Incidental Mutation 'R5176:Nr5a2'
| ID |
399247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr5a2
|
| Ensembl Gene |
ENSMUSG00000026398 |
| Gene Name |
nuclear receptor subfamily 5, group A, member 2 |
| Synonyms |
D1Ertd308e, Ftf, LRH-1, UF2-H3B |
| MMRRC Submission |
042756-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5176 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
136842571-136960448 bp(-) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 136948802 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027649]
[ENSMUST00000168126]
[ENSMUST00000192357]
[ENSMUST00000192929]
[ENSMUST00000195428]
|
| AlphaFold |
P45448 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027649
AA Change: M62K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: M62K
| 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
AA Change: M1K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: M1K
| 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: M41K
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: M41K
| 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 |
probably null
Transcript: ENSMUST00000192929
AA Change: M1K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: M1K
| 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
AA Change: M1K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141645
Gene: ENSMUSG00000026398
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
43 |
114 |
1.1e-42 |
SMART |
|
| Meta Mutation Damage Score |
0.1144 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530032D15Rik |
C |
T |
1: 85,088,800 (GRCm38) |
|
probably benign |
Het |
| Abca7 |
C |
A |
10: 79,998,289 (GRCm38) |
H116Q |
probably benign |
Het |
| Akap12 |
G |
T |
10: 4,353,947 (GRCm38) |
E252D |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,585,016 (GRCm38) |
D2G |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 43,020,686 (GRCm38) |
H168Q |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,081,357 (GRCm38) |
|
probably null |
Het |
| Brip1 |
T |
C |
11: 86,077,884 (GRCm38) |
Y825C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,635,131 (GRCm38) |
Y1679N |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 55,060,470 (GRCm38) |
A42T |
probably benign |
Het |
| Cds1 |
G |
T |
5: 101,781,420 (GRCm38) |
D55Y |
possibly damaging |
Het |
| Cep135 |
C |
A |
5: 76,637,026 (GRCm38) |
D989E |
probably benign |
Het |
| Cpsf6 |
C |
A |
10: 117,361,284 (GRCm38) |
|
probably benign |
Het |
| Ctif |
C |
T |
18: 75,637,219 (GRCm38) |
V32M |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm38) |
|
probably benign |
Het |
| Dao |
T |
C |
5: 114,020,009 (GRCm38) |
|
probably null |
Het |
| Dopey1 |
T |
A |
9: 86,521,815 (GRCm38) |
N1689K |
probably damaging |
Het |
| Dopey2 |
A |
G |
16: 93,740,043 (GRCm38) |
Y14C |
probably damaging |
Het |
| E130309D02Rik |
G |
T |
5: 143,315,075 (GRCm38) |
S7* |
probably null |
Het |
| Fam160b1 |
A |
G |
19: 57,371,181 (GRCm38) |
N51S |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,886,464 (GRCm38) |
R365C |
probably damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,731,439 (GRCm38) |
|
probably benign |
Het |
| Fkbp15 |
G |
T |
4: 62,312,323 (GRCm38) |
L718I |
possibly damaging |
Het |
| Gabbr2 |
C |
A |
4: 46,681,208 (GRCm38) |
V118F |
probably damaging |
Het |
| Gm11492 |
T |
A |
11: 87,567,532 (GRCm38) |
M244K |
probably benign |
Het |
| Gm13991 |
T |
A |
2: 116,528,027 (GRCm38) |
|
noncoding transcript |
Het |
| H2-M9 |
T |
C |
17: 36,641,631 (GRCm38) |
I174M |
probably damaging |
Het |
| Insr |
T |
A |
8: 3,158,742 (GRCm38) |
M1240L |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,984,157 (GRCm38) |
R447W |
probably benign |
Het |
| Mad2l1bp |
T |
A |
17: 46,152,812 (GRCm38) |
E95D |
probably benign |
Het |
| March9 |
T |
C |
10: 127,059,450 (GRCm38) |
D102G |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,892,180 (GRCm38) |
|
noncoding transcript |
Het |
| Nr1h4 |
T |
A |
10: 89,498,255 (GRCm38) |
Y91F |
probably benign |
Het |
| Olfr561 |
T |
A |
7: 102,775,306 (GRCm38) |
S261T |
probably damaging |
Het |
| Olfr836 |
A |
T |
9: 19,121,360 (GRCm38) |
Y132F |
probably damaging |
Het |
| Olfr998 |
A |
C |
2: 85,591,435 (GRCm38) |
K298N |
possibly damaging |
Het |
| Oprd1 |
T |
C |
4: 132,113,793 (GRCm38) |
T285A |
probably benign |
Het |
| Optc |
T |
C |
1: 133,902,084 (GRCm38) |
N196S |
probably benign |
Het |
| Panx2 |
G |
T |
15: 89,060,228 (GRCm38) |
R52L |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,344,957 (GRCm38) |
F211L |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 55,699,995 (GRCm38) |
T41S |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,184,158 (GRCm38) |
L37S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,156,415 (GRCm38) |
T870A |
probably damaging |
Het |
| Rabep2 |
C |
A |
7: 126,434,293 (GRCm38) |
|
probably benign |
Het |
| Rbm48 |
A |
C |
5: 3,595,444 (GRCm38) |
V80G |
probably damaging |
Het |
| Rhou |
G |
T |
8: 123,654,109 (GRCm38) |
C55F |
possibly damaging |
Het |
| Rnaseh2c |
A |
G |
19: 5,602,042 (GRCm38) |
D45G |
probably benign |
Het |
| Rusc1 |
A |
G |
3: 89,089,082 (GRCm38) |
S109P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,757,667 (GRCm38) |
D2643G |
possibly damaging |
Het |
| Sik2 |
T |
C |
9: 50,899,403 (GRCm38) |
E471G |
probably benign |
Het |
| Sipa1 |
A |
G |
19: 5,659,378 (GRCm38) |
S310P |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,476,276 (GRCm38) |
E1680G |
unknown |
Het |
| Steap3 |
C |
T |
1: 120,243,767 (GRCm38) |
|
probably null |
Het |
| Tmeff2 |
T |
A |
1: 51,071,541 (GRCm38) |
C171* |
probably null |
Het |
| Tmem138 |
A |
T |
19: 10,575,270 (GRCm38) |
M33K |
probably benign |
Het |
| Trappc11 |
C |
A |
8: 47,510,963 (GRCm38) |
V601L |
possibly damaging |
Het |
| Ttc30a2 |
T |
C |
2: 75,977,077 (GRCm38) |
M364V |
probably benign |
Het |
| Ttll4 |
C |
A |
1: 74,679,286 (GRCm38) |
H99N |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,235,740 (GRCm38) |
K168* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 54,653,878 (GRCm38) |
|
probably null |
Het |
| Xpo1 |
A |
G |
11: 23,295,977 (GRCm38) |
D1029G |
probably damaging |
Het |
| Zfp719 |
G |
T |
7: 43,591,125 (GRCm38) |
K712N |
probably damaging |
Het |
|
| Other mutations in Nr5a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Nr5a2
|
APN |
1 |
136,890,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01082:Nr5a2
|
APN |
1 |
136,845,468 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02547:Nr5a2
|
APN |
1 |
136,940,927 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02688:Nr5a2
|
APN |
1 |
136,940,407 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02712:Nr5a2
|
APN |
1 |
136,940,528 (GRCm38) |
splice site |
probably null |
|
|
aggressivity
|
UTSW |
1 |
136,882,344 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0356:Nr5a2
|
UTSW |
1 |
136,845,692 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0653:Nr5a2
|
UTSW |
1 |
136,948,805 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1111:Nr5a2
|
UTSW |
1 |
136,882,421 (GRCm38) |
splice site |
probably null |
|
|
R1728:Nr5a2
|
UTSW |
1 |
136,952,125 (GRCm38) |
missense |
probably benign |
|
|
R1729:Nr5a2
|
UTSW |
1 |
136,952,125 (GRCm38) |
missense |
probably benign |
|
|
R1730:Nr5a2
|
UTSW |
1 |
136,952,125 (GRCm38) |
missense |
probably benign |
|
|
R1739:Nr5a2
|
UTSW |
1 |
136,952,125 (GRCm38) |
missense |
probably benign |
|
|
R1762:Nr5a2
|
UTSW |
1 |
136,952,125 (GRCm38) |
missense |
probably benign |
|
|
R1783:Nr5a2
|
UTSW |
1 |
136,952,125 (GRCm38) |
missense |
probably benign |
|
|
R1784:Nr5a2
|
UTSW |
1 |
136,952,125 (GRCm38) |
missense |
probably benign |
|
|
R1785:Nr5a2
|
UTSW |
1 |
136,952,125 (GRCm38) |
missense |
probably benign |
|
|
R1927:Nr5a2
|
UTSW |
1 |
136,944,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2360:Nr5a2
|
UTSW |
1 |
136,948,827 (GRCm38) |
missense |
probably benign |
|
|
R3408:Nr5a2
|
UTSW |
1 |
136,940,498 (GRCm38) |
missense |
probably benign |
|
|
R4662:Nr5a2
|
UTSW |
1 |
136,940,429 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4861:Nr5a2
|
UTSW |
1 |
136,948,720 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4861:Nr5a2
|
UTSW |
1 |
136,948,720 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5999:Nr5a2
|
UTSW |
1 |
136,845,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6191:Nr5a2
|
UTSW |
1 |
136,890,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6457:Nr5a2
|
UTSW |
1 |
136,960,238 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6747:Nr5a2
|
UTSW |
1 |
136,882,344 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8170:Nr5a2
|
UTSW |
1 |
136,940,647 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9013:Nr5a2
|
UTSW |
1 |
136,945,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9556:Nr5a2
|
UTSW |
1 |
136,890,722 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
X0012:Nr5a2
|
UTSW |
1 |
136,943,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0065:Nr5a2
|
UTSW |
1 |
136,940,777 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCGTCTAAAGAGGAGGCC -3'
(R):5'- CTCAGCTTAGGGACAGCTTTG -3'
Sequencing Primer
(F):5'- ACCACAACTGCCAGCTGGG -3'
(R):5'- TTTGAAGCTGCCGGACC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation