Incidental Mutation 'R0784:Ahr'
| ID |
76789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahr
|
| Ensembl Gene |
ENSMUSG00000019256 |
| Gene Name |
aryl-hydrocarbon receptor |
| Synonyms |
In, bHLHe76, dioxin receptor, Ah, Ahh, Ahre |
| MMRRC Submission |
038964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R0784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
35547978-35584988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35558141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 293
(G293D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110811]
[ENSMUST00000116436]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110811
|
| SMART Domains |
Protein: ENSMUSP00000106434
Gene: ENSMUSG00000019256
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
33 |
87 |
3.31e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116436
AA Change: G293D
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256
AA Change: G293D
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
33 |
87 |
5.09e-7 |
SMART |
|
PAS
|
111 |
177 |
2.72e-12 |
SMART |
|
low complexity region
|
212 |
222 |
N/A |
INTRINSIC |
|
PAS
|
266 |
336 |
1.77e-2 |
SMART |
|
PAC
|
342 |
383 |
2.39e-8 |
SMART |
|
low complexity region
|
606 |
640 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2402 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.1%
|
| Validation Efficiency |
97% (59/61) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for null or hypomorphic alleles do not respond to cyclic compounds (e.g., dioxin) and are resistant to their teratogenic effects. Depending on the allele, null mutants may also have liver defects, impaired female fertility, neonatal or postnatal lethality, and spleen abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(2) Targeted, other(6) Other(4) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,890,985 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,558,830 (GRCm39) |
R182W |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,295,125 (GRCm39) |
T1028K |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,235 (GRCm39) |
M81K |
possibly damaging |
Het |
| Asic2 |
T |
A |
11: 80,784,815 (GRCm39) |
M324L |
possibly damaging |
Het |
| Atf6 |
A |
G |
1: 170,537,516 (GRCm39) |
F635L |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,864,380 (GRCm39) |
V195E |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,414,861 (GRCm39) |
C525S |
probably damaging |
Het |
| Cbfa2t3 |
A |
G |
8: 123,377,226 (GRCm39) |
|
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,774,502 (GRCm39) |
T11M |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,735,110 (GRCm39) |
H754R |
possibly damaging |
Het |
| Clcn3 |
G |
T |
8: 61,382,237 (GRCm39) |
D450E |
probably benign |
Het |
| Cobl |
T |
G |
11: 12,216,843 (GRCm39) |
|
probably benign |
Het |
| Cyba |
T |
A |
8: 123,154,422 (GRCm39) |
T34S |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,911,426 (GRCm39) |
L187P |
probably damaging |
Het |
| Dennd4c |
A |
T |
4: 86,763,145 (GRCm39) |
Q1817L |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,867,764 (GRCm39) |
|
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,169,130 (GRCm39) |
S34P |
probably damaging |
Het |
| Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
| Galnt11 |
A |
G |
5: 25,463,907 (GRCm39) |
D393G |
probably damaging |
Het |
| Gm5435 |
T |
A |
12: 82,542,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
C |
T |
2: 118,203,533 (GRCm39) |
V46M |
possibly damaging |
Het |
| Gpr85 |
T |
A |
6: 13,836,748 (GRCm39) |
H52L |
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,328 (GRCm39) |
M246T |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,416 (GRCm39) |
F428L |
possibly damaging |
Het |
| Hoxa13 |
G |
C |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,087,118 (GRCm39) |
D350G |
probably benign |
Het |
| Kat2a |
C |
T |
11: 100,601,667 (GRCm39) |
M249I |
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,131,251 (GRCm39) |
Y782C |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,515,893 (GRCm39) |
F2650Y |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,348,709 (GRCm39) |
I754T |
probably benign |
Het |
| LTO1 |
A |
T |
7: 144,473,014 (GRCm39) |
Y108F |
probably benign |
Het |
| Mpl |
G |
A |
4: 118,303,603 (GRCm39) |
P472S |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,081 (GRCm39) |
I326T |
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,661,209 (GRCm39) |
|
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,803,828 (GRCm39) |
|
probably benign |
Het |
| Or2z2 |
T |
A |
11: 58,346,131 (GRCm39) |
I215F |
possibly damaging |
Het |
| Or4ac1-ps1 |
T |
A |
2: 88,370,511 (GRCm39) |
|
noncoding transcript |
Het |
| Pcsk5 |
T |
C |
19: 17,692,133 (GRCm39) |
M184V |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,216,306 (GRCm39) |
D1143V |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,263,771 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
C |
A |
4: 117,135,195 (GRCm39) |
|
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,571,274 (GRCm39) |
L131P |
probably damaging |
Het |
| Shc4 |
A |
C |
2: 125,499,416 (GRCm39) |
W354G |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,252,661 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
T |
C |
11: 72,290,763 (GRCm39) |
D394G |
probably damaging |
Het |
| Sry |
G |
T |
Y: 2,662,731 (GRCm39) |
Q310K |
unknown |
Het |
| St7l |
A |
G |
3: 104,778,240 (GRCm39) |
M126V |
probably benign |
Het |
| St8sia3 |
T |
C |
18: 64,404,772 (GRCm39) |
W350R |
probably damaging |
Het |
| Stk35 |
A |
T |
2: 129,652,722 (GRCm39) |
K408* |
probably null |
Het |
| Thsd7b |
T |
C |
1: 129,523,096 (GRCm39) |
|
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,870,026 (GRCm39) |
D349G |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,540 (GRCm39) |
C419* |
probably null |
Het |
| Zfp541 |
A |
G |
7: 15,816,917 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ahr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Ahr
|
APN |
12 |
35,554,096 (GRCm39) |
nonsense |
probably null |
|
|
IGL01336:Ahr
|
APN |
12 |
35,553,839 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01972:Ahr
|
APN |
12 |
35,554,448 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02117:Ahr
|
APN |
12 |
35,562,922 (GRCm39) |
nonsense |
probably null |
|
|
IGL03028:Ahr
|
APN |
12 |
35,554,709 (GRCm39) |
missense |
probably benign |
|
|
IGL03110:Ahr
|
APN |
12 |
35,554,970 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03394:Ahr
|
APN |
12 |
35,553,751 (GRCm39) |
nonsense |
probably null |
|
|
IGL03403:Ahr
|
APN |
12 |
35,554,325 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
BB002:Ahr
|
UTSW |
12 |
35,565,067 (GRCm39) |
nonsense |
probably null |
|
|
BB012:Ahr
|
UTSW |
12 |
35,565,067 (GRCm39) |
nonsense |
probably null |
|
|
R0620:Ahr
|
UTSW |
12 |
35,558,193 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1133:Ahr
|
UTSW |
12 |
35,576,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Ahr
|
UTSW |
12 |
35,554,531 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4678:Ahr
|
UTSW |
12 |
35,557,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5615:Ahr
|
UTSW |
12 |
35,553,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6066:Ahr
|
UTSW |
12 |
35,554,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6466:Ahr
|
UTSW |
12 |
35,554,031 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7369:Ahr
|
UTSW |
12 |
35,554,659 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7382:Ahr
|
UTSW |
12 |
35,554,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Ahr
|
UTSW |
12 |
35,554,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7819:Ahr
|
UTSW |
12 |
35,559,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7897:Ahr
|
UTSW |
12 |
35,554,169 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7925:Ahr
|
UTSW |
12 |
35,565,067 (GRCm39) |
nonsense |
probably null |
|
|
R8179:Ahr
|
UTSW |
12 |
35,560,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8274:Ahr
|
UTSW |
12 |
35,560,068 (GRCm39) |
missense |
probably benign |
|
|
R8342:Ahr
|
UTSW |
12 |
35,558,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Ahr
|
UTSW |
12 |
35,576,736 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9069:Ahr
|
UTSW |
12 |
35,562,771 (GRCm39) |
intron |
probably benign |
|
|
R9114:Ahr
|
UTSW |
12 |
35,561,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTATGCGATTTCCACAACATTCAAA -3'
(R):5'- AGGCAATGAATTTCCAAGGGAGGTTAAA -3'
Sequencing Primer
(F):5'- AGAGACAGGGTCTGTCATTTATTC -3'
(R):5'- GAATTTCCAAGGGAGGTTAAAGTATC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation