Incidental Mutation 'R4486:Arnt2'
ID |
331615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arnt2
|
Ensembl Gene |
ENSMUSG00000015709 |
Gene Name |
aryl hydrocarbon receptor nuclear translocator 2 |
Synonyms |
bHLHe1 |
MMRRC Submission |
041742-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4486 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
83895486-84059201 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83924553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 425
(T425S)
|
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: T436S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000082154 Gene: ENSMUSG00000015709 AA Change: T436S
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 benign
Transcript: ENSMUST00000208232
AA Change: T425S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208936
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209133
AA Change: T425S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.0768 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
94% (45/48) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,230,227 (GRCm39) |
|
probably benign |
Het |
Adamts18 |
G |
T |
8: 114,439,825 (GRCm39) |
P923T |
probably benign |
Het |
Ank3 |
C |
T |
10: 69,837,804 (GRCm39) |
T1604I |
possibly damaging |
Het |
Armc10 |
A |
G |
5: 21,858,432 (GRCm39) |
Q159R |
probably damaging |
Het |
B4galt3 |
A |
G |
1: 171,099,343 (GRCm39) |
T36A |
possibly damaging |
Het |
Bbx |
A |
G |
16: 50,020,777 (GRCm39) |
V799A |
probably damaging |
Het |
Bud23 |
T |
C |
5: 135,092,779 (GRCm39) |
|
probably null |
Het |
Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
Crispld1 |
A |
G |
1: 17,823,102 (GRCm39) |
T390A |
probably benign |
Het |
Cyp4f39 |
T |
A |
17: 32,702,428 (GRCm39) |
D308E |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,015,729 (GRCm39) |
V3584A |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,820,086 (GRCm39) |
|
probably benign |
Het |
Frk |
T |
C |
10: 34,484,377 (GRCm39) |
I450T |
probably benign |
Het |
Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
Hyi |
G |
A |
4: 118,219,674 (GRCm39) |
G237D |
probably damaging |
Het |
Jrkl |
T |
C |
9: 13,245,376 (GRCm39) |
N95S |
probably benign |
Het |
Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
Nanog |
T |
C |
6: 122,689,676 (GRCm39) |
|
probably null |
Het |
Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
Or6c76b |
T |
C |
10: 129,692,567 (GRCm39) |
F60S |
probably damaging |
Het |
Pcdha3 |
T |
C |
18: 37,080,404 (GRCm39) |
V382A |
probably damaging |
Het |
Pla2g4c |
T |
A |
7: 13,071,676 (GRCm39) |
N165K |
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,424,800 (GRCm39) |
I362T |
probably benign |
Het |
Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
Rpusd2 |
T |
C |
2: 118,865,705 (GRCm39) |
V134A |
probably damaging |
Het |
Serpina1c |
T |
A |
12: 103,863,259 (GRCm39) |
|
probably null |
Het |
Slc6a19 |
A |
T |
13: 73,829,836 (GRCm39) |
I606N |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
Tas2r143 |
A |
G |
6: 42,377,628 (GRCm39) |
M153V |
probably benign |
Het |
Thrb |
G |
T |
14: 17,925,640 (GRCm38) |
M1I |
probably null |
Het |
Trbc2 |
A |
G |
6: 41,523,814 (GRCm39) |
|
probably benign |
Het |
Trim37 |
T |
A |
11: 87,087,651 (GRCm39) |
S587R |
probably benign |
Het |
Ulbp1 |
T |
A |
10: 7,397,397 (GRCm39) |
H151L |
probably benign |
Het |
Vmn2r54 |
A |
T |
7: 12,366,199 (GRCm39) |
L245* |
probably null |
Het |
Vmn2r78 |
A |
C |
7: 86,569,959 (GRCm39) |
|
probably null |
Het |
Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
Het |
Xrcc4 |
A |
C |
13: 90,140,707 (GRCm39) |
S167R |
possibly damaging |
Het |
Zfp994 |
C |
T |
17: 22,420,541 (GRCm39) |
C136Y |
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 |
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'- ATGGAAGGGATGCACACCAC -3'
(R):5'- GTATGAGCCTAGCTGCTACC -3'
Sequencing Primer
(F):5'- CAGTAAAGGAAACCCAGAGTCTC -3'
(R):5'- AGCAGCACCCCATTCTGTG -3'
|
Posted On |
2015-07-21 |