Incidental Mutation 'IGL02863:Rorb'
| ID |
362233 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rorb
|
| Ensembl Gene |
ENSMUSG00000036192 |
| Gene Name |
RAR-related orphan receptor beta |
| Synonyms |
hstp, Rorbeta, RZR-beta, Nr1f2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
18907969-19088560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18929617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 377
(E377K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040153]
[ENSMUST00000112828]
[ENSMUST00000112832]
|
| AlphaFold |
Q8R1B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040153
AA Change: E388K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: E388K
| 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
AA Change: E303K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: E303K
| 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: E377K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: E377K
| 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 |
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,115,026 (GRCm39) |
H640L |
probably damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,287,112 (GRCm39) |
Y110* |
probably null |
Het |
| Alk |
T |
A |
17: 72,204,830 (GRCm39) |
E1114V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,287,661 (GRCm39) |
D213E |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,688,564 (GRCm39) |
N164S |
probably benign |
Het |
| Arhgef9 |
G |
A |
X: 94,121,110 (GRCm39) |
R266C |
probably damaging |
Het |
| Armh3 |
T |
A |
19: 45,946,850 (GRCm39) |
N256Y |
probably damaging |
Het |
| Arnt2 |
C |
T |
7: 83,917,145 (GRCm39) |
R483H |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,541 (GRCm39) |
N1517I |
probably benign |
Het |
| Baiap3 |
C |
T |
17: 25,463,476 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
A |
7: 28,582,581 (GRCm39) |
V152E |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,051,491 (GRCm39) |
T324A |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,592,457 (GRCm39) |
T47A |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,415,677 (GRCm39) |
S2669G |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,017,250 (GRCm39) |
R1520H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,988,671 (GRCm39) |
C3214R |
probably damaging |
Het |
| Elapor2 |
C |
A |
5: 9,511,399 (GRCm39) |
C920* |
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,145,176 (GRCm39) |
C2688S |
possibly damaging |
Het |
| Fgf13 |
A |
G |
X: 58,109,029 (GRCm39) |
V201A |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,357,584 (GRCm39) |
L228* |
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,760,006 (GRCm39) |
C39R |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,534 (GRCm39) |
T274A |
possibly damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,167 (GRCm39) |
L238M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,654,280 (GRCm39) |
E366D |
probably benign |
Het |
| Mgat4e |
C |
T |
1: 134,468,896 (GRCm39) |
E383K |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,224,446 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,223,367 (GRCm39) |
L229Q |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,368,953 (GRCm39) |
L571Q |
probably damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,347,513 (GRCm39) |
M354L |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,696,340 (GRCm39) |
F286S |
probably damaging |
Het |
| Ocstamp |
A |
G |
2: 165,239,428 (GRCm39) |
F253L |
probably damaging |
Het |
| Or10ak9 |
T |
G |
4: 118,726,083 (GRCm39) |
I34S |
possibly damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,457 (GRCm39) |
S188P |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,120,286 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,886,243 (GRCm39) |
L1774P |
unknown |
Het |
| Paxip1 |
T |
C |
5: 27,964,393 (GRCm39) |
S729G |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,304,027 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
G |
A |
17: 24,788,726 (GRCm39) |
G828D |
possibly damaging |
Het |
| Ppp4r3c2 |
C |
T |
X: 88,796,429 (GRCm39) |
P87L |
possibly damaging |
Het |
| Raver1 |
A |
G |
9: 20,987,267 (GRCm39) |
L670P |
probably damaging |
Het |
| Rhd |
A |
G |
4: 134,612,621 (GRCm39) |
I291V |
probably damaging |
Het |
| Slc1a5 |
T |
C |
7: 16,527,646 (GRCm39) |
I314T |
probably benign |
Het |
| Synj1 |
T |
C |
16: 90,758,322 (GRCm39) |
T841A |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,522,913 (GRCm39) |
L1448H |
probably damaging |
Het |
| Tmc3 |
G |
T |
7: 83,271,494 (GRCm39) |
S882I |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,271,493 (GRCm39) |
S882C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,582,917 (GRCm39) |
N271D |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,973,096 (GRCm39) |
I759V |
possibly damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r115 |
G |
T |
17: 23,578,257 (GRCm39) |
V577F |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation