Incidental Mutation 'R7819:Ahr'
ID 601773
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 045873-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R7819 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 35547978-35584988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35559999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 218 (L218P)
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 damaging
Transcript: ENSMUST00000116436
AA Change: L218P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256
AA Change: L218P

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: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik C G 6: 52,156,254 (GRCm39) probably benign Het
Abcg3 T C 5: 105,125,594 (GRCm39) T30A probably benign Het
Adra1b A T 11: 43,726,194 (GRCm39) V241D probably damaging Het
Ahctf1 A T 1: 179,595,880 (GRCm39) N170K probably benign Het
Apol8 C T 15: 77,633,959 (GRCm39) V206M probably damaging Het
Arhgap11a T A 2: 113,665,263 (GRCm39) probably null Het
B3galnt1 T C 3: 69,483,108 (GRCm39) Y51C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Capn3 T C 2: 120,294,646 (GRCm39) V98A probably benign Het
Casp12 T C 9: 5,352,805 (GRCm39) L209P probably damaging Het
Ccdc96 A T 5: 36,643,329 (GRCm39) Q445L probably damaging Het
Cdc37 A G 9: 21,052,260 (GRCm39) S301P probably damaging Het
Cep89 A T 7: 35,131,968 (GRCm39) H634L probably benign Het
Cert1 A T 13: 96,765,575 (GRCm39) T447S possibly damaging Het
Cfap251 A G 5: 123,392,322 (GRCm39) probably benign Het
Chmp3 T A 6: 71,538,008 (GRCm39) Y12* probably null Het
Clgn A T 8: 84,134,829 (GRCm39) I156F possibly damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Crb2 T A 2: 37,681,603 (GRCm39) N815K probably benign Het
Crppa A G 12: 36,431,902 (GRCm39) T44A probably benign Het
Csgalnact2 A C 6: 118,098,050 (GRCm39) L97V possibly damaging Het
Ctsh T A 9: 89,942,556 (GRCm39) M37K possibly damaging Het
D630003M21Rik T C 2: 158,058,718 (GRCm39) E394G probably damaging Het
Ddx31 T G 2: 28,782,463 (GRCm39) L602R probably damaging Het
Defb40 T A 8: 19,025,050 (GRCm39) Y52F probably benign Het
Dip2a A G 10: 76,126,862 (GRCm39) V710A probably benign Het
Dnah2 T C 11: 69,407,419 (GRCm39) I150V probably benign Het
Eln A T 5: 134,766,035 (GRCm39) L56Q unknown Het
Ezh1 T C 11: 101,085,740 (GRCm39) N639S probably damaging Het
Fzd3 A G 14: 65,472,775 (GRCm39) F331S probably damaging Het
Gbp9 T C 5: 105,251,745 (GRCm39) T68A possibly damaging Het
Gltp A G 5: 114,812,161 (GRCm39) M104T probably benign Het
Gmps G A 3: 63,893,048 (GRCm39) V118M probably damaging Het
Gpsm1 T C 2: 26,229,705 (GRCm39) L42P probably damaging Het
Hsfy2 T A 1: 56,675,418 (GRCm39) H373L probably benign Het
Ica1l A T 1: 60,054,953 (GRCm39) F93I possibly damaging Het
Idh1 A G 1: 65,204,277 (GRCm39) S278P probably damaging Het
Ighmbp2 C T 19: 3,317,276 (GRCm39) G532D possibly damaging Het
Ikbkb A G 8: 23,161,742 (GRCm39) L382S probably benign Het
Il1rap T A 16: 26,541,151 (GRCm39) M464K possibly damaging Het
Ing2 G A 8: 48,122,063 (GRCm39) R162C probably damaging Het
Ints1 A T 5: 139,746,522 (GRCm39) L1275H probably damaging Het
Itga1 T C 13: 115,185,837 (GRCm39) E55G probably damaging Het
Itih4 T C 14: 30,623,620 (GRCm39) F930L probably benign Het
Kcnh8 A G 17: 53,263,743 (GRCm39) T747A probably benign Het
Kit A G 5: 75,806,592 (GRCm39) E699G probably benign Het
Lamc3 T C 2: 31,811,775 (GRCm39) S921P probably benign Het
Lrrc63 TGGCGGCGGCGGCGGCGGCGGC TGGCGGCGGCGGCGGCGGCGGCGGC 14: 75,362,661 (GRCm39) probably benign Het
Map10 TCAGTTGTCCAG TCAG 8: 126,397,260 (GRCm39) probably null Het
Map2k5 T C 9: 63,265,300 (GRCm39) E76G probably damaging Het
Mgat3 G T 15: 80,095,973 (GRCm39) E267* probably null Het
Nhsl3 A G 4: 129,116,276 (GRCm39) V841A probably benign Het
Npepps C A 11: 97,139,095 (GRCm39) G159V probably damaging Het
Nrap A G 19: 56,323,720 (GRCm39) V1284A probably benign Het
Or10a3 T A 7: 108,480,610 (GRCm39) I68F probably damaging Het
Or6c66b A T 10: 129,376,562 (GRCm39) H52L probably benign Het
Oxgr1 T C 14: 120,260,281 (GRCm39) probably null Het
Pcdhb18 T C 18: 37,624,308 (GRCm39) L546P possibly damaging Het
Pcdhga5 G A 18: 37,829,633 (GRCm39) V694M probably damaging Het
Pde9a A T 17: 31,679,174 (GRCm39) I255F possibly damaging Het
Pi4k2a G A 19: 42,079,013 (GRCm39) G25R probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ppp1r37 A G 7: 19,267,989 (GRCm39) I302T probably damaging Het
Prkar2a T A 9: 108,622,744 (GRCm39) Y311N probably damaging Het
Prkd3 A T 17: 79,279,930 (GRCm39) D254E probably benign Het
Prmt9 T C 8: 78,294,973 (GRCm39) V439A probably benign Het
Ptpra T C 2: 130,346,126 (GRCm39) S96P probably benign Het
Rnf103 A G 6: 71,485,914 (GRCm39) T182A probably benign Het
Rpusd4 A G 9: 35,179,228 (GRCm39) S15G probably benign Het
Sco1 A G 11: 66,949,219 (GRCm39) Y229C probably damaging Het
Skint5 T A 4: 113,417,032 (GRCm39) Q1139L unknown Het
Slc16a12 A G 19: 34,652,579 (GRCm39) V189A probably damaging Het
Slfn8 T G 11: 82,895,081 (GRCm39) N575T probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Stard9 T C 2: 120,531,465 (GRCm39) L2574P probably damaging Het
Syn3 A T 10: 85,891,404 (GRCm39) probably benign Het
Tspo2 A T 17: 48,756,985 (GRCm39) D32E probably damaging Het
Vmn1r72 A G 7: 11,403,552 (GRCm39) F299L probably benign Het
Xbp1 G A 11: 5,474,886 (GRCm39) M262I probably benign Het
Zfp354b G A 11: 50,814,632 (GRCm39) Q98* probably null Het
Zfp582 A C 7: 6,357,165 (GRCm39) H326P 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
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
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'- CCTCACTGTACCATAGGTGC -3'
(R):5'- GTTTAAAGTCTGTCACCACTGTCAC -3'

Sequencing Primer
(F):5'- ACACCAGGCTTTTACAGGGGTTC -3'
(R):5'- CCCTTGATTTCACAGCAGATGTAAGG -3'
Posted On 2019-12-03