Incidental Mutation 'R8179:Ahr'
ID 634570
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 067604-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R8179 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 35547978-35584988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35560050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 201 (Q201R)
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: Q201R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256
AA Change: Q201R

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: 99.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,136,100 (GRCm39) Y170H probably damaging Het
Ace3 G T 11: 105,895,383 (GRCm39) V602L probably benign Het
Aldh18a1 A C 19: 40,545,952 (GRCm39) C612G probably damaging Het
Ankrd40 G A 11: 94,225,541 (GRCm39) A191T probably benign Het
Aox1 A G 1: 58,137,117 (GRCm39) D1169G probably damaging Het
Arfgap2 T C 2: 91,105,668 (GRCm39) F505L probably damaging Het
Arhgap40 T C 2: 158,381,776 (GRCm39) F423L probably damaging Het
Atf6b T C 17: 34,872,968 (GRCm39) M628T probably damaging Het
Casp8ap2 T A 4: 32,643,939 (GRCm39) L1004* probably null Het
Cc2d2a T A 5: 43,857,295 (GRCm39) L494Q probably damaging Het
Cd180 T C 13: 102,842,141 (GRCm39) S396P probably benign Het
Cdk19 T C 10: 40,270,368 (GRCm39) I59T possibly damaging Het
Cfap54 G T 10: 92,833,178 (GRCm39) F1149L possibly damaging Het
Chp1 C T 2: 119,378,253 (GRCm39) probably benign Het
Clmp T C 9: 40,692,475 (GRCm39) F248S probably benign Het
Ctc1 T A 11: 68,915,050 (GRCm39) I237K probably benign Het
Dcaf1 G T 9: 106,735,115 (GRCm39) V688L probably damaging Het
Ddx54 T A 5: 120,765,167 (GRCm39) M812K probably benign Het
Disc1 C T 8: 125,814,316 (GRCm39) P60L probably benign Het
Disp2 C G 2: 118,623,030 (GRCm39) P1254R probably damaging Het
Dnah11 T A 12: 117,842,284 (GRCm39) I4432F possibly damaging Het
Dnajc15 A T 14: 78,090,393 (GRCm39) I58N Het
Elovl5 A G 9: 77,884,181 (GRCm39) N159S probably damaging Het
Fgfr3 T C 5: 33,885,099 (GRCm39) V71A probably benign Het
Frs2 A T 10: 116,912,791 (GRCm39) H167Q probably damaging Het
Gm4553 A T 7: 141,718,594 (GRCm39) V278E unknown Het
Grin2d A T 7: 45,507,452 (GRCm39) Y416* probably null Het
Hmcn1 A T 1: 150,598,265 (GRCm39) V1679E probably benign Het
Igkv18-36 T C 6: 69,969,479 (GRCm39) Y105C probably damaging Het
Lingo1 T C 9: 56,527,134 (GRCm39) D491G probably damaging Het
Map3k1 A C 13: 111,885,581 (GRCm39) I1445M probably damaging Het
Med30 A T 15: 52,575,964 (GRCm39) Q20L probably damaging Het
Mgat5b A G 11: 116,822,554 (GRCm39) E96G probably benign Het
Mmp16 T A 4: 17,853,854 (GRCm39) probably null Het
Mogat1 A G 1: 78,504,255 (GRCm39) D176G possibly damaging Het
Mre11a T A 9: 14,708,362 (GRCm39) D142E probably null Het
Mybpc2 C A 7: 44,159,254 (GRCm39) V599L probably benign Het
Myot A T 18: 44,487,197 (GRCm39) R345* probably null Het
Or10d5 G A 9: 39,861,708 (GRCm39) R120C probably benign Het
Or10z1 T G 1: 174,078,130 (GRCm39) D121A possibly damaging Het
Or8g53 C T 9: 39,683,200 (GRCm39) V299I probably benign Het
Pglyrp2 T C 17: 32,635,003 (GRCm39) Y453C possibly damaging Het
Phrf1 A G 7: 140,836,493 (GRCm39) Y255C unknown Het
Plppr4 A G 3: 117,125,327 (GRCm39) S171P probably damaging Het
Ppip5k1 A T 2: 121,172,095 (GRCm39) probably null Het
Pramel57 T C 5: 95,667,753 (GRCm39) V111A probably benign Het
Rapgef3 A T 15: 97,658,621 (GRCm39) H170Q probably benign Het
Rnf10 ACCTCATCTCGTC AC 5: 115,398,176 (GRCm39) probably null Het
Rpe65 A G 3: 159,330,336 (GRCm39) Y501C probably benign Het
Ruvbl2 A G 7: 45,072,196 (GRCm39) I346T probably damaging Het
Sema3g A G 14: 30,942,542 (GRCm39) I48V probably benign Het
Slc4a10 A C 2: 62,073,792 (GRCm39) S285R possibly damaging Het
Slc6a11 G A 6: 114,222,567 (GRCm39) G521S probably benign Het
Slit3 A G 11: 35,554,903 (GRCm39) N912D probably benign Het
Traf3ip1 T C 1: 91,428,523 (GRCm39) V128A unknown Het
Trpc7 T A 13: 57,035,693 (GRCm39) N80I probably damaging Het
Ttc21b G A 2: 66,031,824 (GRCm39) H1031Y probably benign Het
Tubg2 A T 11: 101,051,082 (GRCm39) I235F probably benign Het
Ube2q2l A G 6: 136,378,240 (GRCm39) S197P probably damaging Het
Vmn2r118 A T 17: 55,915,484 (GRCm39) Y489N probably benign Het
Vmn2r54 G T 7: 12,366,018 (GRCm39) C305* probably null Het
Vmn2r86 G A 10: 130,288,953 (GRCm39) H183Y probably benign Het
Xrcc5 T C 1: 72,396,016 (GRCm39) V603A probably damaging Het
Zfp110 T A 7: 12,578,498 (GRCm39) Y136* probably null Het
Zfp112 C T 7: 23,825,063 (GRCm39) P348S 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
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'- GGAAAACACTGCACCACTTGAG -3'
(R):5'- GGAGGCAAGTTCTACAGCATAG -3'

Sequencing Primer
(F):5'- GCACCACTTGAGTTAATTTACTGGTC -3'
(R):5'- ACAGCATAGAAGTGTTTATGTGTTTG -3'
Posted On 2020-07-13