Incidental Mutation 'IGL02863:Arnt2'
ID362217
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 #IGL02863
Quality Score
Status
Chromosome7
Chromosomal Location84246278-84410176 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84267937 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 483 (R483H)
Ref Sequence ENSEMBL: ENSMUSP00000147129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085077] [ENSMUST00000208232] [ENSMUST00000209133]
Predicted Effect probably damaging
Transcript: ENSMUST00000085077
AA Change: R494H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: R494H

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: R483H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208564
Predicted Effect probably damaging
Transcript: ENSMUST00000209133
AA Change: R483H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik C T X: 89,752,823 P87L possibly damaging Het
9130011E15Rik T A 19: 45,958,411 N256Y probably damaging Het
9330182L06Rik C A 5: 9,461,399 C920* probably null Het
Abcb11 T A 2: 69,284,682 H640L probably damaging Het
Akr1c19 T A 13: 4,237,113 Y110* probably null Het
Alk T A 17: 71,897,835 E1114V probably damaging Het
Anln A T 9: 22,376,365 D213E probably damaging Het
Ano9 T C 7: 141,108,651 N164S probably benign Het
Arhgef9 G A X: 95,077,504 R266C probably damaging Het
Asxl3 A T 18: 22,523,484 N1517I probably benign Het
Baiap3 C T 17: 25,244,502 probably benign Het
Capn12 T A 7: 28,883,156 V152E probably damaging Het
Casq2 A G 3: 102,144,175 T324A possibly damaging Het
Cmtm7 T C 9: 114,763,389 T47A probably benign Het
Csmd2 A G 4: 128,521,884 S2669G probably benign Het
Dnah1 C T 14: 31,295,293 R1520H probably damaging Het
Dnah8 T C 17: 30,769,697 C3214R probably damaging Het
Fbn1 A T 2: 125,303,256 C2688S possibly damaging Het
Fgf13 A G X: 59,063,669 V201A probably damaging Het
Ghr A T 15: 3,328,102 L228* probably null Het
Gpr22 A G 12: 31,710,007 C39R probably benign Het
Hk1 T C 10: 62,295,755 T274A possibly damaging Het
Il18r1 T A 1: 40,487,007 L238M probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Map3k21 A T 8: 125,927,541 E366D probably benign Het
Mgat4e C T 1: 134,541,158 E383K probably benign Het
Mrc2 G A 11: 105,333,620 probably benign Het
Myh13 T A 11: 67,332,541 L229Q probably damaging Het
Myo15 T A 11: 60,478,127 L571Q probably damaging Het
Ncoa1 T A 12: 4,297,513 M354L probably benign Het
Nomo1 T C 7: 46,046,916 F286S probably damaging Het
Ocstamp A G 2: 165,397,508 F253L probably damaging Het
Olfr1062 A G 2: 86,423,113 S188P probably benign Het
Olfr1331 T G 4: 118,868,886 I34S possibly damaging Het
Osbpl8 T C 10: 111,284,425 probably benign Het
Parp4 T C 14: 56,648,786 L1774P unknown Het
Paxip1 T C 5: 27,759,395 S729G probably benign Het
Phlpp1 T A 1: 106,376,297 probably null Het
Pkd1 G A 17: 24,569,752 G828D possibly damaging Het
Raver1 A G 9: 21,075,971 L670P probably damaging Het
Rhd A G 4: 134,885,310 I291V probably damaging Het
Rorb C T 19: 18,952,253 E377K probably benign Het
Slc1a5 T C 7: 16,793,721 I314T probably benign Het
Synj1 T C 16: 90,961,434 T841A possibly damaging Het
Tenm4 T A 7: 96,873,706 L1448H probably damaging Het
Tmc3 A T 7: 83,622,285 S882C possibly damaging Het
Tmc3 G T 7: 83,622,286 S882I probably benign Het
Tmem168 T C 6: 13,582,918 N271D probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Usp13 A G 3: 32,918,947 I759V possibly damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r115 G T 17: 23,359,283 V577F 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
IGL02331:Arnt2 APN 7 84265624 missense probably damaging 1.00
IGL02483:Arnt2 APN 7 84251397 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
X0066:Arnt2 UTSW 7 84285784 missense possibly damaging 0.93
Posted On2015-12-18