Incidental Mutation 'IGL03144:Rxrg'
ID |
410807 |
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: 0.826)
|
Stock # |
IGL03144
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
167425953-167467192 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 167426327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 3
(G3R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015987]
[ENSMUST00000111384]
[ENSMUST00000111386]
|
AlphaFold |
P28705 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015987
AA Change: G3R
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000015987 Gene: ENSMUSG00000015843 AA Change: G3R
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: ENSMUST00000111384
AA Change: G3R
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107015 Gene: ENSMUSG00000015843 AA Change: G3R
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: G3R
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107017 Gene: ENSMUSG00000015843 AA Change: G3R
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
A |
17: 24,600,938 (GRCm39) |
Q451K |
probably benign |
Het |
Acly |
A |
T |
11: 100,405,909 (GRCm39) |
D294E |
possibly damaging |
Het |
Arid3a |
C |
T |
10: 79,782,316 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,643,539 (GRCm39) |
V1830A |
probably benign |
Het |
Atp6v1b1 |
T |
C |
6: 83,735,333 (GRCm39) |
V467A |
probably benign |
Het |
Ccdc171 |
A |
T |
4: 83,736,327 (GRCm39) |
I1233L |
probably damaging |
Het |
Ccdc74a |
C |
A |
16: 17,466,730 (GRCm39) |
Q146K |
possibly damaging |
Het |
Cdh26 |
A |
G |
2: 178,109,967 (GRCm39) |
D420G |
probably damaging |
Het |
Ceacam20 |
T |
C |
7: 19,705,444 (GRCm39) |
V145A |
possibly damaging |
Het |
Cmya5 |
C |
A |
13: 93,227,376 (GRCm39) |
A2571S |
probably damaging |
Het |
Cog2 |
T |
C |
8: 125,267,763 (GRCm39) |
S360P |
probably damaging |
Het |
Col26a1 |
G |
T |
5: 136,794,202 (GRCm39) |
T132N |
probably damaging |
Het |
Col6a2 |
T |
A |
10: 76,450,259 (GRCm39) |
H224L |
probably benign |
Het |
Cpm |
C |
T |
10: 117,519,319 (GRCm39) |
S409L |
probably benign |
Het |
Dock4 |
G |
T |
12: 40,742,906 (GRCm39) |
|
probably benign |
Het |
Dpy19l2 |
T |
A |
9: 24,557,603 (GRCm39) |
N391Y |
possibly damaging |
Het |
Exosc9 |
G |
A |
3: 36,608,284 (GRCm39) |
G126D |
probably damaging |
Het |
Eya3 |
T |
C |
4: 132,420,453 (GRCm39) |
S256P |
probably benign |
Het |
Fat3 |
T |
C |
9: 16,286,541 (GRCm39) |
D994G |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,011,008 (GRCm39) |
Q2036R |
possibly damaging |
Het |
Fryl |
T |
C |
5: 73,258,798 (GRCm39) |
Q662R |
probably null |
Het |
Gm13271 |
A |
G |
4: 88,673,636 (GRCm39) |
R178G |
probably benign |
Het |
Gpr165 |
T |
A |
X: 95,760,560 (GRCm39) |
L279Q |
probably damaging |
Het |
Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
Kcnb2 |
T |
C |
1: 15,780,112 (GRCm39) |
L328P |
probably damaging |
Het |
Klhl26 |
C |
T |
8: 70,905,214 (GRCm39) |
R198H |
probably damaging |
Het |
Nhsl2 |
A |
G |
X: 101,123,115 (GRCm39) |
R973G |
possibly damaging |
Het |
Nmi |
A |
T |
2: 51,842,546 (GRCm39) |
F182Y |
probably damaging |
Het |
Nop2 |
T |
A |
6: 125,114,475 (GRCm39) |
|
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Ooep |
G |
T |
9: 78,285,289 (GRCm39) |
A109E |
possibly damaging |
Het |
Or1j21 |
A |
G |
2: 36,684,093 (GRCm39) |
T282A |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,387,591 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,467,459 (GRCm39) |
N127D |
probably damaging |
Het |
Rabgap1 |
G |
A |
2: 37,430,544 (GRCm39) |
R695H |
probably damaging |
Het |
Slc17a3 |
T |
C |
13: 24,030,423 (GRCm39) |
M178T |
probably benign |
Het |
Slc39a8 |
A |
G |
3: 135,589,971 (GRCm39) |
E287G |
probably benign |
Het |
Slc44a5 |
G |
T |
3: 153,949,177 (GRCm39) |
D217Y |
possibly damaging |
Het |
Slc4a10 |
G |
T |
2: 62,080,810 (GRCm39) |
V346L |
probably benign |
Het |
Slc9a4 |
T |
C |
1: 40,651,362 (GRCm39) |
Y547H |
probably damaging |
Het |
St6galnac3 |
A |
C |
3: 152,911,164 (GRCm39) |
Y266D |
probably damaging |
Het |
Stard6 |
A |
T |
18: 70,609,182 (GRCm39) |
Y3F |
possibly damaging |
Het |
Stk25 |
C |
A |
1: 93,556,858 (GRCm39) |
L53F |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,081,474 (GRCm39) |
|
probably benign |
Het |
Tmem151a |
T |
A |
19: 5,135,400 (GRCm39) |
M1L |
probably benign |
Het |
Trim10 |
T |
C |
17: 37,187,740 (GRCm39) |
S319P |
probably damaging |
Het |
Trmt44 |
G |
T |
5: 35,721,766 (GRCm39) |
P466T |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,008,401 (GRCm39) |
I256T |
probably damaging |
Het |
Vmn2r125 |
G |
T |
4: 156,702,314 (GRCm39) |
L33F |
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 |
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 |
2016-08-02 |