Incidental Mutation 'R7369:Ahr'
ID 572022
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 045453-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R7369 (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 T at 35554659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 487 (W487R)
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 possibly damaging
Transcript: ENSMUST00000116436
AA Change: W487R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256
AA Change: W487R

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (77/77)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik C T 7: 29,989,377 (GRCm39) L196F unknown Het
Apaf1 A G 10: 90,836,898 (GRCm39) S1060P probably damaging Het
Atf7 G T 15: 102,462,244 (GRCm39) P126H probably damaging Het
B3gnt5 C A 16: 19,588,410 (GRCm39) Q210K probably benign Het
Begain T C 12: 108,999,853 (GRCm39) Y306C possibly damaging Het
Car5a T C 8: 122,650,573 (GRCm39) K157R probably benign Het
Car5b A C X: 162,797,836 (GRCm39) S35R probably benign Het
Cdh6 A G 15: 13,042,724 (GRCm39) V478A probably damaging Het
Cdyl A G 13: 35,999,992 (GRCm39) E91G probably damaging Het
Cep135 A C 5: 76,741,100 (GRCm39) K59Q possibly damaging Het
Clec2m T A 6: 129,308,496 (GRCm39) Q11L possibly damaging Het
Cnot3 T A 7: 3,656,330 (GRCm39) D205E possibly damaging Het
Dgkd G A 1: 87,849,344 (GRCm39) G379R probably damaging Het
Dppa1 T A 11: 46,506,944 (GRCm39) probably null Het
Dsp G T 13: 38,381,501 (GRCm39) V2749F possibly damaging Het
E2f4 A G 8: 106,026,966 (GRCm39) K177E probably benign Het
Efcab5 G A 11: 77,008,661 (GRCm39) P819L possibly damaging Het
Ercc5 T A 1: 44,220,020 (GRCm39) S1097R probably benign Het
Erp44 T C 4: 48,218,183 (GRCm39) N162S probably benign Het
Evl A G 12: 108,652,824 (GRCm39) Y423C unknown Het
Fam78a T A 2: 31,959,699 (GRCm39) N137I probably damaging Het
Fcrl2 T C 3: 87,164,008 (GRCm39) N374D possibly damaging Het
Fcrla T G 1: 170,749,886 (GRCm39) D57A probably benign Het
Gm7145 A T 1: 117,913,838 (GRCm39) H240L probably benign Het
Kdm5a T A 6: 120,408,965 (GRCm39) N1549K possibly damaging Het
Kirrel1 C T 3: 87,048,391 (GRCm39) R9H probably benign Het
Klf7 T C 1: 64,160,300 (GRCm39) probably null Het
Lce1d G A 3: 92,593,390 (GRCm39) Q8* probably null Het
Lcn4 T C 2: 26,557,906 (GRCm39) H180R probably benign Het
Lmntd1 T A 6: 145,359,301 (GRCm39) Y283F probably damaging Het
Lrp1b C T 2: 41,172,051 (GRCm39) R1646K Het
Map3k21 C A 8: 126,637,855 (GRCm39) A147E possibly damaging Het
Mapk8ip2 T C 15: 89,338,454 (GRCm39) S11P probably benign Het
Mdn1 T A 4: 32,773,375 (GRCm39) F5518L probably damaging Het
Msh3 T A 13: 92,435,770 (GRCm39) T510S probably benign Het
Myh1 A T 11: 67,111,524 (GRCm39) Q1654H probably damaging Het
Ncbp3 T C 11: 72,968,747 (GRCm39) V506A probably benign Het
Nfkbiz A G 16: 55,642,209 (GRCm39) S70P probably damaging Het
Nmi T C 2: 51,840,096 (GRCm39) D215G possibly damaging Het
Nphp3 T C 9: 103,895,449 (GRCm39) S496P probably damaging Het
Nrp1 T A 8: 129,158,396 (GRCm39) C228S probably damaging Het
Or6c5c A T 10: 129,299,390 (GRCm39) M282L probably benign Het
Pcdh9 C A 14: 94,123,803 (GRCm39) R789L possibly damaging Het
Pigr A T 1: 130,769,503 (GRCm39) T105S probably benign Het
Polr2a A C 11: 69,636,803 (GRCm39) S383A probably benign Het
Prr35 G A 17: 26,166,934 (GRCm39) S201L probably damaging Het
Psd3 T A 8: 68,356,818 (GRCm39) H634L possibly damaging Het
Ptgr2 T G 12: 84,339,080 (GRCm39) probably benign Het
Ptk6 A G 2: 180,840,254 (GRCm39) Y251H possibly damaging Het
Rnf213 A G 11: 119,321,294 (GRCm39) T1251A Het
Rtkn2 A G 10: 67,877,259 (GRCm39) K443E probably damaging Het
Rundc3a T A 11: 102,290,721 (GRCm39) L268Q probably damaging Het
Serpinb5 A G 1: 106,802,879 (GRCm39) E138G probably benign Het
Shroom1 A T 11: 53,356,075 (GRCm39) D375V probably benign Het
Siglecf A G 7: 43,001,241 (GRCm39) T70A probably damaging Het
Slc20a2 A T 8: 23,051,416 (GRCm39) E483V probably benign Het
Slc49a3 A G 5: 108,593,394 (GRCm39) V148A probably benign Het
Sort1 G A 3: 108,258,996 (GRCm39) G676D probably damaging Het
Spef2 T C 15: 9,584,293 (GRCm39) S1581G probably benign Het
Stx6 C T 1: 155,073,130 (GRCm39) R214* probably null Het
Stxbp5l A G 16: 36,954,703 (GRCm39) I950T probably benign Het
Tdrd7 T A 4: 46,013,239 (GRCm39) C660S possibly damaging Het
Tgm4 T A 9: 122,885,749 (GRCm39) probably null Het
Tmem67 T C 4: 12,053,535 (GRCm39) Y671C probably damaging Het
Ttc6 A T 12: 57,719,717 (GRCm39) probably null Het
Tut7 A G 13: 59,929,867 (GRCm39) I1458T possibly damaging Het
Uba2 A G 7: 33,850,239 (GRCm39) S405P possibly damaging Het
Usp34 T C 11: 23,382,361 (GRCm39) I2043T Het
Vmn1r12 T A 6: 57,136,683 (GRCm39) I260N possibly damaging Het
Vmn1r172 C T 7: 23,360,030 (GRCm39) T305I unknown Het
Vmn2r24 T C 6: 123,792,638 (GRCm39) V655A probably damaging Het
Wdr33 T C 18: 32,019,719 (GRCm39) S464P probably benign Het
Zfp260 T A 7: 29,804,750 (GRCm39) C217S probably damaging Het
Zfp760 A G 17: 21,942,214 (GRCm39) E463G probably benign Het
Zhx1 A G 15: 57,916,696 (GRCm39) Y517H probably damaging 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
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'- TTGAAGTCAACCTCACCAGC -3'
(R):5'- TAGCAGGAAAGACTGGGCTC -3'

Sequencing Primer
(F):5'- AGCAGCGGTGGAGTCAGTTC -3'
(R):5'- GGGCTCCCCAGTCAACC -3'
Posted On 2019-09-13