994,928 (GRCm39) |
T489K |
probably benign |
Het |
Zfp955b |
G |
T |
17: 33,521,238 (GRCm39) |
G236* |
probably null |
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 |
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 |
2015-04-16 |