Incidental Mutation 'R5350:Nr4a2'
| ID |
423733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr4a2
|
| Ensembl Gene |
ENSMUSG00000026826 |
| Gene Name |
nuclear receptor subfamily 4, group A, member 2 |
| Synonyms |
HZF-3, Nurr1, RNR-1 |
| MMRRC Submission |
042929-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
56996845-57014018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57001877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 192
(M192T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028166]
[ENSMUST00000112627]
[ENSMUST00000112629]
[ENSMUST00000183542]
|
| AlphaFold |
Q06219 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028166
AA Change: M192T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028166
Gene: ENSMUSG00000026826
AA Change: M192T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
134 |
N/A |
INTRINSIC |
|
ZnF_C4
|
260 |
331 |
2.45e-39 |
SMART |
|
low complexity region
|
346 |
363 |
N/A |
INTRINSIC |
|
HOLI
|
408 |
566 |
1.03e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112627
AA Change: M129T
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108246
Gene: ENSMUSG00000026826
AA Change: M129T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
|
ZnF_C4
|
197 |
268 |
2.45e-39 |
SMART |
|
low complexity region
|
283 |
300 |
N/A |
INTRINSIC |
|
HOLI
|
345 |
503 |
1.03e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112629
AA Change: M192T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108248
Gene: ENSMUSG00000026826
AA Change: M192T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
134 |
N/A |
INTRINSIC |
|
ZnF_C4
|
260 |
331 |
2.45e-39 |
SMART |
|
low complexity region
|
346 |
363 |
N/A |
INTRINSIC |
|
HOLI
|
408 |
566 |
1.03e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140165
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183542
AA Change: M129T
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138824
Gene: ENSMUSG00000026826
AA Change: M129T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
|
ZnF_C4
|
197 |
268 |
2.45e-39 |
SMART |
|
low complexity region
|
283 |
300 |
N/A |
INTRINSIC |
|
Pfam:Hormone_recep
|
322 |
392 |
9.1e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| 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. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene fail to develop dopaminergic neurons in the mesencephalon and die within the first 12 hours of life. Heterozygotes suffer from reduced motor performance in old age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,006,364 (GRCm39) |
V1247A |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,106,699 (GRCm39) |
M133L |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,382,612 (GRCm39) |
A2100V |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,901,315 (GRCm39) |
K921* |
probably null |
Het |
| Ankrd55 |
T |
G |
13: 112,472,760 (GRCm39) |
V144G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,115,088 (GRCm39) |
L976P |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,301,368 (GRCm39) |
V814E |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,736,199 (GRCm39) |
M960K |
probably damaging |
Het |
| Bag1 |
C |
T |
4: 40,948,007 (GRCm39) |
G66S |
possibly damaging |
Het |
| Bmp8a |
A |
T |
4: 123,207,088 (GRCm39) |
M391K |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,889,551 (GRCm39) |
R216L |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,978,515 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,070,465 (GRCm39) |
F75L |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,666,405 (GRCm39) |
D21E |
possibly damaging |
Het |
| Dach1 |
G |
T |
14: 98,207,395 (GRCm39) |
A318E |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,780 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,618,056 (GRCm39) |
T201A |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,406,862 (GRCm39) |
D214E |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,272,849 (GRCm39) |
G2326C |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,665 (GRCm39) |
F356S |
probably damaging |
Het |
| Duxf3 |
C |
A |
10: 58,066,915 (GRCm39) |
S528I |
probably damaging |
Het |
| Ell |
T |
A |
8: 70,992,439 (GRCm39) |
V28E |
probably damaging |
Het |
| Evi5 |
C |
T |
5: 107,963,544 (GRCm39) |
D344N |
probably benign |
Het |
| Fv1 |
G |
T |
4: 147,954,546 (GRCm39) |
V371L |
possibly damaging |
Het |
| Gemin5 |
A |
G |
11: 58,032,412 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
T |
9: 61,967,587 (GRCm39) |
Y521* |
probably null |
Het |
| Grn |
T |
A |
11: 102,327,070 (GRCm39) |
L556Q |
possibly damaging |
Het |
| Icam1 |
C |
A |
9: 20,939,182 (GRCm39) |
Y518* |
probably null |
Het |
| Jag2 |
A |
T |
12: 112,872,542 (GRCm39) |
S1237R |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,251 (GRCm39) |
M1K |
probably null |
Het |
| Nbea |
T |
C |
3: 55,926,845 (GRCm39) |
E786G |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,003,879 (GRCm39) |
T225A |
probably benign |
Het |
| Or4a73 |
T |
A |
2: 89,421,432 (GRCm39) |
E9V |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,766 (GRCm39) |
H26L |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,912 (GRCm39) |
M1K |
probably null |
Het |
| Pcnx4 |
A |
C |
12: 72,626,138 (GRCm39) |
N1115H |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,442,134 (GRCm39) |
S585P |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,648,853 (GRCm39) |
S1024N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,092,383 (GRCm39) |
E145K |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,361,513 (GRCm39) |
T539S |
probably benign |
Het |
| Rit2 |
A |
G |
18: 31,449,905 (GRCm39) |
V31A |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,531,663 (GRCm39) |
P780S |
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,614,838 (GRCm39) |
T336K |
possibly damaging |
Het |
| Smo |
A |
T |
6: 29,754,466 (GRCm39) |
Q232L |
probably benign |
Het |
| Stx2 |
T |
C |
5: 129,068,155 (GRCm39) |
D184G |
probably damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,746 (GRCm39) |
Y48C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
|
| Other mutations in Nr4a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Nr4a2
|
APN |
2 |
56,999,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01148:Nr4a2
|
APN |
2 |
57,001,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01395:Nr4a2
|
APN |
2 |
57,002,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02123:Nr4a2
|
APN |
2 |
57,001,667 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02311:Nr4a2
|
APN |
2 |
57,001,743 (GRCm39) |
missense |
probably benign |
|
|
IGL02698:Nr4a2
|
APN |
2 |
56,998,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03178:Nr4a2
|
APN |
2 |
57,000,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03261:Nr4a2
|
APN |
2 |
57,000,199 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0025:Nr4a2
|
UTSW |
2 |
56,998,627 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0078:Nr4a2
|
UTSW |
2 |
57,002,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1138:Nr4a2
|
UTSW |
2 |
57,002,391 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1222:Nr4a2
|
UTSW |
2 |
56,998,336 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1418:Nr4a2
|
UTSW |
2 |
56,998,336 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1755:Nr4a2
|
UTSW |
2 |
56,999,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2265:Nr4a2
|
UTSW |
2 |
57,002,018 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2266:Nr4a2
|
UTSW |
2 |
57,002,018 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2267:Nr4a2
|
UTSW |
2 |
57,002,018 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2281:Nr4a2
|
UTSW |
2 |
57,002,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4191:Nr4a2
|
UTSW |
2 |
57,002,391 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4706:Nr4a2
|
UTSW |
2 |
57,002,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Nr4a2
|
UTSW |
2 |
57,002,105 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4745:Nr4a2
|
UTSW |
2 |
57,000,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Nr4a2
|
UTSW |
2 |
57,002,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5495:Nr4a2
|
UTSW |
2 |
57,002,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Nr4a2
|
UTSW |
2 |
56,998,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6156:Nr4a2
|
UTSW |
2 |
57,002,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6325:Nr4a2
|
UTSW |
2 |
57,002,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6674:Nr4a2
|
UTSW |
2 |
57,002,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Nr4a2
|
UTSW |
2 |
57,001,920 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6968:Nr4a2
|
UTSW |
2 |
56,998,758 (GRCm39) |
splice site |
probably null |
|
|
R7135:Nr4a2
|
UTSW |
2 |
57,002,261 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7256:Nr4a2
|
UTSW |
2 |
57,002,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7495:Nr4a2
|
UTSW |
2 |
57,002,171 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7596:Nr4a2
|
UTSW |
2 |
56,998,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Nr4a2
|
UTSW |
2 |
57,002,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7812:Nr4a2
|
UTSW |
2 |
57,002,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Nr4a2
|
UTSW |
2 |
57,002,255 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9208:Nr4a2
|
UTSW |
2 |
56,999,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Nr4a2
|
UTSW |
2 |
57,002,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9564:Nr4a2
|
UTSW |
2 |
57,000,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nr4a2
|
UTSW |
2 |
57,001,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGCAGCCCTCACAAGTG -3'
(R):5'- AGCTTCCAGGTGCAGCATAG -3'
Sequencing Primer
(F):5'- GCGTTGTCACCGCAAACAG -3'
(R):5'- TGCAGCATAGCCCGATGTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation