Incidental Mutation 'IGL01011:Arnt2'
ID 53654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arnt2
Ensembl Gene ENSMUSG00000015709
Gene Name aryl hydrocarbon receptor nuclear translocator 2
Synonyms bHLHe1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01011
Quality Score
Status
Chromosome 7
Chromosomal Location 83895486-84059201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83935037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 289 (D289V)
Ref Sequence ENSEMBL: ENSMUSP00000147129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085077] [ENSMUST00000208232] [ENSMUST00000209133]
AlphaFold Q61324
Predicted Effect probably benign
Transcript: ENSMUST00000085077
AA Change: D300V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: D300V

DomainStartEndE-ValueType
HLH 69 122 1.42e-14 SMART
PAS 137 204 1.28e-8 SMART
low complexity region 225 236 N/A INTRINSIC
PAS 325 391 4.15e-8 SMART
PAC 398 441 7.93e-5 SMART
low complexity region 502 526 N/A INTRINSIC
low complexity region 597 626 N/A INTRINSIC
low complexity region 653 675 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000208129
AA Change: D93V
Predicted Effect probably benign
Transcript: ENSMUST00000208232
AA Change: D289V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208936
Predicted Effect probably benign
Transcript: ENSMUST00000209133
AA Change: D289V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate this gene die shortly after birth, displaying impaired development of secretory neurons in the hypothalamus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,529 (GRCm39) C282S probably damaging Het
Abca12 T C 1: 71,302,791 (GRCm39) I2143V probably benign Het
Adgrg6 A C 10: 14,285,542 (GRCm39) I1148S probably damaging Het
Aox4 C T 1: 58,279,934 (GRCm39) R517* probably null Het
Atad2b A G 12: 5,015,984 (GRCm39) N570S probably benign Het
Aven G A 2: 112,460,130 (GRCm39) D208N possibly damaging Het
Bcl9l A G 9: 44,416,476 (GRCm39) D183G possibly damaging Het
Cd300lf A G 11: 115,015,159 (GRCm39) S144P probably benign Het
Chd8 C A 14: 52,468,989 (GRCm39) G543V possibly damaging Het
Chrm2 A G 6: 36,501,373 (GRCm39) N410S probably benign Het
Clip4 A G 17: 72,156,934 (GRCm39) I590V probably benign Het
Cnbp C T 6: 87,822,682 (GRCm39) R27H probably benign Het
Col4a3 T C 1: 82,660,022 (GRCm39) V889A unknown Het
Cxcl5 T C 5: 90,908,382 (GRCm39) probably benign Het
Dennd6a G T 14: 26,324,209 (GRCm39) V171F probably damaging Het
Dhx38 T C 8: 110,289,323 (GRCm39) I26V probably benign Het
Dscaml1 A G 9: 45,594,970 (GRCm39) D691G possibly damaging Het
Etfdh A T 3: 79,519,368 (GRCm39) probably benign Het
Fbn2 G A 18: 58,228,312 (GRCm39) probably benign Het
Foxp2 T A 6: 15,438,018 (GRCm39) *715R probably null Het
Ftl1 A T 7: 45,108,070 (GRCm39) D65E probably benign Het
Galm A G 17: 80,490,709 (GRCm39) T289A probably benign Het
Gm20721 A G 2: 174,187,531 (GRCm39) D1049G probably damaging Het
Gm28778 T C 1: 53,338,277 (GRCm39) V47A probably benign Het
Gm5414 T C 15: 101,536,569 (GRCm39) S19G probably benign Het
H1f6 C T 13: 23,880,032 (GRCm39) L62F probably damaging Het
Hdac7 T A 15: 97,691,816 (GRCm39) E835D possibly damaging Het
Hspg2 C T 4: 137,286,646 (GRCm39) T3663I probably damaging Het
Kdm4d A T 9: 14,375,515 (GRCm39) D114E probably benign Het
Kif5a A T 10: 127,075,065 (GRCm39) V516E probably benign Het
Lrrtm1 A G 6: 77,221,218 (GRCm39) probably null Het
Miga1 G T 3: 151,982,327 (GRCm39) T519K probably benign Het
Mtfr1l G A 4: 134,256,511 (GRCm39) P182S probably damaging Het
Myo15a A G 11: 60,367,818 (GRCm39) I193V probably benign Het
Myo1e T C 9: 70,223,871 (GRCm39) probably benign Het
Or13a26 A T 7: 140,284,350 (GRCm39) Y62F probably damaging Het
Or1e1c A T 11: 73,265,833 (GRCm39) Q86L probably benign Het
Or5h22 T A 16: 58,894,793 (GRCm39) T217S probably benign Het
Pias1 T C 9: 62,820,137 (GRCm39) T277A probably benign Het
Skic3 G A 13: 76,270,784 (GRCm39) C127Y probably damaging Het
Slamf6 T A 1: 171,765,666 (GRCm39) H263Q probably benign Het
Snrnp48 A G 13: 38,404,740 (GRCm39) D202G probably damaging Het
Snx13 T A 12: 35,148,279 (GRCm39) D269E probably damaging Het
Tiam2 A T 17: 3,465,303 (GRCm39) D344V probably benign Het
Tmem62 G T 2: 120,809,700 (GRCm39) K127N possibly damaging Het
Trav15-1-dv6-1 C T 14: 53,797,492 (GRCm39) T46I possibly damaging Het
Trav16d-dv11 C T 14: 53,285,041 (GRCm39) T39M possibly damaging Het
Trio T C 15: 27,736,575 (GRCm39) D2794G probably damaging Het
Trpc7 C T 13: 56,952,353 (GRCm39) G551D probably damaging Het
Ttn A G 2: 76,644,634 (GRCm39) V11294A possibly damaging Het
Ubap2 G A 4: 41,195,328 (GRCm39) probably benign Het
Ubap2l G A 3: 89,916,563 (GRCm39) Q915* probably null Het
Ubfd1 A G 7: 121,677,695 (GRCm39) E340G probably benign Het
Vil1 T C 1: 74,474,046 (GRCm39) probably null Het
Vmn1r6 T G 6: 56,979,529 (GRCm39) L42V probably benign Het
Vps13c A G 9: 67,834,237 (GRCm39) T1635A probably damaging Het
Zfhx3 T A 8: 109,520,226 (GRCm39) H449Q probably benign Het
Zfp750 A T 11: 121,403,922 (GRCm39) S318T probably benign Het
Other mutations in Arnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Arnt2 APN 7 83,924,616 (GRCm39) missense possibly damaging 0.70
IGL02331:Arnt2 APN 7 83,914,832 (GRCm39) missense probably damaging 1.00
IGL02483:Arnt2 APN 7 83,900,605 (GRCm39) missense probably damaging 1.00
IGL02863:Arnt2 APN 7 83,917,145 (GRCm39) missense probably damaging 1.00
IGL03207:Arnt2 APN 7 83,993,042 (GRCm39) missense possibly damaging 0.93
Arnold2 UTSW 7 83,996,738 (GRCm39) missense probably damaging 1.00
porker UTSW 7 83,993,150 (GRCm39) missense probably damaging 1.00
R0024:Arnt2 UTSW 7 83,933,334 (GRCm39) missense probably benign 0.03
R0058:Arnt2 UTSW 7 83,996,738 (GRCm39) missense probably damaging 1.00
R0058:Arnt2 UTSW 7 83,996,738 (GRCm39) missense probably damaging 1.00
R0060:Arnt2 UTSW 7 83,996,738 (GRCm39) missense probably damaging 1.00
R0113:Arnt2 UTSW 7 83,996,738 (GRCm39) missense probably damaging 1.00
R0114:Arnt2 UTSW 7 83,996,738 (GRCm39) missense probably damaging 1.00
R0201:Arnt2 UTSW 7 84,010,867 (GRCm39) nonsense probably null
R0514:Arnt2 UTSW 7 83,954,067 (GRCm39) missense probably benign 0.00
R0863:Arnt2 UTSW 7 83,914,792 (GRCm39) missense probably damaging 1.00
R1800:Arnt2 UTSW 7 83,924,583 (GRCm39) missense probably damaging 1.00
R1944:Arnt2 UTSW 7 83,992,959 (GRCm39) missense probably benign 0.01
R1964:Arnt2 UTSW 7 83,992,997 (GRCm39) missense possibly damaging 0.55
R2061:Arnt2 UTSW 7 83,993,078 (GRCm39) missense probably damaging 1.00
R2216:Arnt2 UTSW 7 83,924,559 (GRCm39) missense probably damaging 0.99
R3107:Arnt2 UTSW 7 83,911,652 (GRCm39) missense possibly damaging 0.95
R3410:Arnt2 UTSW 7 83,924,655 (GRCm39) missense probably damaging 1.00
R3739:Arnt2 UTSW 7 83,993,009 (GRCm39) missense probably null 1.00
R4258:Arnt2 UTSW 7 83,960,163 (GRCm39) missense probably damaging 0.98
R4486:Arnt2 UTSW 7 83,924,553 (GRCm39) missense probably benign 0.03
R4489:Arnt2 UTSW 7 83,924,553 (GRCm39) missense probably benign 0.03
R4668:Arnt2 UTSW 7 83,924,594 (GRCm39) missense probably damaging 1.00
R5685:Arnt2 UTSW 7 83,912,473 (GRCm39) missense probably benign 0.00
R5876:Arnt2 UTSW 7 83,996,720 (GRCm39) missense probably damaging 1.00
R5923:Arnt2 UTSW 7 83,911,741 (GRCm39) missense probably benign 0.32
R5926:Arnt2 UTSW 7 83,993,154 (GRCm39) missense probably damaging 0.99
R6122:Arnt2 UTSW 7 84,010,773 (GRCm39) missense probably damaging 1.00
R7021:Arnt2 UTSW 7 83,993,150 (GRCm39) missense probably damaging 1.00
R7895:Arnt2 UTSW 7 83,954,406 (GRCm39) missense probably benign
R7898:Arnt2 UTSW 7 83,918,155 (GRCm39) splice site probably null
R8386:Arnt2 UTSW 7 83,996,747 (GRCm39) missense probably damaging 1.00
R9038:Arnt2 UTSW 7 83,954,059 (GRCm39) missense probably benign
R9258:Arnt2 UTSW 7 84,010,798 (GRCm39) missense probably damaging 1.00
R9346:Arnt2 UTSW 7 83,931,321 (GRCm39) missense probably benign 0.04
R9452:Arnt2 UTSW 7 83,933,334 (GRCm39) missense probably benign 0.03
R9636:Arnt2 UTSW 7 83,993,042 (GRCm39) missense probably benign 0.44
R9780:Arnt2 UTSW 7 83,954,426 (GRCm39) missense probably benign 0.02
X0066:Arnt2 UTSW 7 83,934,992 (GRCm39) missense possibly damaging 0.93
Z1176:Arnt2 UTSW 7 83,912,404 (GRCm39) missense probably benign 0.41
Z1177:Arnt2 UTSW 7 83,912,415 (GRCm39) missense possibly damaging 0.81
Posted On 2013-06-28