Incidental Mutation 'IGL02614:Nr1i2'
| ID |
300590 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38068711-38115211 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38074118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 165
(H165L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023504]
|
| AlphaFold |
O54915 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023504
AA Change: H165L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023504
Gene: ENSMUSG00000022809
AA Change: H165L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
35 |
107 |
6.32e-33 |
SMART |
|
HOLI
|
242 |
401 |
4.61e-35 |
SMART |
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
| Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,551,661 (GRCm39) |
M187K |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
| Cmbl |
G |
T |
15: 31,589,830 (GRCm39) |
V187F |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
| Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
| Galnt16 |
T |
C |
12: 80,623,337 (GRCm39) |
S166P |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
| Gpr87 |
C |
A |
3: 59,086,738 (GRCm39) |
V256L |
probably damaging |
Het |
| Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,103,392 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,827 (GRCm39) |
N79Y |
probably benign |
Het |
| Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
| Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
| Rpn1 |
T |
A |
6: 88,079,087 (GRCm39) |
I510N |
probably benign |
Het |
| Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
| Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
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 |
|
R0142:Nr1i2
|
UTSW |
16 |
38,073,368 (GRCm39) |
missense |
probably benign |
|
|
R1402:Nr1i2
|
UTSW |
16 |
38,073,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation