Incidental Mutation 'R8274:Ahr'
ID 637914
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 067697-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R8274 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 35547978-35584988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35560068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 195 (V195G)
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

DomainStartEndE-ValueType
HLH 33 87 3.31e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116436
AA Change: V195G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256
AA Change: V195G

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (46/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T C 11: 3,844,964 (GRCm39) T42A possibly damaging Het
Adamts6 T C 13: 104,450,181 (GRCm39) V294A probably benign Het
Ankrd17 A T 5: 90,430,718 (GRCm39) I1022N probably benign Het
Arsk A T 13: 76,220,303 (GRCm39) C264S probably damaging Het
Astn2 A G 4: 65,570,098 (GRCm39) probably null Het
Atf7ip C A 6: 136,537,988 (GRCm39) T407K probably benign Het
Axl A G 7: 25,463,438 (GRCm39) I613T probably damaging Het
Baz2a T C 10: 127,957,716 (GRCm39) M1021T probably benign Het
Cacna2d2 T C 9: 107,401,861 (GRCm39) V765A possibly damaging Het
Chd7 T C 4: 8,839,432 (GRCm39) Y1323H probably damaging Het
Col7a1 G T 9: 108,799,029 (GRCm39) G1794V probably damaging Het
Csmd1 T C 8: 15,960,453 (GRCm39) M3321V possibly damaging Het
Dcp1b T C 6: 119,160,612 (GRCm39) S65P probably damaging Het
Depdc7 A G 2: 104,558,551 (GRCm39) S157P probably benign Het
Dnah1 T A 14: 31,017,531 (GRCm39) H1500L probably benign Het
Erbb2 C T 11: 98,324,722 (GRCm39) A772V probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 T A 9: 16,288,786 (GRCm39) K246* probably null Het
Fbxl9 T A 8: 106,042,166 (GRCm39) I221F probably benign Het
Gbp4 T C 5: 105,267,338 (GRCm39) N527S probably benign Het
Gpr157 C T 4: 150,172,500 (GRCm39) T97M probably damaging Het
Gpt2 T C 8: 86,242,853 (GRCm39) L295P probably benign Het
Grm8 T A 6: 27,761,335 (GRCm39) K296N probably benign Het
Gss T A 2: 155,429,424 (GRCm39) I23L probably benign Het
Hk3 A G 13: 55,159,230 (GRCm39) V442A possibly damaging Het
Hoxa3 C A 6: 52,147,524 (GRCm39) R243L unknown Het
Junb T A 8: 85,705,058 (GRCm39) M1L possibly damaging Het
Kcnh6 T C 11: 105,910,987 (GRCm39) I514T probably damaging Het
Kif11 C A 19: 37,391,994 (GRCm39) T463N probably damaging Het
Lmf2 C T 15: 89,236,866 (GRCm39) G459S probably damaging Het
Lpl A G 8: 69,345,250 (GRCm39) T85A possibly damaging Het
Myo9b G A 8: 71,812,480 (GRCm39) A2084T probably benign Het
Oog4 T A 4: 143,166,459 (GRCm39) probably benign Het
Or7g18 T A 9: 18,786,795 (GRCm39) H57Q probably benign Het
Polr2a G A 11: 69,638,882 (GRCm39) R51C probably damaging Het
Ppip5k2 A G 1: 97,686,941 (GRCm39) V94A possibly damaging Het
Ptprk G T 10: 28,456,408 (GRCm39) R1056L probably damaging Het
Rfx2 C T 17: 57,111,348 (GRCm39) A75T probably benign Het
Scn11a T C 9: 119,632,548 (GRCm39) T441A probably benign Het
Siglec1 A G 2: 130,925,830 (GRCm39) V292A probably benign Het
Smok2a G A 17: 13,445,781 (GRCm39) A453T probably benign Het
Tmcc3 T C 10: 94,422,738 (GRCm39) V427A probably damaging Het
Tmem208 T G 8: 106,055,257 (GRCm39) I106S probably damaging Het
Tpr A G 1: 150,299,230 (GRCm39) probably benign Het
Trav9-2 G T 14: 53,828,810 (GRCm39) R60L probably benign Het
Vcan T C 13: 89,853,089 (GRCm39) K624E probably benign Het
Zfp318 A T 17: 46,723,915 (GRCm39) M1973L probably benign Het
Other mutations in Ahr
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0784:Ahr UTSW 12 35,558,141 (GRCm39) missense possibly damaging 0.79
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
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'- GGAAAACACTGCACCACTTGAG -3'
(R):5'- GGAGGCAAGTTCTACAGCATAG -3'

Sequencing Primer
(F):5'- GCACCACTTGAGTTAATTTACTGGTC -3'
(R):5'- ACAGCATAGAAGTGTTTATGTGTTTG -3'
Posted On 2020-07-28