Incidental Mutation 'R9114:Ahr'
ID 692435
Institutional Source Beutler Lab
Gene Symbol Ahr
Ensembl Gene ENSMUSG00000019256
Gene Name aryl-hydrocarbon receptor
Synonyms In, bHLHe76, dioxin receptor, Ah, Ahh, Ahre
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R9114 (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 T at 35561164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 150 (D150E)
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: D150E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256
AA Change: D150E

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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,788,702 (GRCm39) L1027* probably null Het
Actl11 T A 9: 107,808,509 (GRCm39) M944K possibly damaging Het
Afap1l2 T C 19: 56,906,427 (GRCm39) K491E probably damaging Het
Arhgef1 T A 7: 24,607,304 (GRCm39) L17Q probably damaging Het
Bysl A G 17: 47,915,242 (GRCm39) S169P Het
C4b A T 17: 34,948,404 (GRCm39) F1610I probably damaging Het
Chtf8 C A 8: 107,612,481 (GRCm39) A153S probably benign Het
Ciapin1 C T 8: 95,558,400 (GRCm39) probably null Het
Cnnm1 A G 19: 43,429,395 (GRCm39) E171G possibly damaging Het
Crybb3 T C 5: 113,225,407 (GRCm39) N155S probably benign Het
Dclk3 T A 9: 111,317,683 (GRCm39) M773K probably benign Het
Ddx18 A T 1: 121,489,267 (GRCm39) V260D probably damaging Het
Dmxl2 T A 9: 54,307,321 (GRCm39) N2216Y Het
Epn2 T C 11: 61,437,446 (GRCm39) E42G probably damaging Het
Esrrg C A 1: 187,878,605 (GRCm39) P229T probably benign Het
Esrrg C A 1: 187,878,606 (GRCm39) P229Q possibly damaging Het
Ethe1 G T 7: 24,305,643 (GRCm39) R130L probably benign Het
Fgl2 G A 5: 21,580,363 (GRCm39) C235Y probably damaging Het
Fmnl1 C T 11: 103,087,327 (GRCm39) T890M unknown Het
Fsip2 C G 2: 82,807,301 (GRCm39) P1207A probably benign Het
Gc C T 5: 89,593,165 (GRCm39) D85N possibly damaging Het
Gfi1 G A 5: 107,869,370 (GRCm39) R287W probably damaging Het
Gm3629 T C 14: 17,834,566 (GRCm39) probably null Het
Hapln3 A G 7: 78,771,712 (GRCm39) F59S probably benign Het
Il24 G A 1: 130,813,483 (GRCm39) T38I possibly damaging Het
Izumo1 A G 7: 45,276,583 (GRCm39) D382G probably benign Het
Kdm5a T A 6: 120,382,887 (GRCm39) Y739* probably null Het
Kif2b T A 11: 91,466,538 (GRCm39) I582F possibly damaging Het
Klhdc1 A G 12: 69,288,783 (GRCm39) Y31C probably damaging Het
Lama1 G A 17: 68,128,669 (GRCm39) E3009K Het
Mad2l1bp G A 17: 46,458,958 (GRCm39) R191C probably damaging Het
Mark1 A C 1: 184,644,261 (GRCm39) S468A probably damaging Het
Mknk2 T A 10: 80,504,823 (GRCm39) N236Y probably damaging Het
Muc2 T A 7: 141,287,983 (GRCm39) C251* probably null Het
Nacad T C 11: 6,552,252 (GRCm39) D313G probably damaging Het
Neb G T 2: 52,099,599 (GRCm39) D4750E probably benign Het
Nlrp6 T C 7: 140,506,332 (GRCm39) S758P probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or13a28 A C 7: 140,218,282 (GRCm39) I223L probably benign Het
Or51b4 T C 7: 103,530,569 (GRCm39) T294A possibly damaging Het
Or8b3b A G 9: 38,583,892 (GRCm39) F283L probably benign Het
Oxtr A G 6: 112,466,481 (GRCm39) V93A probably damaging Het
Pbx3 C A 2: 34,103,271 (GRCm39) D234Y probably damaging Het
Pde4b A T 4: 102,459,826 (GRCm39) T554S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pid1 A T 1: 84,015,955 (GRCm39) Y151N probably damaging Het
Plcd4 A G 1: 74,591,307 (GRCm39) E234G possibly damaging Het
Pou6f1 A G 15: 100,478,789 (GRCm39) V373A probably benign Het
Ppp1r12c T C 7: 4,485,792 (GRCm39) K685E possibly damaging Het
Rnf34 T A 5: 122,999,957 (GRCm39) V71D probably damaging Het
Rpap2 T G 5: 107,746,156 (GRCm39) H11Q possibly damaging Het
Skint2 A G 4: 112,496,834 (GRCm39) T247A probably benign Het
Stat5b T A 11: 100,692,350 (GRCm39) N145Y probably damaging Het
Sv2b A G 7: 74,856,017 (GRCm39) L91P probably damaging Het
Syt1 A G 10: 108,340,376 (GRCm39) I314T probably damaging Het
Tlk1 A T 2: 70,572,502 (GRCm39) N355K probably benign Het
Tnc C A 4: 63,890,973 (GRCm39) M1636I probably benign Het
Trank1 C A 9: 111,162,843 (GRCm39) A34D probably damaging Het
Unc13c A G 9: 73,719,665 (GRCm39) I1001T probably benign Het
Vdr T C 15: 97,765,136 (GRCm39) D201G probably benign Het
Vmn2r115 A T 17: 23,564,307 (GRCm39) I160L probably benign Het
Wdr81 C A 11: 75,335,250 (GRCm39) R1772L probably damaging Het
Zfp457 T C 13: 67,442,068 (GRCm39) D169G 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
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
Predicted Primers PCR Primer
(F):5'- CCCTATCTTCAGCATGGAGC -3'
(R):5'- AACAGGAAGCTGCCTTGTG -3'

Sequencing Primer
(F):5'- GGAGCTCTATGCCTTTCTTTCATAG -3'
(R):5'- AAGCTGCCTTGTGAGCCAGAG -3'
Posted On 2021-12-30