Incidental Mutation 'R8387:Nr4a1'
| ID |
647221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr4a1
|
| Ensembl Gene |
ENSMUSG00000023034 |
| Gene Name |
nuclear receptor subfamily 4, group A, member 1 |
| Synonyms |
Hmr, NP10, GFRP1, NGFI-B, Gfrp, Nur77, TIS1, N10, Hbr-1, TR3, Hbr1 |
| MMRRC Submission |
067876-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8387 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101152150-101172676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101171053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 510
(S510P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023779]
[ENSMUST00000228985]
[ENSMUST00000230814]
|
| AlphaFold |
P12813 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023779
AA Change: S510P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023779
Gene: ENSMUSG00000023034
AA Change: S510P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
204 |
N/A |
INTRINSIC |
|
ZnF_C4
|
267 |
338 |
1.93e-37 |
SMART |
|
HOLI
|
411 |
569 |
3.77e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228985
AA Change: S510P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230814
|
| Meta Mutation Damage Score |
0.8496 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile, and display a normal HPA axis function, as well as normal thymic and peripheral T cell deletion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
| Arl14ep |
T |
C |
2: 106,799,562 (GRCm39) |
D93G |
probably damaging |
Het |
| Bcl7b |
T |
C |
5: 135,197,413 (GRCm39) |
I18T |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,390,501 (GRCm39) |
I614V |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,281,400 (GRCm39) |
I169V |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,858,877 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,050,484 (GRCm39) |
H2251Y |
possibly damaging |
Het |
| Dab2ip |
T |
A |
2: 35,609,870 (GRCm39) |
I695K |
probably damaging |
Het |
| Dhtkd1 |
C |
A |
2: 5,934,479 (GRCm39) |
L230F |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,088,600 (GRCm39) |
S353P |
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,375,253 (GRCm39) |
L157Q |
possibly damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,743,731 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
C |
5: 73,293,663 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,949,127 (GRCm39) |
*729Q |
probably null |
Het |
| Gpr63 |
G |
A |
4: 25,008,301 (GRCm39) |
V342M |
possibly damaging |
Het |
| Guf1 |
C |
T |
5: 69,723,810 (GRCm39) |
P463L |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Ifngr2 |
T |
C |
16: 91,358,535 (GRCm39) |
L245P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,236,564 (GRCm39) |
F1206L |
probably damaging |
Het |
| Ktn1 |
T |
A |
14: 47,944,744 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
A |
G |
3: 65,591,520 (GRCm39) |
K86E |
possibly damaging |
Het |
| Lrrc3 |
C |
T |
10: 77,737,346 (GRCm39) |
G30D |
possibly damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,344,897 (GRCm39) |
F765L |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,183,632 (GRCm39) |
T676A |
unknown |
Het |
| Or2o1 |
T |
C |
11: 49,051,497 (GRCm39) |
S219P |
probably damaging |
Het |
| Or4c113 |
T |
C |
2: 88,885,646 (GRCm39) |
I41M |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or51e1 |
C |
T |
7: 102,359,402 (GRCm39) |
T312I |
probably benign |
Het |
| Or5a1 |
A |
G |
19: 12,097,785 (GRCm39) |
L97P |
probably damaging |
Het |
| Pdcd1 |
G |
A |
1: 93,969,193 (GRCm39) |
L42F |
probably damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,018,490 (GRCm39) |
D621G |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pias4 |
G |
A |
10: 80,990,342 (GRCm39) |
R398C |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,219,893 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
A |
G |
1: 74,784,854 (GRCm39) |
|
probably null |
Het |
| Ptpn7 |
A |
G |
1: 135,061,606 (GRCm39) |
T23A |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,873,526 (GRCm39) |
D1069G |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,030 (GRCm39) |
Y503C |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,866,899 (GRCm39) |
D610G |
probably benign |
Het |
| Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,740,883 (GRCm39) |
F1200S |
probably damaging |
Het |
| Tox3 |
A |
G |
8: 90,984,595 (GRCm39) |
S195P |
probably benign |
Het |
| Trim44 |
T |
C |
2: 102,230,518 (GRCm39) |
E171G |
probably damaging |
Het |
| Vars1 |
T |
A |
17: 35,229,490 (GRCm39) |
M369K |
probably damaging |
Het |
| Vmn2r77 |
C |
A |
7: 86,450,947 (GRCm39) |
Q278K |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,740 (GRCm39) |
T266A |
probably damaging |
Het |
|
| Other mutations in Nr4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Nr4a1
|
APN |
15 |
101,168,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00966:Nr4a1
|
APN |
15 |
101,170,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01326:Nr4a1
|
APN |
15 |
101,171,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Nr4a1
|
UTSW |
15 |
101,168,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Nr4a1
|
UTSW |
15 |
101,169,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1854:Nr4a1
|
UTSW |
15 |
101,169,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1909:Nr4a1
|
UTSW |
15 |
101,172,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Nr4a1
|
UTSW |
15 |
101,171,948 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2392:Nr4a1
|
UTSW |
15 |
101,172,075 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2402:Nr4a1
|
UTSW |
15 |
101,169,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3001:Nr4a1
|
UTSW |
15 |
101,168,853 (GRCm39) |
splice site |
probably null |
|
|
R3002:Nr4a1
|
UTSW |
15 |
101,168,853 (GRCm39) |
splice site |
probably null |
|
|
R4190:Nr4a1
|
UTSW |
15 |
101,171,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Nr4a1
|
UTSW |
15 |
101,170,034 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6363:Nr4a1
|
UTSW |
15 |
101,171,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Nr4a1
|
UTSW |
15 |
101,168,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Nr4a1
|
UTSW |
15 |
101,169,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Nr4a1
|
UTSW |
15 |
101,168,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Nr4a1
|
UTSW |
15 |
101,168,053 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGCCAGATCTAAACCCG -3'
(R):5'- ATCCCTAAGCTAGATGCCCAGC -3'
Sequencing Primer
(F):5'- TGCCAGATCTAAACCCGGTGAG -3'
(R):5'- TACAGTCGTACCTGAGGAGTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation