Incidental Mutation 'R3903:Rorb'
| ID |
309284 |
| 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 |
040907-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3903 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
18907969-19088560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18939463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 155
(Y155H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040153]
[ENSMUST00000112828]
[ENSMUST00000112832]
|
| AlphaFold |
Q8R1B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040153
AA Change: Y240H
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: Y240H
| 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 damaging
Transcript: ENSMUST00000112828
AA Change: Y155H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: Y155H
| 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 |
probably benign
Transcript: ENSMUST00000112832
AA Change: Y229H
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: Y229H
| 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 |
|
| Meta Mutation Damage Score |
0.1133 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,086,732 (GRCm39) |
Y185C |
probably null |
Het |
| Calcrl |
T |
A |
2: 84,198,986 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
C |
T |
18: 22,156,152 (GRCm39) |
V573I |
possibly damaging |
Het |
| Cdh6 |
T |
C |
15: 13,042,661 (GRCm39) |
K499R |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Cyp4f40 |
C |
A |
17: 32,878,598 (GRCm39) |
R47S |
possibly damaging |
Het |
| Eif4a2 |
AG |
A |
16: 22,929,390 (GRCm39) |
|
probably null |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Gm8180 |
T |
A |
14: 44,021,092 (GRCm39) |
R39W |
probably null |
Het |
| Golm1 |
T |
C |
13: 59,786,154 (GRCm39) |
Q346R |
probably damaging |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Hormad2 |
A |
G |
11: 4,377,237 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,171 (GRCm39) |
|
probably null |
Het |
| Kif12 |
A |
G |
4: 63,086,213 (GRCm39) |
V378A |
possibly damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,631,904 (GRCm39) |
S1276N |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,631,903 (GRCm39) |
S1276C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or4f53 |
A |
T |
2: 111,088,114 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,954 (GRCm39) |
Q186* |
probably null |
Het |
| Pabpc6 |
T |
C |
17: 9,888,083 (GRCm39) |
E156G |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Scn1a |
A |
G |
2: 66,148,476 (GRCm39) |
I3T |
probably benign |
Het |
| Serpinb9 |
T |
C |
13: 33,194,793 (GRCm39) |
M183T |
possibly damaging |
Het |
| Wnk1 |
A |
G |
6: 119,926,012 (GRCm39) |
S1151P |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,338,380 (GRCm39) |
T207I |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,001 (GRCm39) |
Y587C |
probably benign |
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 |
|
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 |
|
R9033:Rorb
|
UTSW |
19 |
18,965,422 (GRCm39) |
start gained |
probably benign |
|
|
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'- CTCACTCAGGAGAAACTGGAG -3'
(R):5'- GACGTCTAGATCCTCTCACATG -3'
Sequencing Primer
(F):5'- GGCTTGTATAATACACAGAGTAACCC -3'
(R):5'- CACATGACTGTGCACTTAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation