Incidental Mutation 'R4258:Arnt2'
ID |
321903 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arnt2
|
Ensembl Gene |
ENSMUSG00000015709 |
Gene Name |
aryl hydrocarbon receptor nuclear translocator 2 |
Synonyms |
bHLHe1 |
MMRRC Submission |
041071-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4258 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
83895486-84059201 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83960163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 204
(T204A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085077]
[ENSMUST00000208204]
[ENSMUST00000208232]
[ENSMUST00000208995]
[ENSMUST00000209133]
|
AlphaFold |
Q61324 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085077
AA Change: T215A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000082154 Gene: ENSMUSG00000015709 AA Change: T215A
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: ENSMUST00000207759
|
Predicted Effect |
unknown
Transcript: ENSMUST00000208129
AA Change: T8A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208204
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208232
AA Change: T204A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208995
AA Change: T204A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209133
AA Change: T204A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
Meta Mutation Damage Score |
0.6514 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (60/63) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932415M13Rik |
T |
A |
17: 54,031,441 (GRCm39) |
|
noncoding transcript |
Het |
Ank3 |
T |
C |
10: 69,840,592 (GRCm39) |
I984T |
probably benign |
Het |
Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
Aspg |
A |
T |
12: 112,087,687 (GRCm39) |
N346I |
probably benign |
Het |
Brdt |
A |
G |
5: 107,507,775 (GRCm39) |
S668G |
probably damaging |
Het |
Ccdc178 |
C |
T |
18: 22,150,392 (GRCm39) |
|
probably null |
Het |
Cfap58 |
A |
T |
19: 47,937,923 (GRCm39) |
|
probably null |
Het |
Chaf1a |
C |
A |
17: 56,363,474 (GRCm39) |
H319Q |
unknown |
Het |
Colec12 |
T |
C |
18: 9,720,950 (GRCm39) |
S13P |
probably damaging |
Het |
Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
Cyp2c65 |
A |
C |
19: 39,081,872 (GRCm39) |
D466A |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,248 (GRCm39) |
K266E |
probably damaging |
Het |
Dennd1b |
G |
T |
1: 138,990,678 (GRCm39) |
R214L |
probably damaging |
Het |
Dock9 |
T |
C |
14: 121,818,854 (GRCm39) |
I1533V |
probably benign |
Het |
Dynlt1a |
C |
T |
17: 6,361,184 (GRCm39) |
M102I |
probably benign |
Het |
Edil3 |
G |
T |
13: 89,325,272 (GRCm39) |
L220F |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,831,693 (GRCm39) |
Y383H |
probably benign |
Het |
Epc1 |
T |
A |
18: 6,450,130 (GRCm39) |
T393S |
probably benign |
Het |
Fbxo8 |
A |
T |
8: 57,041,076 (GRCm39) |
D164V |
probably benign |
Het |
Gbp4 |
T |
A |
5: 105,284,841 (GRCm39) |
N16I |
probably damaging |
Het |
Gdf6 |
G |
A |
4: 9,844,877 (GRCm39) |
V134I |
probably damaging |
Het |
Gm5475 |
A |
G |
15: 100,322,117 (GRCm39) |
|
probably benign |
Het |
Gm6430 |
T |
G |
1: 96,952,561 (GRCm39) |
|
noncoding transcript |
Het |
Ighv9-4 |
A |
T |
12: 114,263,765 (GRCm39) |
V56E |
probably damaging |
Het |
Il3ra |
A |
T |
14: 14,347,961 (GRCm38) |
N36Y |
probably damaging |
Het |
Kif7 |
G |
T |
7: 79,360,261 (GRCm39) |
C325* |
probably null |
Het |
Lipo2 |
A |
T |
19: 33,708,328 (GRCm39) |
F229I |
possibly damaging |
Het |
Lrba |
A |
G |
3: 86,352,656 (GRCm39) |
K1935E |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,297,017 (GRCm39) |
D2672E |
possibly damaging |
Het |
Mtf1 |
A |
G |
4: 124,732,576 (GRCm39) |
T545A |
probably benign |
Het |
Mup6 |
A |
T |
4: 60,004,812 (GRCm39) |
|
probably null |
Het |
Myo9b |
T |
C |
8: 71,808,409 (GRCm39) |
V1672A |
probably damaging |
Het |
Nudt16l2 |
T |
C |
9: 105,020,767 (GRCm39) |
I165V |
probably damaging |
Het |
Or10al6 |
C |
A |
17: 38,082,949 (GRCm39) |
P135Q |
probably damaging |
Het |
Or10j5 |
C |
T |
1: 172,785,205 (GRCm39) |
T281I |
possibly damaging |
Het |
Or4k36 |
A |
T |
2: 111,145,983 (GRCm39) |
H53L |
probably benign |
Het |
Or5d37 |
T |
A |
2: 87,923,362 (GRCm39) |
N306I |
probably damaging |
Het |
Pcdhgb2 |
A |
T |
18: 37,825,102 (GRCm39) |
I698F |
probably damaging |
Het |
Pkn3 |
C |
T |
2: 29,978,572 (GRCm39) |
H665Y |
probably damaging |
Het |
Ppil6 |
T |
A |
10: 41,383,531 (GRCm39) |
L99* |
probably null |
Het |
Psg22 |
T |
A |
7: 18,458,554 (GRCm39) |
V376E |
probably damaging |
Het |
Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
Rasa2 |
A |
T |
9: 96,439,433 (GRCm39) |
|
probably benign |
Het |
Schip1 |
T |
A |
3: 68,525,963 (GRCm39) |
M379K |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,395,398 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
C |
T |
5: 35,864,322 (GRCm39) |
A622T |
probably benign |
Het |
Smarcd2 |
A |
T |
11: 106,156,076 (GRCm39) |
I292N |
probably damaging |
Het |
Ssxb17 |
C |
T |
X: 21,041,167 (GRCm39) |
S45N |
probably damaging |
Het |
Stab1 |
G |
A |
14: 30,876,629 (GRCm39) |
R862C |
possibly damaging |
Het |
Tdrd5 |
T |
A |
1: 156,087,312 (GRCm39) |
H870L |
probably benign |
Het |
Tnfaip8 |
A |
G |
18: 50,223,443 (GRCm39) |
R60G |
possibly damaging |
Het |
Traf3ip3 |
C |
T |
1: 192,880,254 (GRCm39) |
R25Q |
probably damaging |
Het |
Unc5b |
T |
C |
10: 60,601,150 (GRCm39) |
Y892C |
probably damaging |
Het |
Vmn2r2 |
T |
G |
3: 64,042,118 (GRCm39) |
D199A |
probably damaging |
Het |
Washc2 |
C |
A |
6: 116,185,202 (GRCm39) |
P12Q |
probably damaging |
Het |
Zfp286 |
T |
C |
11: 62,671,896 (GRCm39) |
I121V |
probably benign |
Het |
Zfp606 |
T |
A |
7: 12,228,267 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGCTGGATCAAGTACTGGG -3'
(R):5'- GCTGACAAGTAGAGATTGCACTGAG -3'
Sequencing Primer
(F):5'- GGTATACTTCTTGTCTGAAGAGCACC -3'
(R):5'- GTGAACCGTATGGATTCCATTTC -3'
|
Posted On |
2015-06-20 |