Incidental Mutation 'R0356:Nr5a2'
ID |
29808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nr5a2
|
Ensembl Gene |
ENSMUSG00000026398 |
Gene Name |
nuclear receptor subfamily 5, group A, member 2 |
Synonyms |
D1Ertd308e, UF2-H3B, Ftf, LRH-1 |
MMRRC Submission |
038562-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0356 (G1)
|
Quality Score |
193 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
136770309-136888186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136773430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 424
(N424S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027649]
[ENSMUST00000168126]
[ENSMUST00000192357]
[ENSMUST00000192929]
|
AlphaFold |
P45448 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027649
AA Change: N485S
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027649 Gene: ENSMUSG00000026398 AA Change: N485S
Domain | Start | End | E-Value | Type |
ZnF_C4
|
104 |
175 |
2.85e-40 |
SMART |
Blast:HOLI
|
196 |
247 |
1e-5 |
BLAST |
low complexity region
|
290 |
302 |
N/A |
INTRINSIC |
HOLI
|
366 |
529 |
4.13e-46 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168126
AA Change: N424S
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129071 Gene: ENSMUSG00000026398 AA Change: N424S
Domain | Start | End | E-Value | Type |
ZnF_C4
|
43 |
114 |
2.85e-40 |
SMART |
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
HOLI
|
305 |
468 |
4.13e-46 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192357
AA Change: N464S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142219 Gene: ENSMUSG00000026398 AA Change: N464S
Domain | Start | End | E-Value | Type |
ZnF_C4
|
83 |
154 |
1.1e-42 |
SMART |
Blast:HOLI
|
175 |
226 |
1e-5 |
BLAST |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
HOLI
|
345 |
508 |
1.7e-48 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192929
AA Change: N424S
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141495 Gene: ENSMUSG00000026398 AA Change: N424S
Domain | Start | End | E-Value | Type |
ZnF_C4
|
43 |
114 |
2.85e-40 |
SMART |
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
HOLI
|
305 |
468 |
4.13e-46 |
SMART |
|
Meta Mutation Damage Score |
0.2035 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
100% (47/47) |
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 zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016] PHENOTYPE: Mice homozygous for disruptions in this gene die around embryonic day 7.5. Heterozygotes are essentially normal but with lower plasma cholesterol, increased bile acids, and shorter intestinal crypt length. [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 |
9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
probably benign |
Het |
|
Other mutations in Nr5a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00799:Nr5a2
|
APN |
1 |
136,818,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01082:Nr5a2
|
APN |
1 |
136,773,206 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02547:Nr5a2
|
APN |
1 |
136,868,665 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02688:Nr5a2
|
APN |
1 |
136,868,145 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02712:Nr5a2
|
APN |
1 |
136,868,266 (GRCm39) |
splice site |
probably null |
|
aggressivity
|
UTSW |
1 |
136,810,082 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0653:Nr5a2
|
UTSW |
1 |
136,876,543 (GRCm39) |
missense |
probably benign |
0.04 |
R1111:Nr5a2
|
UTSW |
1 |
136,810,159 (GRCm39) |
splice site |
probably null |
|
R1728:Nr5a2
|
UTSW |
1 |
136,879,863 (GRCm39) |
missense |
probably benign |
|
R1729:Nr5a2
|
UTSW |
1 |
136,879,863 (GRCm39) |
missense |
probably benign |
|
R1730:Nr5a2
|
UTSW |
1 |
136,879,863 (GRCm39) |
missense |
probably benign |
|
R1739:Nr5a2
|
UTSW |
1 |
136,879,863 (GRCm39) |
missense |
probably benign |
|
R1762:Nr5a2
|
UTSW |
1 |
136,879,863 (GRCm39) |
missense |
probably benign |
|
R1783:Nr5a2
|
UTSW |
1 |
136,879,863 (GRCm39) |
missense |
probably benign |
|
R1784:Nr5a2
|
UTSW |
1 |
136,879,863 (GRCm39) |
missense |
probably benign |
|
R1785:Nr5a2
|
UTSW |
1 |
136,879,863 (GRCm39) |
missense |
probably benign |
|
R1927:Nr5a2
|
UTSW |
1 |
136,872,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R2360:Nr5a2
|
UTSW |
1 |
136,876,565 (GRCm39) |
missense |
probably benign |
|
R3408:Nr5a2
|
UTSW |
1 |
136,868,236 (GRCm39) |
missense |
probably benign |
|
R4662:Nr5a2
|
UTSW |
1 |
136,868,167 (GRCm39) |
missense |
probably benign |
0.00 |
R4861:Nr5a2
|
UTSW |
1 |
136,876,458 (GRCm39) |
critical splice donor site |
probably null |
|
R4861:Nr5a2
|
UTSW |
1 |
136,876,458 (GRCm39) |
critical splice donor site |
probably null |
|
R5176:Nr5a2
|
UTSW |
1 |
136,876,540 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
R5999:Nr5a2
|
UTSW |
1 |
136,773,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6191:Nr5a2
|
UTSW |
1 |
136,818,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Nr5a2
|
UTSW |
1 |
136,887,976 (GRCm39) |
missense |
probably benign |
0.00 |
R6747:Nr5a2
|
UTSW |
1 |
136,810,082 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8170:Nr5a2
|
UTSW |
1 |
136,868,385 (GRCm39) |
missense |
probably benign |
0.06 |
R9013:Nr5a2
|
UTSW |
1 |
136,872,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R9556:Nr5a2
|
UTSW |
1 |
136,818,460 (GRCm39) |
missense |
possibly damaging |
0.62 |
X0012:Nr5a2
|
UTSW |
1 |
136,871,030 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Nr5a2
|
UTSW |
1 |
136,868,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTATAGGGCACATCCCCGTTCACG -3'
(R):5'- GGACACAGATTTCACCTTGGGTCAG -3'
Sequencing Primer
(F):5'- ACGTGCTTATAGTACAGGTAGTC -3'
(R):5'- TCCCTGGAAGCTTGGTAAAC -3'
|
Posted On |
2013-04-24 |