Incidental Mutation 'R0033:Rarg'
| ID |
15265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rarg
|
| Ensembl Gene |
ENSMUSG00000001288 |
| Gene Name |
retinoic acid receptor, gamma |
| Synonyms |
RAR gamma 2, RARgamma2 |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.741)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102143373-102165891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102147270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 372
(I372F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043172]
[ENSMUST00000063339]
[ENSMUST00000130204]
[ENSMUST00000135466]
[ENSMUST00000155563]
|
| AlphaFold |
P18911 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043172
AA Change: I383F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048838
Gene: ENSMUSG00000001288
AA Change: I383F
| 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: I372F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067266
Gene: ENSMUSG00000001288
AA Change: I372F
| 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 benign
Transcript: ENSMUST00000135466
|
| SMART Domains |
Protein: ENSMUSP00000118615
Gene: ENSMUSG00000001288
| 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
|
| Meta Mutation Damage Score |
0.7715 |
| Coding Region Coverage |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
| Validation Efficiency |
96% (74/77) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly 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 |
|
|
R0539:Rarg
|
UTSW |
15 |
102,147,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1137:Rarg
|
UTSW |
15 |
102,149,595 (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 |
|
| Posted On |
2012-12-17 |
Incidental Mutation