Incidental Mutation 'R9033:Rorb'
| ID |
687198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rorb
|
| Ensembl Gene |
ENSMUSG00000036192 |
| Gene Name |
RAR-related orphan receptor beta |
| Synonyms |
hstp, Rorbeta, RZR-beta, Nr1f2 |
| MMRRC Submission |
068862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
18907969-19088560 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 18965422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040153]
[ENSMUST00000112828]
[ENSMUST00000112832]
|
| AlphaFold |
Q8R1B8 |
| Predicted Effect |
silent
Transcript: ENSMUST00000040153
|
| SMART Domains |
Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
89 |
1.51e-39 |
SMART |
|
coiled coil region
|
95 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
HOLI
|
275 |
431 |
1.83e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112828
|
| SMART Domains |
Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
HOLI
|
190 |
346 |
1.83e-29 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000112832
|
| SMART Domains |
Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
7 |
78 |
1.51e-39 |
SMART |
|
coiled coil region
|
84 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
|
HOLI
|
264 |
420 |
1.83e-29 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
94% (30/32) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that 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, and to help regulate the expression 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: Mice homozygous for disruptions in this gene have impaired vision and a variety of behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,808,934 (GRCm39) |
G87D |
unknown |
Het |
| Actg1 |
T |
C |
11: 120,237,826 (GRCm39) |
K238R |
probably benign |
Het |
| Arhgef10l |
G |
A |
4: 140,321,463 (GRCm39) |
R115C |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,405,865 (GRCm39) |
F1584S |
probably damaging |
Het |
| Atp2b4 |
C |
T |
1: 133,634,725 (GRCm39) |
R1168H |
probably benign |
Het |
| Catsper1 |
G |
A |
19: 5,387,864 (GRCm39) |
|
probably null |
Het |
| Chgb |
A |
C |
2: 132,634,914 (GRCm39) |
K285N |
probably damaging |
Het |
| Csnk1g1 |
A |
G |
9: 65,915,070 (GRCm39) |
Y243C |
probably damaging |
Het |
| Dpysl5 |
G |
T |
5: 30,948,941 (GRCm39) |
D399Y |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,646,475 (GRCm39) |
R259G |
probably benign |
Het |
| Foxf2 |
C |
T |
13: 31,810,085 (GRCm39) |
P8L |
unknown |
Het |
| Fpr1 |
C |
T |
17: 18,097,691 (GRCm39) |
W99* |
probably null |
Het |
| Itprid2 |
A |
G |
2: 79,465,938 (GRCm39) |
S19G |
probably damaging |
Het |
| Kansl1 |
A |
G |
11: 104,248,356 (GRCm39) |
S533P |
probably benign |
Het |
| Klhl25 |
T |
A |
7: 75,516,681 (GRCm39) |
M529K |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,465,651 (GRCm39) |
R697H |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,105,396 (GRCm39) |
V1515I |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,302,138 (GRCm39) |
F926L |
probably damaging |
Het |
| Pfkfb2 |
T |
A |
1: 130,626,475 (GRCm39) |
K433* |
probably null |
Het |
| Pirb |
G |
C |
7: 3,720,584 (GRCm39) |
Q305E |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,967,585 (GRCm39) |
D90G |
probably damaging |
Het |
| Rergl |
T |
C |
6: 139,471,900 (GRCm39) |
Y83C |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,236 (GRCm39) |
Q948R |
probably damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,237,457 (GRCm39) |
R147* |
probably null |
Het |
| Tdpoz6 |
T |
C |
3: 93,600,168 (GRCm39) |
Y67C |
probably damaging |
Het |
| Tdrd7 |
G |
T |
4: 46,007,468 (GRCm39) |
D507Y |
probably damaging |
Het |
| Tspan31 |
C |
A |
10: 126,904,349 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,923,499 (GRCm39) |
|
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,414 (GRCm39) |
Y311N |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,818,492 (GRCm39) |
S639T |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,780,655 (GRCm39) |
F168L |
possibly damaging |
Het |
|
| Other mutations in Rorb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Rorb
|
APN |
19 |
18,934,692 (GRCm39) |
nonsense |
probably null |
|
|
IGL01576:Rorb
|
APN |
19 |
18,934,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Rorb
|
APN |
19 |
18,929,617 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02886:Rorb
|
APN |
19 |
18,954,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
4-limb_clasper
|
UTSW |
19 |
18,960,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dee-no
|
UTSW |
19 |
18,932,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
grasshopper
|
UTSW |
19 |
19,087,921 (GRCm39) |
start codon destroyed |
probably null |
0.45 |
|
IGL02988:Rorb
|
UTSW |
19 |
18,915,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0748:Rorb
|
UTSW |
19 |
18,955,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1087:Rorb
|
UTSW |
19 |
18,937,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1438:Rorb
|
UTSW |
19 |
18,932,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Rorb
|
UTSW |
19 |
18,937,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Rorb
|
UTSW |
19 |
18,932,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Rorb
|
UTSW |
19 |
18,939,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Rorb
|
UTSW |
19 |
18,929,567 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3903:Rorb
|
UTSW |
19 |
18,939,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3978:Rorb
|
UTSW |
19 |
18,915,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4497:Rorb
|
UTSW |
19 |
18,954,992 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4982:Rorb
|
UTSW |
19 |
18,955,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5602:Rorb
|
UTSW |
19 |
18,955,301 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5733:Rorb
|
UTSW |
19 |
18,965,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Rorb
|
UTSW |
19 |
18,955,221 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6455:Rorb
|
UTSW |
19 |
18,937,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6544:Rorb
|
UTSW |
19 |
18,929,614 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6753:Rorb
|
UTSW |
19 |
18,934,611 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7817:Rorb
|
UTSW |
19 |
18,965,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Rorb
|
UTSW |
19 |
18,960,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8918:Rorb
|
UTSW |
19 |
18,915,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Rorb
|
UTSW |
19 |
18,955,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9136:Rorb
|
UTSW |
19 |
18,934,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Rorb
|
UTSW |
19 |
18,939,499 (GRCm39) |
nonsense |
probably null |
|
|
R9622:Rorb
|
UTSW |
19 |
18,955,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAGAGCTGCAGATCAGTTAGAC -3'
(R):5'- TCAAATAGTAATGACCCCAGGC -3'
Sequencing Primer
(F):5'- GCTGCAGATCAGTTAGACAAAAAC -3'
(R):5'- GTAATGACCCCAGGCCATCACTAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation