Incidental Mutation 'R4181:Rorc'
| ID |
319723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rorc
|
| Ensembl Gene |
ENSMUSG00000028150 |
| Gene Name |
RAR-related orphan receptor gamma |
| Synonyms |
Thor, RORgamma, thymus orphan receptor |
| MMRRC Submission |
041017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R4181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94280101-94305583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94294500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 33
(C33Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029795]
[ENSMUST00000197040]
[ENSMUST00000200009]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029795
AA Change: C48Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
AA Change: C48Y
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
28 |
99 |
7.2e-37 |
SMART |
|
low complexity region
|
116 |
133 |
N/A |
INTRINSIC |
|
HOLI
|
320 |
474 |
3.78e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197040
AA Change: C27Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150
AA Change: C27Y
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
7 |
78 |
7.2e-37 |
SMART |
|
low complexity region
|
95 |
112 |
N/A |
INTRINSIC |
|
HOLI
|
299 |
453 |
3.78e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198793
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200009
AA Change: C33Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150
AA Change: C33Y
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
13 |
84 |
7.2e-37 |
SMART |
|
low complexity region
|
101 |
118 |
N/A |
INTRINSIC |
|
PDB:3L0L|B
|
243 |
309 |
1e-22 |
PDB |
|
| Meta Mutation Damage Score |
0.9747 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
92% (48/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lack of peripheral and mesenteric lymph nodes and Peyer's patches, reduced numbers of thymocytes, and increased apoptosis with loss of thymic expression of anti-apoptosic factor Bcl-xL. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,854,714 (GRCm39) |
K284R |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,843,707 (GRCm39) |
T185A |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Carmil3 |
G |
A |
14: 55,741,412 (GRCm39) |
D1066N |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Cmpk2 |
T |
C |
12: 26,527,046 (GRCm39) |
V345A |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,486 (GRCm39) |
|
probably null |
Het |
| Cyp7a1 |
C |
T |
4: 6,271,205 (GRCm39) |
G317E |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Drc1 |
T |
C |
5: 30,513,057 (GRCm39) |
V377A |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,404 (GRCm39) |
N326D |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,142,197 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Gtpbp3 |
C |
T |
8: 71,944,111 (GRCm39) |
T285I |
probably damaging |
Het |
| Hnrnpul1 |
T |
C |
7: 25,426,237 (GRCm39) |
D538G |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,991 (GRCm39) |
S582N |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,535,437 (GRCm39) |
V107A |
possibly damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,806,601 (GRCm39) |
L270Q |
possibly damaging |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lpcat3 |
C |
T |
6: 124,680,187 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
G |
A |
2: 40,501,446 (GRCm39) |
T219I |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or7g30 |
C |
T |
9: 19,353,031 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,581 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,593,958 (GRCm39) |
Y568C |
probably damaging |
Het |
| Ssc4d |
T |
C |
5: 135,990,778 (GRCm39) |
E470G |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,928,428 (GRCm39) |
V2614G |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,959 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
|
| Other mutations in Rorc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Rorc
|
APN |
3 |
94,296,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
beto
|
UTSW |
3 |
94,284,915 (GRCm39) |
splice site |
probably null |
|
|
brazil
|
UTSW |
3 |
94,296,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cashew
|
UTSW |
3 |
94,298,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
chestnut
|
UTSW |
3 |
94,284,916 (GRCm39) |
splice site |
probably benign |
|
|
macadamias
|
UTSW |
3 |
94,304,609 (GRCm39) |
nonsense |
probably null |
|
|
macadamias2
|
UTSW |
3 |
94,294,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Rorc
|
UTSW |
3 |
94,284,920 (GRCm39) |
splice site |
probably benign |
|
|
R0115:Rorc
|
UTSW |
3 |
94,284,916 (GRCm39) |
splice site |
probably benign |
|
|
R0365:Rorc
|
UTSW |
3 |
94,296,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Rorc
|
UTSW |
3 |
94,304,609 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Rorc
|
UTSW |
3 |
94,304,609 (GRCm39) |
nonsense |
probably null |
|
|
R1914:Rorc
|
UTSW |
3 |
94,298,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Rorc
|
UTSW |
3 |
94,298,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Rorc
|
UTSW |
3 |
94,296,833 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2510:Rorc
|
UTSW |
3 |
94,296,427 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4135:Rorc
|
UTSW |
3 |
94,296,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Rorc
|
UTSW |
3 |
94,296,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4701:Rorc
|
UTSW |
3 |
94,299,017 (GRCm39) |
missense |
probably null |
1.00 |
|
R5014:Rorc
|
UTSW |
3 |
94,298,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5233:Rorc
|
UTSW |
3 |
94,304,632 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6758:Rorc
|
UTSW |
3 |
94,294,825 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7069:Rorc
|
UTSW |
3 |
94,280,214 (GRCm39) |
nonsense |
probably null |
|
|
R7162:Rorc
|
UTSW |
3 |
94,284,915 (GRCm39) |
splice site |
probably null |
|
|
R7169:Rorc
|
UTSW |
3 |
94,296,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7730:Rorc
|
UTSW |
3 |
94,300,421 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7922:Rorc
|
UTSW |
3 |
94,298,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8365:Rorc
|
UTSW |
3 |
94,282,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9354:Rorc
|
UTSW |
3 |
94,280,170 (GRCm39) |
unclassified |
probably benign |
|
|
X0063:Rorc
|
UTSW |
3 |
94,299,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTGGAGCTCACTGAAGAAG -3'
(R):5'- CTCCAATTCATGTGCACTGGTC -3'
Sequencing Primer
(F):5'- GGCTCATGGTAGTGAAATC -3'
(R):5'- CAATTCATGTGCACTGGTCTCAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation