Incidental Mutation 'IGL02331:Arnt2'
| ID |
288657 |
| 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 # |
IGL02331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
83895486-84059201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83914832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 511
(Y511H)
|
| 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: Y522H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: Y522H
| 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: Y511H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208564
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209133
AA Change: Y511H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
G |
11: 105,862,170 (GRCm39) |
F241L |
possibly damaging |
Het |
| Alx1 |
A |
G |
10: 102,858,160 (GRCm39) |
F180L |
possibly damaging |
Het |
| Apaf1 |
T |
C |
10: 90,895,481 (GRCm39) |
D428G |
probably damaging |
Het |
| Arap2 |
G |
T |
5: 62,807,025 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
A |
T |
2: 172,714,724 (GRCm39) |
C362S |
probably damaging |
Het |
| Bpifb9a |
A |
G |
2: 154,104,307 (GRCm39) |
D250G |
possibly damaging |
Het |
| Ccnk |
T |
A |
12: 108,155,343 (GRCm39) |
L100H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,301,322 (GRCm39) |
I451V |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,613,192 (GRCm39) |
|
probably null |
Het |
| Cep78 |
T |
A |
19: 15,951,779 (GRCm39) |
Q342L |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,547,167 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,520,844 (GRCm39) |
R420G |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
| Dbnl |
T |
C |
11: 5,749,997 (GRCm39) |
*433R |
probably null |
Het |
| Elovl5 |
T |
C |
9: 77,887,181 (GRCm39) |
S191P |
possibly damaging |
Het |
| Fbxo42 |
A |
G |
4: 140,895,157 (GRCm39) |
E40G |
probably benign |
Het |
| Fpgt |
T |
C |
3: 154,793,499 (GRCm39) |
D176G |
possibly damaging |
Het |
| Gm1110 |
C |
A |
9: 26,824,583 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
T |
9: 42,453,284 (GRCm39) |
S700R |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,099,939 (GRCm39) |
S121P |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,517,402 (GRCm39) |
V263A |
probably benign |
Het |
| Hsd11b1 |
A |
C |
1: 192,922,924 (GRCm39) |
L81R |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,864,285 (GRCm39) |
M310T |
probably damaging |
Het |
| Isg20l2 |
G |
T |
3: 87,839,394 (GRCm39) |
V202L |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,986,415 (GRCm39) |
K111E |
probably damaging |
Het |
| Kxd1 |
T |
C |
8: 70,968,090 (GRCm39) |
T128A |
probably benign |
Het |
| Lgals7 |
A |
G |
7: 28,565,143 (GRCm39) |
T94A |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,641,816 (GRCm39) |
H1382R |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,726 (GRCm39) |
T1434A |
possibly damaging |
Het |
| Mybl2 |
C |
T |
2: 162,916,605 (GRCm39) |
R419W |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,771,111 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,702,389 (GRCm39) |
V2138A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 58,994,670 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
G |
9: 38,906,402 (GRCm39) |
S110P |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,263,532 (GRCm39) |
V105A |
probably benign |
Het |
| Pfkp |
A |
C |
13: 6,647,996 (GRCm39) |
F527V |
probably benign |
Het |
| Pilra |
C |
A |
5: 137,833,917 (GRCm39) |
G47* |
probably null |
Het |
| Pkdrej |
C |
A |
15: 85,705,528 (GRCm39) |
C136F |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,575,200 (GRCm39) |
M36K |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,999 (GRCm39) |
V124A |
probably benign |
Het |
| St7l |
A |
G |
3: 104,833,904 (GRCm39) |
T522A |
probably damaging |
Het |
| Stox2 |
G |
A |
8: 47,644,979 (GRCm39) |
P891L |
probably damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,972 (GRCm39) |
S115P |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
| Ttll6 |
T |
A |
11: 96,026,573 (GRCm39) |
M119K |
probably damaging |
Het |
| Ufl1 |
C |
A |
4: 25,251,971 (GRCm39) |
C568F |
probably damaging |
Het |
| Usp29 |
A |
T |
7: 6,965,155 (GRCm39) |
I333F |
probably benign |
Het |
| Vta1 |
G |
A |
10: 14,581,138 (GRCm39) |
T23M |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,773,325 (GRCm39) |
D1771G |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation