Incidental Mutation 'R4246:Nr4a3'
| ID |
320416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr4a3
|
| Ensembl Gene |
ENSMUSG00000028341 |
| Gene Name |
nuclear receptor subfamily 4, group A, member 3 |
| Synonyms |
MINOR, Nor1, NOR-1, TEC |
| MMRRC Submission |
041062-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
48045153-48086447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 48083125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 553
(P553S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030025]
|
| AlphaFold |
Q9QZB6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030025
AA Change: P553S
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: P553S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
1 |
43 |
4e-18 |
BLAST |
|
low complexity region
|
99 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
288 |
N/A |
INTRINSIC |
|
ZnF_C4
|
290 |
361 |
4.57e-39 |
SMART |
|
low complexity region
|
376 |
396 |
N/A |
INTRINSIC |
|
HOLI
|
440 |
595 |
2.46e-21 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153369
AA Change: P582S
|
| SMART Domains |
Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: P582S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOLI
|
30 |
73 |
8e-19 |
BLAST |
|
low complexity region
|
129 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
318 |
N/A |
INTRINSIC |
|
ZnF_C4
|
320 |
391 |
4.57e-39 |
SMART |
|
low complexity region
|
406 |
426 |
N/A |
INTRINSIC |
|
HOLI
|
470 |
625 |
2.46e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the NR4A subfamily of nuclear hormone receptors that bind to DNA and modulate gene expression. The encoded protein has been implicated in T and B lymphocyte apoptosis, and immune cell proliferation. Mice lacking the encoded protein exhibit partial bidirectional circling behavior and inner ear dysfunction. Disruption of this gene in mice also results in defective hippocampal axonal growth and postnatal neuronal cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit defects in the semicircular canals of the inner ear and bidirectional circling behavior. Mice homozygous for another null allele display embryonic lethality with impaired cell migration during gastrulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,384 (GRCm39) |
T151A |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,658,557 (GRCm39) |
D2189G |
probably damaging |
Het |
| Ccdc91 |
C |
T |
6: 147,493,646 (GRCm39) |
A346V |
unknown |
Het |
| Dnah6 |
C |
T |
6: 73,106,431 (GRCm39) |
E1769K |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,750,786 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Glyatl3 |
T |
A |
17: 41,220,989 (GRCm39) |
D126V |
probably benign |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Igkv8-21 |
T |
A |
6: 70,292,436 (GRCm39) |
M1L |
possibly damaging |
Het |
| Itih4 |
C |
A |
14: 30,613,359 (GRCm39) |
H261N |
probably damaging |
Het |
| Jpt1 |
T |
C |
11: 115,405,119 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Klhl32 |
A |
C |
4: 24,800,822 (GRCm39) |
S3A |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,737,970 (GRCm39) |
|
probably benign |
Het |
| Lamtor5 |
T |
C |
3: 107,186,354 (GRCm39) |
V41A |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Lrfn1 |
G |
T |
7: 28,159,367 (GRCm39) |
V429L |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,508 (GRCm39) |
I252N |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 34,056,373 (GRCm39) |
F464S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,361,916 (GRCm39) |
L1454F |
probably damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,198 (GRCm39) |
T187I |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,624 (GRCm39) |
C147S |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,125,950 (GRCm39) |
E144G |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pira1 |
C |
T |
7: 3,740,348 (GRCm39) |
G291E |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,780 (GRCm39) |
E378V |
probably damaging |
Het |
| Psd2 |
T |
C |
18: 36,139,172 (GRCm39) |
L540P |
probably damaging |
Het |
| Rnf14 |
T |
A |
18: 38,434,701 (GRCm39) |
|
probably null |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,995 (GRCm39) |
V783I |
probably benign |
Het |
| Snca |
T |
C |
6: 60,710,149 (GRCm39) |
E110G |
possibly damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,096,856 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tuft1 |
C |
A |
3: 94,522,108 (GRCm39) |
M319I |
probably benign |
Het |
| Vill |
C |
A |
9: 118,889,461 (GRCm39) |
N132K |
probably damaging |
Het |
| Wars2 |
T |
A |
3: 99,123,904 (GRCm39) |
V255E |
probably damaging |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nr4a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Nr4a3
|
APN |
4 |
48,051,586 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01407:Nr4a3
|
APN |
4 |
48,083,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01454:Nr4a3
|
APN |
4 |
48,067,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01472:Nr4a3
|
APN |
4 |
48,071,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Nr4a3
|
APN |
4 |
48,051,649 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03401:Nr4a3
|
APN |
4 |
48,070,987 (GRCm39) |
splice site |
probably null |
|
|
bulbous
|
UTSW |
4 |
48,083,255 (GRCm39) |
missense |
probably damaging |
0.98 |
|
cronus
|
UTSW |
4 |
48,056,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Nr4a3
|
UTSW |
4 |
48,051,585 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0486:Nr4a3
|
UTSW |
4 |
48,056,525 (GRCm39) |
splice site |
probably benign |
|
|
R0610:Nr4a3
|
UTSW |
4 |
48,051,903 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1170:Nr4a3
|
UTSW |
4 |
48,083,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1170:Nr4a3
|
UTSW |
4 |
48,051,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1440:Nr4a3
|
UTSW |
4 |
48,051,777 (GRCm39) |
missense |
probably benign |
|
|
R1977:Nr4a3
|
UTSW |
4 |
48,056,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Nr4a3
|
UTSW |
4 |
48,083,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Nr4a3
|
UTSW |
4 |
48,067,807 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2055:Nr4a3
|
UTSW |
4 |
48,067,771 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3707:Nr4a3
|
UTSW |
4 |
48,056,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3708:Nr4a3
|
UTSW |
4 |
48,056,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4657:Nr4a3
|
UTSW |
4 |
48,051,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Nr4a3
|
UTSW |
4 |
48,051,651 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5434:Nr4a3
|
UTSW |
4 |
48,067,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5539:Nr4a3
|
UTSW |
4 |
48,056,525 (GRCm39) |
splice site |
probably null |
|
|
R5663:Nr4a3
|
UTSW |
4 |
48,055,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Nr4a3
|
UTSW |
4 |
48,083,255 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6664:Nr4a3
|
UTSW |
4 |
48,056,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6921:Nr4a3
|
UTSW |
4 |
48,051,486 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6940:Nr4a3
|
UTSW |
4 |
48,051,486 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7076:Nr4a3
|
UTSW |
4 |
48,055,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Nr4a3
|
UTSW |
4 |
48,083,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7347:Nr4a3
|
UTSW |
4 |
48,051,290 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7348:Nr4a3
|
UTSW |
4 |
48,051,290 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7349:Nr4a3
|
UTSW |
4 |
48,051,290 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7361:Nr4a3
|
UTSW |
4 |
48,083,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7365:Nr4a3
|
UTSW |
4 |
48,051,290 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7366:Nr4a3
|
UTSW |
4 |
48,051,290 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7418:Nr4a3
|
UTSW |
4 |
48,051,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Nr4a3
|
UTSW |
4 |
48,051,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Nr4a3
|
UTSW |
4 |
48,051,390 (GRCm39) |
missense |
probably benign |
|
|
R7986:Nr4a3
|
UTSW |
4 |
48,055,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Nr4a3
|
UTSW |
4 |
48,051,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Nr4a3
|
UTSW |
4 |
48,056,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8328:Nr4a3
|
UTSW |
4 |
48,051,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8349:Nr4a3
|
UTSW |
4 |
48,052,170 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8403:Nr4a3
|
UTSW |
4 |
48,051,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Nr4a3
|
UTSW |
4 |
48,052,170 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8941:Nr4a3
|
UTSW |
4 |
48,051,756 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9026:Nr4a3
|
UTSW |
4 |
48,052,194 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9045:Nr4a3
|
UTSW |
4 |
48,067,694 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9473:Nr4a3
|
UTSW |
4 |
48,052,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9572:Nr4a3
|
UTSW |
4 |
48,051,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Nr4a3
|
UTSW |
4 |
48,051,353 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCAGTGATTTCCACCCC -3'
(R):5'- GTACCAAGTCCTCTAGCTTCAGG -3'
Sequencing Primer
(F):5'- TCCTGTATCAAGCCAAGTGG -3'
(R):5'- TTCAGGTAGAAGATGCGCTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation