Incidental Mutation 'R5660:Rora'
| ID |
444040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rora
|
| Ensembl Gene |
ENSMUSG00000032238 |
| Gene Name |
RAR-related orphan receptor alpha |
| Synonyms |
tmgc26, Nr1f1, 9530021D13Rik |
| MMRRC Submission |
043173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.911)
|
| Stock # |
R5660 (G1)
|
| Quality Score |
82 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
68561068-69295528 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68561203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 11
(S11G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034766]
[ENSMUST00000174296]
|
| AlphaFold |
P51448 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034766
AA Change: S39G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034766
Gene: ENSMUSG00000032238
AA Change: S39G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
ZnF_C4
|
70 |
141 |
4.71e-41 |
SMART |
|
low complexity region
|
161 |
175 |
N/A |
INTRINSIC |
|
HOLI
|
325 |
481 |
8.8e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174296
AA Change: S11G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for null mutations exhibit ataxia, cerebellar dysgenesis, impaired Purkinje and granule cell development, olfactory defects, hypoalphalipoproteinemia, and death around 4 weeks. Heterozygotes show slow Purkinje cell dedritic atrophy and loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,757,828 (GRCm39) |
N1307S |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,274,539 (GRCm39) |
D41E |
possibly damaging |
Het |
| Adamts13 |
T |
C |
2: 26,886,761 (GRCm39) |
V966A |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,667,472 (GRCm39) |
D470V |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,901 (GRCm39) |
F261L |
probably damaging |
Het |
| Akap3 |
C |
T |
6: 126,842,254 (GRCm39) |
A291V |
probably damaging |
Het |
| Akr1c6 |
G |
A |
13: 4,499,053 (GRCm39) |
V214I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,255 (GRCm39) |
I238F |
possibly damaging |
Het |
| Atg2b |
A |
T |
12: 105,615,383 (GRCm39) |
Y1024* |
probably null |
Het |
| Cad |
T |
A |
5: 31,234,191 (GRCm39) |
D1956E |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,843,220 (GRCm39) |
I237N |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,542,337 (GRCm39) |
T180A |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,313,686 (GRCm39) |
N1303K |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,873,315 (GRCm39) |
S2227P |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,972,722 (GRCm39) |
M324K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,321,574 (GRCm39) |
K4363R |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,348,500 (GRCm39) |
Y238N |
probably benign |
Het |
| Fam83c |
G |
A |
2: 155,671,509 (GRCm39) |
A642V |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,175,002 (GRCm39) |
T1904S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,306,291 (GRCm39) |
N279S |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,397 (GRCm39) |
N374S |
probably benign |
Het |
| Gm14401 |
T |
A |
2: 176,778,224 (GRCm39) |
H103Q |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,126,048 (GRCm39) |
|
noncoding transcript |
Het |
| Helb |
G |
A |
10: 119,946,984 (GRCm39) |
Q110* |
probably null |
Het |
| Ido1 |
T |
C |
8: 25,081,558 (GRCm39) |
D41G |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,898,152 (GRCm39) |
S805P |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,147 (GRCm39) |
A24E |
probably damaging |
Het |
| Mmp23 |
C |
T |
4: 155,735,710 (GRCm39) |
C287Y |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,087,918 (GRCm39) |
R147G |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,292,147 (GRCm39) |
K301E |
possibly damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,535 (GRCm39) |
L196P |
probably damaging |
Het |
| Or8g4 |
G |
A |
9: 39,662,063 (GRCm39) |
C127Y |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,671,776 (GRCm39) |
C60S |
probably benign |
Het |
| Rps6ka5 |
G |
T |
12: 100,585,839 (GRCm39) |
H151Q |
possibly damaging |
Het |
| Sgsh |
A |
G |
11: 119,241,807 (GRCm39) |
S100P |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,694,902 (GRCm39) |
T1229A |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,248,804 (GRCm39) |
Y62H |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Smg1 |
C |
T |
7: 117,742,570 (GRCm39) |
V3215I |
probably benign |
Het |
| Smyd2 |
G |
A |
1: 189,617,579 (GRCm39) |
P285L |
possibly damaging |
Het |
| Themis2 |
T |
C |
4: 132,523,567 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
G |
4: 43,547,732 (GRCm39) |
V743A |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,150,495 (GRCm39) |
N462Y |
possibly damaging |
Het |
| Wnt2 |
T |
A |
6: 18,028,145 (GRCm39) |
M30L |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,576,365 (GRCm39) |
I239V |
probably benign |
Het |
|
| Other mutations in Rora |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Rora
|
APN |
9 |
69,278,572 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02355:Rora
|
APN |
9 |
69,281,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Rora
|
APN |
9 |
69,281,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4696001:Rora
|
UTSW |
9 |
69,271,841 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0091:Rora
|
UTSW |
9 |
69,281,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Rora
|
UTSW |
9 |
69,269,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Rora
|
UTSW |
9 |
69,269,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Rora
|
UTSW |
9 |
69,271,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1712:Rora
|
UTSW |
9 |
69,282,771 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1785:Rora
|
UTSW |
9 |
69,284,119 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2883:Rora
|
UTSW |
9 |
69,282,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4173:Rora
|
UTSW |
9 |
68,561,192 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5226:Rora
|
UTSW |
9 |
69,271,423 (GRCm39) |
intron |
probably benign |
|
|
R6029:Rora
|
UTSW |
9 |
69,271,734 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6054:Rora
|
UTSW |
9 |
69,286,084 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6114:Rora
|
UTSW |
9 |
69,278,605 (GRCm39) |
missense |
probably benign |
|
|
R6329:Rora
|
UTSW |
9 |
69,280,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Rora
|
UTSW |
9 |
69,103,365 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7170:Rora
|
UTSW |
9 |
69,280,472 (GRCm39) |
nonsense |
probably null |
|
|
R7233:Rora
|
UTSW |
9 |
69,104,804 (GRCm39) |
nonsense |
probably null |
|
|
R7512:Rora
|
UTSW |
9 |
69,281,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9647:Rora
|
UTSW |
9 |
69,255,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rora
|
UTSW |
9 |
69,271,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCATAGAGTCGCTCTGAAAACAG -3'
(R):5'- AAAGTTTGCAACATTTGTGGGG -3'
Sequencing Primer
(F):5'- GTCGCTCTGAAAACAGAAGATAG -3'
(R):5'- GGCACCACGATAGGCTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation