Incidental Mutation 'IGL02331:Arnt2'
ID288657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arnt2
Ensembl Gene ENSMUSG00000015709
Gene Namearyl hydrocarbon receptor nuclear translocator 2
SynonymsbHLHe1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02331
Quality Score
Status
Chromosome7
Chromosomal Location84246278-84410176 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84265624 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 511 (Y511H)
Ref Sequence ENSEMBL: ENSMUSP00000147129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085077] [ENSMUST00000208232] [ENSMUST00000209133]
Predicted Effect probably damaging
Transcript: ENSMUST00000085077
AA Change: Y522H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: Y522H

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 noncoding transcript
Transcript: ENSMUST00000207459
Predicted Effect probably benign
Transcript: ENSMUST00000208129
Predicted Effect probably damaging
Transcript: ENSMUST00000208232
AA Change: Y511H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000208564
Predicted Effect probably damaging
Transcript: ENSMUST00000209133
AA Change: Y511H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,971,344 F241L possibly damaging Het
Alx1 A G 10: 103,022,299 F180L possibly damaging Het
Apaf1 T C 10: 91,059,619 D428G probably damaging Het
Arap2 G T 5: 62,649,682 probably benign Het
Bmp7 A T 2: 172,872,931 C362S probably damaging Het
Bpifb9a A G 2: 154,262,387 D250G possibly damaging Het
Ccnk T A 12: 108,189,084 L100H probably damaging Het
Cdh23 T C 10: 60,465,543 I451V probably damaging Het
Cemip A G 7: 83,963,984 probably null Het
Cep78 T A 19: 15,974,415 Q342L probably benign Het
Clca3b T C 3: 144,841,406 probably benign Het
Cpb2 A G 14: 75,283,404 R420G possibly damaging Het
Cyp2c50 A T 19: 40,090,943 probably null Het
Dbnl T C 11: 5,799,997 *433R probably null Het
Elovl5 T C 9: 77,979,899 S191P possibly damaging Het
Fbxo42 A G 4: 141,167,846 E40G probably benign Het
Fpgt T C 3: 155,087,862 D176G possibly damaging Het
Gm1110 C A 9: 26,913,287 probably null Het
Grik4 A T 9: 42,541,988 S700R probably damaging Het
Herc4 T C 10: 63,264,160 S121P probably benign Het
Hps4 T C 5: 112,369,536 V263A probably benign Het
Hsd11b1 A C 1: 193,240,616 L81R probably damaging Het
Ift122 T C 6: 115,887,324 M310T probably damaging Het
Isg20l2 G T 3: 87,932,087 V202L probably damaging Het
Klf3 A G 5: 64,829,072 K111E probably damaging Het
Kxd1 T C 8: 70,515,440 T128A probably benign Het
Lgals7 A G 7: 28,865,718 T94A probably benign Het
Lrp5 T C 19: 3,591,816 H1382R possibly damaging Het
Muc6 T C 7: 141,640,459 T1434A possibly damaging Het
Mybl2 C T 2: 163,074,685 R419W probably damaging Het
Myo5b A T 18: 74,638,040 probably null Het
Myo7a A G 7: 98,053,182 V2138A possibly damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Ntrk2 T C 13: 58,846,856 probably null Het
Olfr935 A G 9: 38,995,106 S110P probably damaging Het
Osbpl5 A G 7: 143,709,795 V105A probably benign Het
Pfkp A C 13: 6,597,960 F527V probably benign Het
Pilra C A 5: 137,835,655 G47* probably null Het
Pkdrej C A 15: 85,821,327 C136F probably damaging Het
Ppp1r16a T A 15: 76,691,000 M36K probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf40 T C 7: 127,589,827 V124A probably benign Het
St7l A G 3: 104,926,588 T522A probably damaging Het
Stox2 G A 8: 47,191,944 P891L probably damaging Het
Trbv12-1 T C 6: 41,114,038 S115P probably damaging Het
Trpm1 A G 7: 64,235,052 D827G probably benign Het
Ttll6 T A 11: 96,135,747 M119K probably damaging Het
Ufl1 C A 4: 25,251,971 C568F probably damaging Het
Usp29 A T 7: 6,962,156 I333F probably benign Het
Vta1 G A 10: 14,705,394 T23M probably damaging Het
Zswim8 A G 14: 20,723,257 D1771G probably damaging Het
Other mutations in Arnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Arnt2 APN 7 84285829 missense probably benign 0.01
IGL01525:Arnt2 APN 7 84275408 missense possibly damaging 0.70
IGL02483:Arnt2 APN 7 84251397 missense probably damaging 1.00
IGL02863:Arnt2 APN 7 84267937 missense probably damaging 1.00
IGL03207:Arnt2 APN 7 84343834 missense possibly damaging 0.93
Arnold2 UTSW 7 84347530 missense probably damaging 1.00
porker UTSW 7 84343942 missense probably damaging 1.00
R0024:Arnt2 UTSW 7 84284126 missense probably benign 0.03
R0058:Arnt2 UTSW 7 84347530 missense probably damaging 1.00
R0058:Arnt2 UTSW 7 84347530 missense probably damaging 1.00
R0060:Arnt2 UTSW 7 84347530 missense probably damaging 1.00
R0113:Arnt2 UTSW 7 84347530 missense probably damaging 1.00
R0114:Arnt2 UTSW 7 84347530 missense probably damaging 1.00
R0201:Arnt2 UTSW 7 84361659 nonsense probably null
R0514:Arnt2 UTSW 7 84304859 missense probably benign 0.00
R0863:Arnt2 UTSW 7 84265584 missense probably damaging 1.00
R1800:Arnt2 UTSW 7 84275375 missense probably damaging 1.00
R1944:Arnt2 UTSW 7 84343751 missense probably benign 0.01
R1964:Arnt2 UTSW 7 84343789 missense possibly damaging 0.55
R2061:Arnt2 UTSW 7 84343870 missense probably damaging 1.00
R2216:Arnt2 UTSW 7 84275351 missense probably damaging 0.99
R3107:Arnt2 UTSW 7 84262444 missense possibly damaging 0.95
R3410:Arnt2 UTSW 7 84275447 missense probably damaging 1.00
R3739:Arnt2 UTSW 7 84343801 missense probably null 1.00
R4258:Arnt2 UTSW 7 84310955 missense probably damaging 0.98
R4486:Arnt2 UTSW 7 84275345 missense probably benign 0.03
R4489:Arnt2 UTSW 7 84275345 missense probably benign 0.03
R4668:Arnt2 UTSW 7 84275386 missense probably damaging 1.00
R5685:Arnt2 UTSW 7 84263265 missense probably benign 0.00
R5876:Arnt2 UTSW 7 84347512 missense probably damaging 1.00
R5923:Arnt2 UTSW 7 84262533 missense probably benign 0.32
R5926:Arnt2 UTSW 7 84343946 missense probably damaging 0.99
R6122:Arnt2 UTSW 7 84361565 missense probably damaging 1.00
R7021:Arnt2 UTSW 7 84343942 missense probably damaging 1.00
R7895:Arnt2 UTSW 7 84305198 missense probably benign
R7978:Arnt2 UTSW 7 84305198 missense probably benign
R7981:Arnt2 UTSW 7 84268947 intron probably null
X0066:Arnt2 UTSW 7 84285784 missense possibly damaging 0.93
Z1176:Arnt2 UTSW 7 84263196 missense probably benign 0.41
Z1177:Arnt2 UTSW 7 84263207 missense possibly damaging 0.81
Posted On2015-04-16