Incidental Mutation 'IGL03207:Arnt2'
| ID |
413183 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arnt2
|
| Ensembl Gene |
ENSMUSG00000015709 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator 2 |
| Synonyms |
bHLHe1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03207
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
83895486-84059201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83993042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 166
(E166G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085077]
[ENSMUST00000207769]
[ENSMUST00000208204]
[ENSMUST00000208232]
[ENSMUST00000208392]
[ENSMUST00000208863]
[ENSMUST00000209133]
[ENSMUST00000208995]
|
| AlphaFold |
Q61324 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085077
AA Change: E177G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: E177G
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
69 |
122 |
1.42e-14 |
SMART |
|
PAS
|
137 |
204 |
1.28e-8 |
SMART |
|
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
|
PAS
|
325 |
391 |
4.15e-8 |
SMART |
|
PAC
|
398 |
441 |
7.93e-5 |
SMART |
|
low complexity region
|
502 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
675 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207512
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207769
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208204
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208232
AA Change: E166G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208392
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208863
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209133
AA Change: E166G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208995
AA Change: E166G
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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 encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate this gene die shortly after birth, displaying impaired development of secretory neurons in the hypothalamus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
G |
8: 125,286,107 (GRCm39) |
F325S |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,004,145 (GRCm39) |
I1619T |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,307 (GRCm39) |
D733G |
probably damaging |
Het |
| Capn2 |
T |
G |
1: 182,316,578 (GRCm39) |
T294P |
possibly damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,996 (GRCm39) |
|
probably benign |
Het |
| Eno4 |
T |
C |
19: 58,941,637 (GRCm39) |
L185P |
probably benign |
Het |
| Exoc5 |
G |
A |
14: 49,270,832 (GRCm39) |
P398S |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,208,918 (GRCm39) |
M187V |
probably benign |
Het |
| Lrfn5 |
C |
T |
12: 61,890,112 (GRCm39) |
T467M |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
| Nuak1 |
A |
C |
10: 84,275,993 (GRCm39) |
F77V |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,206,092 (GRCm39) |
|
probably benign |
Het |
| Or5ar1 |
A |
G |
2: 85,671,317 (GRCm39) |
W273R |
probably benign |
Het |
| Ppp3cc |
T |
A |
14: 70,485,031 (GRCm39) |
I208F |
probably damaging |
Het |
| Prrc1 |
G |
A |
18: 57,522,389 (GRCm39) |
R407Q |
probably benign |
Het |
| Ror1 |
G |
A |
4: 100,265,142 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
T |
A |
13: 84,442,714 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
C |
A |
12: 9,039,936 (GRCm39) |
A347E |
probably damaging |
Het |
|
| Other mutations in Arnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Arnt2
|
APN |
7 |
83,935,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01525:Arnt2
|
APN |
7 |
83,924,616 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02331:Arnt2
|
APN |
7 |
83,914,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Arnt2
|
APN |
7 |
83,900,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Arnt2
|
APN |
7 |
83,917,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Arnold2
|
UTSW |
7 |
83,996,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
porker
|
UTSW |
7 |
83,993,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Arnt2
|
UTSW |
7 |
83,933,334 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0058:Arnt2
|
UTSW |
7 |
83,996,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Arnt2
|
UTSW |
7 |
83,996,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Arnt2
|
UTSW |
7 |
83,996,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Arnt2
|
UTSW |
7 |
83,996,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Arnt2
|
UTSW |
7 |
83,996,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Arnt2
|
UTSW |
7 |
84,010,867 (GRCm39) |
nonsense |
probably null |
|
|
R0514:Arnt2
|
UTSW |
7 |
83,954,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0863:Arnt2
|
UTSW |
7 |
83,914,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Arnt2
|
UTSW |
7 |
83,924,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Arnt2
|
UTSW |
7 |
83,992,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1964:Arnt2
|
UTSW |
7 |
83,992,997 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2061:Arnt2
|
UTSW |
7 |
83,993,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2216:Arnt2
|
UTSW |
7 |
83,924,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3107:Arnt2
|
UTSW |
7 |
83,911,652 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3410:Arnt2
|
UTSW |
7 |
83,924,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Arnt2
|
UTSW |
7 |
83,993,009 (GRCm39) |
missense |
probably null |
1.00 |
|
R4258:Arnt2
|
UTSW |
7 |
83,960,163 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4486:Arnt2
|
UTSW |
7 |
83,924,553 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4489:Arnt2
|
UTSW |
7 |
83,924,553 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4668:Arnt2
|
UTSW |
7 |
83,924,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Arnt2
|
UTSW |
7 |
83,912,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5876:Arnt2
|
UTSW |
7 |
83,996,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5923:Arnt2
|
UTSW |
7 |
83,911,741 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5926:Arnt2
|
UTSW |
7 |
83,993,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6122:Arnt2
|
UTSW |
7 |
84,010,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Arnt2
|
UTSW |
7 |
83,993,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Arnt2
|
UTSW |
7 |
83,954,406 (GRCm39) |
missense |
probably benign |
|
|
R7898:Arnt2
|
UTSW |
7 |
83,918,155 (GRCm39) |
splice site |
probably null |
|
|
R8386:Arnt2
|
UTSW |
7 |
83,996,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Arnt2
|
UTSW |
7 |
83,954,059 (GRCm39) |
missense |
probably benign |
|
|
R9258:Arnt2
|
UTSW |
7 |
84,010,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Arnt2
|
UTSW |
7 |
83,931,321 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9452:Arnt2
|
UTSW |
7 |
83,933,334 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9636:Arnt2
|
UTSW |
7 |
83,993,042 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9780:Arnt2
|
UTSW |
7 |
83,954,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0066:Arnt2
|
UTSW |
7 |
83,934,992 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Arnt2
|
UTSW |
7 |
83,912,404 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1177:Arnt2
|
UTSW |
7 |
83,912,415 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2016-08-02 |
Incidental Mutation