Incidental Mutation 'R5923:Arnt2'
| ID |
461676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt2
|
| Ensembl Gene |
ENSMUSG00000015709 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator 2 |
| Synonyms |
bHLHe1 |
| MMRRC Submission |
043241-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5923 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
83895486-84059201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83911741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 577
(T577K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085077]
[ENSMUST00000208232]
[ENSMUST00000209133]
|
| AlphaFold |
Q61324 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085077
AA Change: T588K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: T588K
| 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 |
probably benign
Transcript: ENSMUST00000208232
AA Change: T577K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208564
AA Change: D107E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209133
AA Change: T577K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.6%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
T |
G |
10: 120,614,675 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,051,378 (GRCm39) |
V106A |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,974,762 (GRCm39) |
T2184I |
probably damaging |
Het |
| Brpf3 |
G |
A |
17: 29,025,610 (GRCm39) |
V228I |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,833,105 (GRCm39) |
N890S |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,004,560 (GRCm39) |
M120K |
possibly damaging |
Het |
| Cdr2 |
A |
G |
7: 120,581,224 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,525 (GRCm39) |
F491S |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,490,889 (GRCm39) |
S185T |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,220,840 (GRCm39) |
S2215P |
probably benign |
Het |
| Echdc3 |
A |
G |
2: 6,194,383 (GRCm39) |
V224A |
possibly damaging |
Het |
| Hivep3 |
G |
T |
4: 119,953,490 (GRCm39) |
S602I |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 115,021,055 (GRCm39) |
S99G |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,429,495 (GRCm39) |
T1617A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,569,661 (GRCm39) |
E1020G |
unknown |
Het |
| Nbeal1 |
T |
C |
1: 60,287,554 (GRCm39) |
F933L |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 78,101,676 (GRCm39) |
I419N |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,194,102 (GRCm39) |
I136V |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,154 (GRCm39) |
D179E |
probably benign |
Het |
| Plcb4 |
A |
T |
2: 135,803,734 (GRCm39) |
K536* |
probably null |
Het |
| Polk |
A |
T |
13: 96,631,923 (GRCm39) |
I270N |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,346 (GRCm39) |
M106L |
probably benign |
Het |
| Scap |
G |
T |
9: 110,212,648 (GRCm39) |
D1027Y |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,923,959 (GRCm39) |
H787Q |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,781,507 (GRCm39) |
D215G |
probably damaging |
Het |
| Tbcd |
G |
A |
11: 121,470,978 (GRCm39) |
C665Y |
probably benign |
Het |
| Tmc8 |
C |
T |
11: 117,674,638 (GRCm39) |
R118C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,642,901 (GRCm39) |
H13245L |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,727 (GRCm39) |
S1631P |
probably damaging |
Het |
| Vmn1r12 |
G |
A |
6: 57,136,020 (GRCm39) |
G39D |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,751 (GRCm39) |
S693G |
probably damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,657,413 (GRCm39) |
R593S |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,523 (GRCm39) |
L200P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTATATTTTGGAAGCCTTG -3'
(R):5'- ACAGGATTCTGCCCAACCTC -3'
Sequencing Primer
(F):5'- TGGACACACGATGCTCAAG -3'
(R):5'- GGATTCTGCCCAACCTCCCTAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation