Incidental Mutation 'IGL02712:Nr5a2'
| ID |
304596 |
| 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 # |
IGL02712
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
136770309-136888186 bp(-) (GRCm39) |
| Type of Mutation |
splice site (457 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 136868266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027649]
[ENSMUST00000168126]
[ENSMUST00000192357]
[ENSMUST00000192929]
[ENSMUST00000195428]
|
| AlphaFold |
P45448 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027649
AA Change: S350G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: S350G
| 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 benign
Transcript: ENSMUST00000168126
AA Change: S289G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: S289G
| 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: ENSMUST00000192357
AA Change: S329G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: S329G
| 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 benign
Transcript: ENSMUST00000192929
AA Change: S289G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: S289G
| 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: 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angel1 |
A |
G |
12: 86,769,613 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
T |
A |
17: 80,667,802 (GRCm39) |
V289D |
probably damaging |
Het |
| Cabp5 |
A |
G |
7: 13,137,271 (GRCm39) |
M93V |
probably damaging |
Het |
| Ces1a |
A |
C |
8: 93,762,668 (GRCm39) |
V201G |
probably damaging |
Het |
| Cisd1 |
A |
G |
10: 71,172,181 (GRCm39) |
F34L |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,448,386 (GRCm39) |
I213V |
probably benign |
Het |
| Ddx59 |
A |
T |
1: 136,367,519 (GRCm39) |
N542I |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,703,581 (GRCm39) |
T233A |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,860,302 (GRCm39) |
T49A |
possibly damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,926,510 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,194,225 (GRCm39) |
K610N |
probably damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,060 (GRCm39) |
Y269H |
probably damaging |
Het |
| Ifi209 |
T |
C |
1: 173,470,267 (GRCm39) |
V285A |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Map3k13 |
T |
G |
16: 21,724,005 (GRCm39) |
V329G |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,134,683 (GRCm39) |
W29R |
possibly damaging |
Het |
| Nherf1 |
T |
C |
11: 115,068,060 (GRCm39) |
V200A |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,156,820 (GRCm39) |
I213V |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,640,732 (GRCm39) |
T1033M |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,620,610 (GRCm39) |
Y885C |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,262,107 (GRCm39) |
|
probably null |
Het |
| Or1e17 |
T |
C |
11: 73,831,756 (GRCm39) |
V228A |
probably benign |
Het |
| Or8b57 |
T |
C |
9: 40,004,082 (GRCm39) |
H60R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,893,829 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,113 (GRCm39) |
S1341G |
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,447,905 (GRCm39) |
L856R |
probably benign |
Het |
| Plod1 |
A |
G |
4: 148,003,344 (GRCm39) |
F494L |
possibly damaging |
Het |
| Pnkd |
T |
A |
1: 74,389,027 (GRCm39) |
S233T |
possibly damaging |
Het |
| Rnf144b |
T |
C |
13: 47,393,255 (GRCm39) |
I198T |
probably damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,412,376 (GRCm39) |
Q179K |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,598,632 (GRCm39) |
W249* |
probably null |
Het |
| Spata32 |
T |
G |
11: 103,098,973 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,938,817 (GRCm39) |
H228Q |
probably damaging |
Het |
| Szt2 |
T |
A |
4: 118,242,030 (GRCm39) |
Q1592L |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,893,493 (GRCm39) |
I1598F |
probably damaging |
Het |
| Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
| Ttll6 |
T |
G |
11: 96,030,601 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,655 (GRCm39) |
S750P |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,842,892 (GRCm39) |
T879I |
probably 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 |
|
IGL02688:Nr5a2
|
APN |
1 |
136,868,145 (GRCm39) |
critical splice donor 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