Incidental Mutation 'R3107:Arnt2'
| ID |
263619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt2
|
| Ensembl Gene |
ENSMUSG00000015709 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator 2 |
| Synonyms |
bHLHe1 |
| MMRRC Submission |
040581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
83895486-84059201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83911652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 607
(S607P)
|
| 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: S618P
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: S618P
| 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 |
possibly damaging
Transcript: ENSMUST00000208232
AA Change: S607P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208564
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209133
AA Change: S607P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
| Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
| Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
| Ddt |
C |
T |
10: 75,608,597 (GRCm39) |
E42K |
probably benign |
Het |
| Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam114a2 |
C |
A |
11: 57,390,561 (GRCm39) |
K317N |
probably benign |
Het |
| Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
| Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,998,041 (GRCm39) |
T23A |
possibly damaging |
Het |
| Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
| Mov10 |
T |
C |
3: 104,707,040 (GRCm39) |
E653G |
probably damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
| Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,687,906 (GRCm39) |
Q11K |
probably benign |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
| Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGAGGCCCTTCTGATTATC -3'
(R):5'- ACTTGCTGTTCCTGAAGTGAC -3'
Sequencing Primer
(F):5'- CCTTCTGATTATCGCCAGATAGGAG -3'
(R):5'- CTGTTCCTGAAGTGACCTCAAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation