Incidental Mutation 'IGL02688:Nr5a2'
| ID |
303644 |
| 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 # |
IGL02688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
136770309-136888186 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 136868145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027649]
[ENSMUST00000168126]
[ENSMUST00000192357]
[ENSMUST00000192929]
[ENSMUST00000195428]
|
| AlphaFold |
P45448 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027649
|
| SMART Domains |
Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
| 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 null
Transcript: ENSMUST00000168126
|
| SMART Domains |
Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
| 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 null
Transcript: ENSMUST00000192357
|
| SMART Domains |
Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
| 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 null
Transcript: ENSMUST00000192929
|
| SMART Domains |
Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
| 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 benign
Transcript: ENSMUST00000195428
|
| SMART Domains |
Protein: ENSMUSP00000141645
Gene: ENSMUSG00000026398
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
43 |
114 |
1.1e-42 |
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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
C |
A |
8: 41,279,357 (GRCm39) |
R583S |
probably benign |
Het |
| Bcl9l |
C |
T |
9: 44,416,560 (GRCm39) |
T211I |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,827,802 (GRCm39) |
I724V |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,247,710 (GRCm39) |
|
probably null |
Het |
| Casp4 |
A |
G |
9: 5,322,844 (GRCm39) |
E40G |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,483,631 (GRCm39) |
M3382R |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,235,033 (GRCm39) |
L3526P |
probably damaging |
Het |
| Eya4 |
A |
G |
10: 23,035,008 (GRCm39) |
S116P |
probably benign |
Het |
| Gabra4 |
T |
A |
5: 71,729,510 (GRCm39) |
E423D |
probably benign |
Het |
| Ighv1-67 |
T |
G |
12: 115,567,643 (GRCm39) |
T90P |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,266,471 (GRCm39) |
T828A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,921,287 (GRCm39) |
P1237S |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,920,792 (GRCm39) |
D215G |
probably damaging |
Het |
| Phf2 |
G |
T |
13: 48,959,315 (GRCm39) |
P897Q |
unknown |
Het |
| Pla2r1 |
T |
C |
2: 60,285,545 (GRCm39) |
R690G |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,445,314 (GRCm39) |
S181P |
possibly damaging |
Het |
| Sele |
A |
T |
1: 163,877,699 (GRCm39) |
I165F |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,141,625 (GRCm39) |
S1626P |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,959,285 (GRCm39) |
I1088T |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,775,927 (GRCm39) |
S69G |
probably damaging |
Het |
| Trmt5 |
C |
A |
12: 73,328,232 (GRCm39) |
E324* |
probably null |
Het |
| Ttll3 |
T |
C |
6: 113,376,700 (GRCm39) |
I360T |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,378,687 (GRCm39) |
V390A |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation