Incidental Mutation 'IGL00799:Nr5a2'
| ID |
12778 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nr5a2
|
| Ensembl Gene |
ENSMUSG00000026398 |
| Gene Name |
nuclear receptor subfamily 5, group A, member 2 |
| Synonyms |
D1Ertd308e, UF2-H3B, Ftf, LRH-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00799
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
136770309-136888186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136818536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 330
(D330V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027649]
[ENSMUST00000168126]
[ENSMUST00000192357]
[ENSMUST00000192929]
|
| AlphaFold |
P45448 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027649
AA Change: D391V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: D391V
| 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 |
probably damaging
Transcript: ENSMUST00000168126
AA Change: D330V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: D330V
| 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 |
probably damaging
Transcript: ENSMUST00000192357
AA Change: D370V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: D370V
| 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 |
noncoding transcript
Transcript: ENSMUST00000192587
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192929
AA Change: D330V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: D330V
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
A |
T |
4: 144,281,843 (GRCm39) |
H316Q |
probably benign |
Het |
| Boc |
G |
T |
16: 44,313,318 (GRCm39) |
D515E |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,934,678 (GRCm39) |
|
probably null |
Het |
| Ctcf |
A |
G |
8: 106,403,968 (GRCm39) |
D608G |
unknown |
Het |
| Dab2ip |
A |
G |
2: 35,597,787 (GRCm39) |
I99V |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,828,047 (GRCm39) |
I981F |
possibly damaging |
Het |
| Ehd2 |
C |
T |
7: 15,697,392 (GRCm39) |
A139T |
possibly damaging |
Het |
| Fam151b |
C |
A |
13: 92,614,361 (GRCm39) |
K42N |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,589,872 (GRCm39) |
D1002E |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,028,222 (GRCm39) |
Y290C |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,522,786 (GRCm39) |
S155G |
probably benign |
Het |
| Hp |
A |
G |
8: 110,302,250 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
C |
6: 115,854,497 (GRCm39) |
S112P |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,794,452 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
T |
A |
15: 55,480,904 (GRCm39) |
L290* |
probably null |
Het |
| R3hdm1 |
T |
A |
1: 128,102,700 (GRCm39) |
L157Q |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,839,521 (GRCm39) |
D116E |
possibly damaging |
Het |
| Slc23a3 |
A |
T |
1: 75,109,925 (GRCm39) |
I114N |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,347,878 (GRCm38) |
I1140L |
probably benign |
Het |
|
| Other mutations in Nr5a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0356:Nr5a2
|
UTSW |
1 |
136,773,430 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation