Incidental Mutation 'IGL02863:Arnt2'
| ID |
362217 |
| 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 # |
IGL02863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
83895486-84059201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83917145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 483
(R483H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085077]
[ENSMUST00000208232]
[ENSMUST00000209133]
|
| AlphaFold |
Q61324 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085077
AA Change: R494H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: R494H
| 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: ENSMUST00000207459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208129
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208232
AA Change: R483H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208564
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209133
AA Change: R483H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,115,026 (GRCm39) |
H640L |
probably damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,287,112 (GRCm39) |
Y110* |
probably null |
Het |
| Alk |
T |
A |
17: 72,204,830 (GRCm39) |
E1114V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,287,661 (GRCm39) |
D213E |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,688,564 (GRCm39) |
N164S |
probably benign |
Het |
| Arhgef9 |
G |
A |
X: 94,121,110 (GRCm39) |
R266C |
probably damaging |
Het |
| Armh3 |
T |
A |
19: 45,946,850 (GRCm39) |
N256Y |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,541 (GRCm39) |
N1517I |
probably benign |
Het |
| Baiap3 |
C |
T |
17: 25,463,476 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
A |
7: 28,582,581 (GRCm39) |
V152E |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,051,491 (GRCm39) |
T324A |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,592,457 (GRCm39) |
T47A |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,415,677 (GRCm39) |
S2669G |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,017,250 (GRCm39) |
R1520H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,988,671 (GRCm39) |
C3214R |
probably damaging |
Het |
| Elapor2 |
C |
A |
5: 9,511,399 (GRCm39) |
C920* |
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,145,176 (GRCm39) |
C2688S |
possibly damaging |
Het |
| Fgf13 |
A |
G |
X: 58,109,029 (GRCm39) |
V201A |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,357,584 (GRCm39) |
L228* |
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,760,006 (GRCm39) |
C39R |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,534 (GRCm39) |
T274A |
possibly damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,167 (GRCm39) |
L238M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,654,280 (GRCm39) |
E366D |
probably benign |
Het |
| Mgat4e |
C |
T |
1: 134,468,896 (GRCm39) |
E383K |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,224,446 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,223,367 (GRCm39) |
L229Q |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,368,953 (GRCm39) |
L571Q |
probably damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,347,513 (GRCm39) |
M354L |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,696,340 (GRCm39) |
F286S |
probably damaging |
Het |
| Ocstamp |
A |
G |
2: 165,239,428 (GRCm39) |
F253L |
probably damaging |
Het |
| Or10ak9 |
T |
G |
4: 118,726,083 (GRCm39) |
I34S |
possibly damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,457 (GRCm39) |
S188P |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,120,286 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,886,243 (GRCm39) |
L1774P |
unknown |
Het |
| Paxip1 |
T |
C |
5: 27,964,393 (GRCm39) |
S729G |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,304,027 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
G |
A |
17: 24,788,726 (GRCm39) |
G828D |
possibly damaging |
Het |
| Ppp4r3c2 |
C |
T |
X: 88,796,429 (GRCm39) |
P87L |
possibly damaging |
Het |
| Raver1 |
A |
G |
9: 20,987,267 (GRCm39) |
L670P |
probably damaging |
Het |
| Rhd |
A |
G |
4: 134,612,621 (GRCm39) |
I291V |
probably damaging |
Het |
| Rorb |
C |
T |
19: 18,929,617 (GRCm39) |
E377K |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,527,646 (GRCm39) |
I314T |
probably benign |
Het |
| Synj1 |
T |
C |
16: 90,758,322 (GRCm39) |
T841A |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,522,913 (GRCm39) |
L1448H |
probably damaging |
Het |
| Tmc3 |
G |
T |
7: 83,271,494 (GRCm39) |
S882I |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,271,493 (GRCm39) |
S882C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,582,917 (GRCm39) |
N271D |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,973,096 (GRCm39) |
I759V |
possibly damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r115 |
G |
T |
17: 23,578,257 (GRCm39) |
V577F |
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 |
|
IGL03207:Arnt2
|
APN |
7 |
83,993,042 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2015-12-18 |
Incidental Mutation