Incidental Mutation 'R0023:Nr1i3'
| ID |
178038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr1i3
|
| Ensembl Gene |
ENSMUSG00000005677 |
| Gene Name |
nuclear receptor subfamily 1, group I, member 3 |
| Synonyms |
mCAR, ESTM32, CAR, CAR1, MB67, Care2 |
| MMRRC Submission |
038318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0023 (G1)
|
| Quality Score |
77 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171041503-171046414 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171044900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 247
(F247L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005817]
[ENSMUST00000005820]
[ENSMUST00000075469]
[ENSMUST00000111326]
[ENSMUST00000111327]
[ENSMUST00000111328]
[ENSMUST00000155126]
[ENSMUST00000147246]
[ENSMUST00000133075]
[ENSMUST00000143405]
[ENSMUST00000138184]
|
| AlphaFold |
O35627 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005817
|
| SMART Domains |
Protein: ENSMUSP00000005817
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
302 |
7.2e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005820
AA Change: F248L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677
AA Change: F248L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
89 |
6.98e-35 |
SMART |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
HOLI
|
173 |
333 |
5.55e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075469
AA Change: F248L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677
AA Change: F248L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
89 |
6.98e-35 |
SMART |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
HOLI
|
173 |
285 |
8.9e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111326
|
| SMART Domains |
Protein: ENSMUSP00000106958
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
95 |
9e-16 |
PFAM |
|
Pfam:Porin_3
|
85 |
268 |
1.4e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111327
|
| SMART Domains |
Protein: ENSMUSP00000106959
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
302 |
3.4e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111328
AA Change: F247L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677
AA Change: F247L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
89 |
6.98e-35 |
SMART |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
HOLI
|
173 |
332 |
5.55e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130529
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155126
AA Change: F111L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137683
Gene: ENSMUSG00000005677
AA Change: F111L
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
36 |
196 |
5.55e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147246
|
| SMART Domains |
Protein: ENSMUSP00000119006
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
91 |
5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133075
|
| SMART Domains |
Protein: ENSMUSP00000137852
Gene: ENSMUSG00000005677
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
58 |
1.68e-3 |
SMART |
|
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143405
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138184
|
| SMART Domains |
Protein: ENSMUSP00000115877
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
119 |
1.5e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.4927 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.2%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to TCPOBOP. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
| Abcg4 |
A |
G |
9: 44,186,672 (GRCm39) |
Y491H |
probably damaging |
Het |
| Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
| Ang4 |
G |
T |
14: 52,001,860 (GRCm39) |
Y29* |
probably null |
Het |
| Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
| Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
| Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
| Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
| Bpifa3 |
A |
C |
2: 153,980,070 (GRCm39) |
H234P |
probably damaging |
Het |
| Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
| Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,185 (GRCm39) |
D413G |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
| Crip3 |
A |
G |
17: 46,741,920 (GRCm39) |
K136E |
probably damaging |
Het |
| Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,525,726 (GRCm39) |
S367P |
probably damaging |
Het |
| Dhrs11 |
A |
T |
11: 84,713,976 (GRCm39) |
L125H |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,758,834 (GRCm39) |
|
probably benign |
Het |
| Eif2ak4 |
A |
C |
2: 118,293,202 (GRCm39) |
S1253R |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
| Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,547,079 (GRCm39) |
T449A |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,374,563 (GRCm39) |
S2358P |
possibly damaging |
Het |
| Gas6 |
A |
C |
8: 13,520,344 (GRCm39) |
L448R |
probably damaging |
Het |
| Hikeshi |
T |
C |
7: 89,569,412 (GRCm39) |
|
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,485,197 (GRCm39) |
R399* |
probably null |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Knl1 |
C |
T |
2: 118,933,030 (GRCm39) |
T2063I |
possibly damaging |
Het |
| Lyzl6 |
A |
G |
11: 103,527,697 (GRCm39) |
V9A |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,786,412 (GRCm39) |
R693W |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
| Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
| Rpl21-ps6 |
T |
C |
17: 56,222,536 (GRCm39) |
|
noncoding transcript |
Het |
| Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
T |
A |
2: 126,755,213 (GRCm39) |
|
probably null |
Het |
| Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
| Tnn |
T |
A |
1: 159,932,498 (GRCm39) |
T1075S |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,209,912 (GRCm39) |
C169* |
probably null |
Het |
| Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
| Ulk3 |
C |
A |
9: 57,497,639 (GRCm39) |
C4* |
probably null |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,997 (GRCm39) |
T272S |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,565,252 (GRCm39) |
E380K |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,787 (GRCm39) |
N304I |
probably damaging |
Het |
| Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
| Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
| Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
probably null |
Het |
|
| Other mutations in Nr1i3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01582:Nr1i3
|
APN |
1 |
171,042,541 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02401:Nr1i3
|
APN |
1 |
171,043,942 (GRCm39) |
splice site |
probably benign |
|
|
IGL02964:Nr1i3
|
APN |
1 |
171,041,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
election
|
UTSW |
1 |
171,043,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Nr1i3
|
UTSW |
1 |
171,041,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Nr1i3
|
UTSW |
1 |
171,041,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Nr1i3
|
UTSW |
1 |
171,044,805 (GRCm39) |
splice site |
probably benign |
|
|
R1437:Nr1i3
|
UTSW |
1 |
171,044,710 (GRCm39) |
frame shift |
probably null |
|
|
R1754:Nr1i3
|
UTSW |
1 |
171,044,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Nr1i3
|
UTSW |
1 |
171,044,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2116:Nr1i3
|
UTSW |
1 |
171,046,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3613:Nr1i3
|
UTSW |
1 |
171,042,564 (GRCm39) |
nonsense |
probably null |
|
|
R3787:Nr1i3
|
UTSW |
1 |
171,041,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Nr1i3
|
UTSW |
1 |
171,044,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4772:Nr1i3
|
UTSW |
1 |
171,044,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Nr1i3
|
UTSW |
1 |
171,046,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4880:Nr1i3
|
UTSW |
1 |
171,043,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5072:Nr1i3
|
UTSW |
1 |
171,044,382 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5349:Nr1i3
|
UTSW |
1 |
171,042,641 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5527:Nr1i3
|
UTSW |
1 |
171,041,921 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6768:Nr1i3
|
UTSW |
1 |
171,044,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6824:Nr1i3
|
UTSW |
1 |
171,042,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7011:Nr1i3
|
UTSW |
1 |
171,041,927 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7092:Nr1i3
|
UTSW |
1 |
171,041,747 (GRCm39) |
splice site |
probably null |
|
|
R7740:Nr1i3
|
UTSW |
1 |
171,044,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8200:Nr1i3
|
UTSW |
1 |
171,045,266 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9013:Nr1i3
|
UTSW |
1 |
171,042,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Nr1i3
|
UTSW |
1 |
171,043,955 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9801:Nr1i3
|
UTSW |
1 |
171,045,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Nr1i3
|
UTSW |
1 |
171,041,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTCTTACATTTGCAGTGTGCC -3'
(R):5'- TGTTCAGAATCAGCGCCATCTCC -3'
Sequencing Primer
(F):5'- GACCTAAGTCTAAAGTGCCCTTG -3'
(R):5'- GGATGGTATAGATAGACCCTTGC -3'
|
| Posted On |
2014-05-07 |
Incidental Mutation