Incidental Mutation 'R9556:Nr5a2'
| ID |
720736 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
136770309-136888186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136818460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 416
(H416Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027649]
[ENSMUST00000168126]
[ENSMUST00000192357]
[ENSMUST00000192929]
|
| AlphaFold |
P45448 |
| PDB Structure |
Crystal structure of the orphan nuclear receptor LRH-1 [X-RAY DIFFRACTION]
Structural and Biochemical Basis for Selective Repression of the Orphan Nuclear Receptor LRH-1 by SHP [X-RAY DIFFRACTION]
Structure of Dax-1:LRH-1 complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027649
AA Change: H416Q
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: H416Q
| 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: H355Q
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: H355Q
| 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: H395Q
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: H395Q
| 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: H355Q
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: H355Q
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
T |
9: 104,197,178 (GRCm39) |
Y183N |
probably damaging |
Het |
| Agtr1a |
A |
T |
13: 30,565,073 (GRCm39) |
N46I |
probably damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,600,756 (GRCm39) |
V191A |
possibly damaging |
Het |
| Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ddb2 |
G |
T |
2: 91,065,202 (GRCm39) |
Y74* |
probably null |
Het |
| Ddx11 |
A |
G |
17: 66,447,207 (GRCm39) |
T436A |
probably benign |
Het |
| Edc4 |
TAGCAGCAGCAGCAGCAGCAGCAGC |
TAGCAGCAGCAGCAGCAGCAGC |
8: 106,615,067 (GRCm39) |
|
probably benign |
Het |
| Eif1ad18 |
G |
A |
12: 88,050,510 (GRCm39) |
G15D |
probably damaging |
Het |
| Ghdc |
A |
T |
11: 100,658,861 (GRCm39) |
C424S |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gm7347 |
G |
A |
5: 26,259,996 (GRCm39) |
R185C |
probably benign |
Het |
| Gys2 |
C |
T |
6: 142,374,377 (GRCm39) |
R556H |
probably damaging |
Het |
| Hoxa1 |
ATGGTGGTGGTGGTGGTGGTGGTGGTGG |
ATGGTGGTGGTGGTGGTGGTGGTGG |
6: 52,134,983 (GRCm39) |
|
probably benign |
Het |
| Igsf21 |
A |
C |
4: 139,762,014 (GRCm39) |
D221E |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,117 (GRCm39) |
D33E |
possibly damaging |
Het |
| Kcnu1 |
A |
C |
8: 26,348,154 (GRCm39) |
I107L |
probably damaging |
Het |
| Mme |
C |
A |
3: 63,272,225 (GRCm39) |
T608K |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,278,263 (GRCm39) |
I774K |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,569,934 (GRCm39) |
S862P |
unknown |
Het |
| Ncbp2 |
T |
A |
16: 31,775,758 (GRCm39) |
V134D |
probably damaging |
Het |
| Nsmaf |
A |
T |
4: 6,408,637 (GRCm39) |
M714K |
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,479,444 (GRCm39) |
N420D |
possibly damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,938 (GRCm39) |
I196T |
probably benign |
Het |
| Or7e176 |
G |
T |
9: 20,171,651 (GRCm39) |
V172L |
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,666,758 (GRCm39) |
T1096A |
probably benign |
Het |
| Ppp1r14a |
A |
G |
7: 28,988,944 (GRCm39) |
E62G |
probably damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,039 (GRCm39) |
V109E |
unknown |
Het |
| Slc26a1 |
T |
C |
5: 108,820,404 (GRCm39) |
N281S |
|
Het |
| Slc35a3 |
T |
A |
3: 116,474,763 (GRCm39) |
I210F |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,201,905 (GRCm39) |
D16E |
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,467,053 (GRCm39) |
A638T |
probably damaging |
Het |
| Tes |
A |
T |
6: 17,096,233 (GRCm39) |
T74S |
probably benign |
Het |
| Ugt2a2 |
G |
A |
5: 87,609,821 (GRCm39) |
T420I |
probably damaging |
Het |
| Washc5 |
T |
C |
15: 59,218,716 (GRCm39) |
T684A |
possibly damaging |
Het |
| Zfp160 |
A |
G |
17: 21,247,031 (GRCm39) |
N527S |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 82,974,965 (GRCm39) |
P388T |
probably benign |
Het |
| Zfp719 |
G |
A |
7: 43,239,072 (GRCm39) |
C220Y |
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 |
|
|
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 |
|
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'- GACCCAAGTCATCATTTCTGCC -3'
(R):5'- AATGTGTTCTCTAGGAGCTGC -3'
Sequencing Primer
(F):5'- CTTTCAAAGCACAAGAGGGCTTCTG -3'
(R):5'- CTCTAGGAGCTGCCATGTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation