Incidental Mutation 'R6225:Ahrr'
ID 504287
Institutional Source Beutler Lab
Gene Symbol Ahrr
Ensembl Gene ENSMUSG00000021575
Gene Name aryl-hydrocarbon receptor repressor
Synonyms
MMRRC Submission 044356-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6225 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 74359237-74440450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74371031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 230 (S230P)
Ref Sequence ENSEMBL: ENSMUSP00000022059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022059] [ENSMUST00000109640]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022059
AA Change: S230P

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022059
Gene: ENSMUSG00000021575
AA Change: S230P

DomainStartEndE-ValueType
HLH 32 86 1.1e-11 SMART
PAS 108 174 6.6e-14 SMART
low complexity region 236 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109640
AA Change: S102P

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105268
Gene: ENSMUSG00000021575
AA Change: S102P

DomainStartEndE-ValueType
Blast:PAS 1 46 1e-27 BLAST
PDB:4M4X|B 1 142 2e-30 PDB
SCOP:d1jnua_ 2 63 7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222649
Meta Mutation Damage Score 0.8126 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: This gene encodes a protein that represses aryl hydrocarbon receptor-dependent signaling. The encoded protein competes with the aryl hydrocarbon receptor transcription factor for heterodimerization with the aryl hydrocarbon receptor nuclear translocator protein and binding to xenobiotic response element (XRE) sequence in many genes. This protein is implicated in the regulation of cell growth and differentiation as well as mediating dioxin toxicity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,870,445 (GRCm39) H288R possibly damaging Het
Adh1 T C 3: 137,995,565 (GRCm39) F323L probably benign Het
Adss1 A C 12: 112,600,837 (GRCm39) H226P probably damaging Het
Akap9 T C 5: 4,012,105 (GRCm39) V936A probably damaging Het
B4galnt2 A G 11: 95,759,268 (GRCm39) Y339H probably damaging Het
Bltp1 T C 3: 37,002,453 (GRCm39) V1466A probably damaging Het
C4b C A 17: 34,957,848 (GRCm39) G611V possibly damaging Het
Cacna1i A G 15: 80,205,427 (GRCm39) M128V probably damaging Het
Chia1 T C 3: 106,038,213 (GRCm39) S370P possibly damaging Het
Cops6 T C 5: 138,159,673 (GRCm39) V9A possibly damaging Het
D630003M21Rik A T 2: 158,059,321 (GRCm39) I193K probably benign Het
Daam2 T C 17: 49,801,467 (GRCm39) D90G probably damaging Het
Fads3 A G 19: 10,019,202 (GRCm39) D36G probably benign Het
Fam185a T C 5: 21,630,554 (GRCm39) V130A probably damaging Het
Fbn1 A T 2: 125,172,463 (GRCm39) N1928K probably damaging Het
Fstl3 A G 10: 79,615,843 (GRCm39) M110V probably benign Het
G2e3 A G 12: 51,415,919 (GRCm39) T552A possibly damaging Het
Gfra1 G A 19: 58,226,830 (GRCm39) T462I probably damaging Het
Glrx2 T A 1: 143,621,121 (GRCm39) probably benign Het
Gm10100 G T 10: 77,562,498 (GRCm39) C60F possibly damaging Het
Gm43302 T A 5: 105,425,605 (GRCm39) K275* probably null Het
Gm6569 A G 15: 73,711,640 (GRCm39) probably benign Het
Herc6 G T 6: 57,639,139 (GRCm39) V867L possibly damaging Het
Hhipl2 T A 1: 183,209,459 (GRCm39) probably null Het
Kcnj16 A T 11: 110,916,378 (GRCm39) K347* probably null Het
Kcnt2 T A 1: 140,354,661 (GRCm39) C305* probably null Het
Large2 A G 2: 92,196,825 (GRCm39) L477P probably damaging Het
Lnpep T C 17: 17,799,245 (GRCm39) T137A possibly damaging Het
Mettl3 T C 14: 52,534,215 (GRCm39) probably null Het
Mical3 C T 6: 120,935,684 (GRCm39) S1614N probably damaging Het
Mmut T A 17: 41,249,622 (GRCm39) V199E possibly damaging Het
Morc3 C A 16: 93,642,082 (GRCm39) Y100* probably null Het
Mrc2 A G 11: 105,237,646 (GRCm39) K1108R probably benign Het
Mrpl2 T C 17: 46,960,835 (GRCm39) V243A probably damaging Het
Mtor T A 4: 148,605,794 (GRCm39) N1505K probably benign Het
Myo1g A T 11: 6,469,168 (GRCm39) Y45N probably damaging Het
Nckap5l C A 15: 99,325,905 (GRCm39) L199F possibly damaging Het
Ndufc2 A G 7: 97,056,099 (GRCm39) T66A probably damaging Het
Nos1 T A 5: 118,050,917 (GRCm39) H779Q probably damaging Het
Or12e13 A G 2: 87,663,661 (GRCm39) T93A probably benign Het
Or13j1 T C 4: 43,705,698 (GRCm39) Y290C probably damaging Het
Or1e23 T C 11: 73,407,831 (GRCm39) N65D probably damaging Het
Or4c3 A G 2: 89,851,573 (GRCm39) probably null Het
Or51ah3 A T 7: 103,210,489 (GRCm39) R268S probably benign Het
Or5au1 C A 14: 52,272,825 (GRCm39) V248L possibly damaging Het
Or5k16 T C 16: 58,736,545 (GRCm39) N153S probably benign Het
Otog C T 7: 45,898,458 (GRCm39) T192I possibly damaging Het
Oxct1 T C 15: 4,064,812 (GRCm39) V50A probably benign Het
P3h2 T A 16: 25,784,493 (GRCm39) D667V probably damaging Het
Pcdhb20 A G 18: 37,638,047 (GRCm39) Y191C probably damaging Het
Pds5b T G 5: 150,670,083 (GRCm39) V357G probably damaging Het
Pggt1b A G 18: 46,407,674 (GRCm39) V81A possibly damaging Het
Phxr2 A G 10: 98,962,043 (GRCm39) probably benign Het
Pnpt1 T C 11: 29,095,469 (GRCm39) I406T probably benign Het
Ppat T C 5: 77,070,202 (GRCm39) I173V probably damaging Het
Proser3 T C 7: 30,243,153 (GRCm39) S167G probably damaging Het
Rnf135 A C 11: 80,080,053 (GRCm39) T115P possibly damaging Het
Rpl22 C T 4: 152,414,536 (GRCm39) R65C probably benign Het
Scel T C 14: 103,829,420 (GRCm39) F405L probably benign Het
Serinc3 A G 2: 163,469,799 (GRCm39) Y350H probably damaging Het
Slc25a16 C A 10: 62,764,102 (GRCm39) T53K probably damaging Het
Slco1a1 A T 6: 141,870,215 (GRCm39) F308I possibly damaging Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Smok3c T C 5: 138,063,314 (GRCm39) V267A probably benign Het
Ssrp1 A G 2: 84,873,158 (GRCm39) D473G probably benign Het
Svs6 A G 2: 164,159,405 (GRCm39) E56G possibly damaging Het
Tas2r130 TCATTTC T 6: 131,607,547 (GRCm39) probably benign Het
Thoc3 T C 13: 54,615,785 (GRCm39) N93S probably benign Het
Tle6 A G 10: 81,428,600 (GRCm39) C443R probably damaging Het
Tmed6 A G 8: 107,788,371 (GRCm39) F192S probably damaging Het
Tpx2 A G 2: 152,718,548 (GRCm39) N184D probably benign Het
Vmn2r31 T A 7: 7,397,638 (GRCm39) N207Y probably benign Het
Zfp267 T C 3: 36,220,352 (GRCm39) F792L probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp972 A T 2: 177,549,117 (GRCm39) probably null Het
Zzef1 G A 11: 72,760,631 (GRCm39) C1318Y possibly damaging Het
Other mutations in Ahrr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Ahrr APN 13 74,368,692 (GRCm39) missense possibly damaging 0.52
IGL03143:Ahrr APN 13 74,405,614 (GRCm39) nonsense probably null
calico_jack UTSW 13 74,371,031 (GRCm39) missense possibly damaging 0.51
piracy UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0009:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0010:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0010:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0040:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0079:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0082:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0164:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0165:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0167:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0310:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0344:Ahrr UTSW 13 74,362,705 (GRCm39) missense probably damaging 1.00
R0948:Ahrr UTSW 13 74,361,888 (GRCm39) missense probably damaging 1.00
R1192:Ahrr UTSW 13 74,362,522 (GRCm39) missense probably benign 0.00
R1438:Ahrr UTSW 13 74,372,987 (GRCm39) nonsense probably null
R1532:Ahrr UTSW 13 74,361,826 (GRCm39) missense probably benign 0.01
R1600:Ahrr UTSW 13 74,362,497 (GRCm39) missense probably benign 0.00
R2302:Ahrr UTSW 13 74,425,780 (GRCm39) missense probably damaging 1.00
R3055:Ahrr UTSW 13 74,373,006 (GRCm39) missense probably damaging 1.00
R4683:Ahrr UTSW 13 74,372,885 (GRCm39) splice site silent
R4717:Ahrr UTSW 13 74,363,885 (GRCm39) missense probably benign 0.03
R4769:Ahrr UTSW 13 74,362,331 (GRCm39) missense probably damaging 1.00
R5998:Ahrr UTSW 13 74,361,955 (GRCm39) missense probably damaging 0.99
R7156:Ahrr UTSW 13 74,378,035 (GRCm39) missense probably damaging 1.00
R7424:Ahrr UTSW 13 74,405,664 (GRCm39) nonsense probably null
R8441:Ahrr UTSW 13 74,362,182 (GRCm39) missense probably benign 0.03
R8502:Ahrr UTSW 13 74,431,193 (GRCm39) missense probably damaging 1.00
R8534:Ahrr UTSW 13 74,368,799 (GRCm39) missense probably damaging 1.00
Z1177:Ahrr UTSW 13 74,372,895 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTTAGGACATGCTGGGGAAATA -3'
(R):5'- GTCAGACAATACTGTCCTGGGGA -3'

Sequencing Primer
(F):5'- TACTACATCTCCAGTCCTAG -3'
(R):5'- AAGAAGGAGGCAAGGGCTTG -3'
Posted On 2018-02-28