Incidental Mutation 'R1402:Nr1i2'
ID |
500221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nr1i2
|
Ensembl Gene |
ENSMUSG00000022809 |
Gene Name |
nuclear receptor subfamily 1, group I, member 2 |
Synonyms |
PXR, Pregnane X receptor, SXR, PXR.1, PXR.2, mPXR |
MMRRC Submission |
039464-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1402 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
38068711-38115211 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38073245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 244
(S244P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023504]
|
AlphaFold |
O54915 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023504
AA Change: S244P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023504 Gene: ENSMUSG00000022809 AA Change: S244P
Domain | Start | End | E-Value | Type |
ZnF_C4
|
35 |
107 |
6.32e-33 |
SMART |
HOLI
|
242 |
401 |
4.61e-35 |
SMART |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 96.3%
- 10x: 80.0%
- 20x: 46.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit specific loss of xenoregulation of CYP3A11. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp8 |
T |
A |
7: 123,065,862 (GRCm39) |
V219E |
probably damaging |
Het |
Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,226,676 (GRCm39) |
S409G |
probably benign |
Het |
Ehmt2 |
C |
T |
17: 35,125,757 (GRCm39) |
T607I |
probably benign |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
H2-T22 |
A |
T |
17: 36,351,161 (GRCm39) |
I307N |
possibly damaging |
Het |
Itih3 |
T |
C |
14: 30,630,665 (GRCm39) |
D882G |
probably damaging |
Het |
Kmt5c |
G |
T |
7: 4,745,252 (GRCm39) |
R81L |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Pcx |
A |
G |
19: 4,652,058 (GRCm39) |
D101G |
possibly damaging |
Het |
Prkch |
T |
C |
12: 73,632,163 (GRCm39) |
V76A |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,279,533 (GRCm39) |
Y655C |
probably damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,384 (GRCm39) |
K691E |
possibly damaging |
Het |
Tmprss11e |
G |
A |
5: 86,863,477 (GRCm39) |
T196I |
probably damaging |
Het |
Trappc13 |
A |
G |
13: 104,286,624 (GRCm39) |
V211A |
probably damaging |
Het |
Vav1 |
C |
A |
17: 57,610,849 (GRCm39) |
L472I |
probably benign |
Het |
Wdr25 |
G |
A |
12: 108,992,465 (GRCm39) |
E459K |
probably damaging |
Het |
Zdbf2 |
A |
T |
1: 63,342,786 (GRCm39) |
E388D |
possibly damaging |
Het |
Zfp663 |
T |
C |
2: 165,195,890 (GRCm39) |
K110E |
probably benign |
Het |
Zfp78 |
C |
A |
7: 6,381,618 (GRCm39) |
H223N |
probably damaging |
Het |
|
Other mutations in Nr1i2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01739:Nr1i2
|
APN |
16 |
38,086,333 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02451:Nr1i2
|
APN |
16 |
38,069,654 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02614:Nr1i2
|
APN |
16 |
38,074,118 (GRCm39) |
missense |
probably damaging |
0.97 |
R0142:Nr1i2
|
UTSW |
16 |
38,073,368 (GRCm39) |
missense |
probably benign |
|
R1402:Nr1i2
|
UTSW |
16 |
38,073,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R1836:Nr1i2
|
UTSW |
16 |
38,069,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R2035:Nr1i2
|
UTSW |
16 |
38,071,488 (GRCm39) |
critical splice donor site |
probably null |
|
R3623:Nr1i2
|
UTSW |
16 |
38,086,269 (GRCm39) |
splice site |
probably benign |
|
R3834:Nr1i2
|
UTSW |
16 |
38,074,291 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6236:Nr1i2
|
UTSW |
16 |
38,086,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Nr1i2
|
UTSW |
16 |
38,086,442 (GRCm39) |
missense |
probably benign |
0.34 |
R7837:Nr1i2
|
UTSW |
16 |
38,074,146 (GRCm39) |
missense |
probably benign |
0.00 |
R8152:Nr1i2
|
UTSW |
16 |
38,073,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R8939:Nr1i2
|
UTSW |
16 |
38,086,382 (GRCm39) |
missense |
probably benign |
0.00 |
R9668:Nr1i2
|
UTSW |
16 |
38,071,573 (GRCm39) |
missense |
possibly damaging |
0.73 |
Z1177:Nr1i2
|
UTSW |
16 |
38,074,277 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATCCTCCAGTAGCAATGGTCCC -3'
(R):5'- TTCCACAGTGGCTGTGAGCTTC -3'
Sequencing Primer
(F):5'- TAGCAATGGTCCCCCAGG -3'
(R):5'- TGAGCTTCCAGAGTTTCTGC -3'
|
Posted On |
2017-12-01 |