Incidental Mutation 'R1137:Rarg'
| ID |
95224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rarg
|
| Ensembl Gene |
ENSMUSG00000001288 |
| Gene Name |
retinoic acid receptor, gamma |
| Synonyms |
RAR gamma 2, RARgamma2 |
| MMRRC Submission |
039210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.741)
|
| Stock # |
R1137 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102143373-102165891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102149595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 125
(T125A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043172]
[ENSMUST00000063339]
[ENSMUST00000130204]
[ENSMUST00000135466]
[ENSMUST00000155563]
|
| AlphaFold |
P18911 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043172
AA Change: T125A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048838
Gene: ENSMUSG00000001288
AA Change: T125A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
84 |
N/A |
INTRINSIC |
|
ZnF_C4
|
87 |
158 |
1.53e-40 |
SMART |
|
HOLI
|
232 |
390 |
9.07e-34 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063339
AA Change: T114A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067266
Gene: ENSMUSG00000001288
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
73 |
N/A |
INTRINSIC |
|
ZnF_C4
|
76 |
147 |
1.53e-40 |
SMART |
|
HOLI
|
221 |
379 |
9.07e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124224
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130204
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135466
AA Change: T125A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118615
Gene: ENSMUSG00000001288
AA Change: T125A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
84 |
N/A |
INTRINSIC |
|
ZnF_C4
|
87 |
158 |
1.53e-40 |
SMART |
|
PDB:1EXX|A
|
178 |
227 |
5e-28 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155563
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit stunted growth, homeotic transformations of the rostral axial skeleton and tracheal cartilage, Harderian gland agenesis, high postnatal mortality, and male sterility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,256 (GRCm39) |
S54T |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,789,424 (GRCm39) |
T222A |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,760 (GRCm39) |
K1561E |
probably benign |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,676,446 (GRCm39) |
V78A |
probably damaging |
Het |
| Clec4n |
G |
A |
6: 123,223,526 (GRCm39) |
M170I |
possibly damaging |
Het |
| Cp |
G |
T |
3: 20,033,116 (GRCm39) |
A648S |
probably benign |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dnah8 |
A |
G |
17: 31,074,910 (GRCm39) |
D4543G |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,370 (GRCm39) |
V477A |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,885,205 (GRCm39) |
S245P |
probably benign |
Het |
| Fkbp9 |
G |
T |
6: 56,837,682 (GRCm39) |
G312V |
probably damaging |
Het |
| Htr4 |
A |
G |
18: 62,570,624 (GRCm39) |
I226M |
probably damaging |
Het |
| Impa2 |
G |
A |
18: 67,451,497 (GRCm39) |
V264I |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,914,486 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,515,981 (GRCm39) |
V2621F |
possibly damaging |
Het |
| Lif |
A |
G |
11: 4,219,237 (GRCm39) |
D172G |
probably damaging |
Het |
| Llgl1 |
C |
A |
11: 60,595,559 (GRCm39) |
H82N |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,162,273 (GRCm39) |
I162M |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,694,511 (GRCm39) |
I1078N |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,137,745 (GRCm39) |
T196S |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,464,634 (GRCm39) |
L657P |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Ppp1cb |
T |
C |
5: 32,645,015 (GRCm39) |
M55T |
probably damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,159,697 (GRCm39) |
M1078T |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Slc5a7 |
G |
A |
17: 54,600,039 (GRCm39) |
R125C |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tigit |
G |
T |
16: 43,469,485 (GRCm39) |
T202N |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,860,606 (GRCm39) |
A617V |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,938,400 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,768,659 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,852,422 (GRCm39) |
D846V |
probably damaging |
Het |
| Vmn1r16 |
T |
G |
6: 57,300,221 (GRCm39) |
N134H |
probably damaging |
Het |
|
| Other mutations in Rarg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02877:Rarg
|
APN |
15 |
102,150,374 (GRCm39) |
splice site |
probably null |
|
|
R0033:Rarg
|
UTSW |
15 |
102,147,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0539:Rarg
|
UTSW |
15 |
102,147,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1593:Rarg
|
UTSW |
15 |
102,148,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Rarg
|
UTSW |
15 |
102,160,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1926:Rarg
|
UTSW |
15 |
102,147,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Rarg
|
UTSW |
15 |
102,147,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2211:Rarg
|
UTSW |
15 |
102,147,959 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4581:Rarg
|
UTSW |
15 |
102,160,986 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5718:Rarg
|
UTSW |
15 |
102,149,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Rarg
|
UTSW |
15 |
102,150,327 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6991:Rarg
|
UTSW |
15 |
102,150,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Rarg
|
UTSW |
15 |
102,160,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8104:Rarg
|
UTSW |
15 |
102,148,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Rarg
|
UTSW |
15 |
102,148,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCTTGGCAGCACAATGGTG -3'
(R):5'- AGGACCTAGCTCAGTGGTGGAATG -3'
Sequencing Primer
(F):5'- CATCTCAGGATCTGTCCTGTGAAAG -3'
(R):5'- CAGTGGTGGAATGCTTACAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation