Incidental Mutation 'R5926:Arnt2'
ID 459895
Institutional Source Beutler Lab
Gene Symbol Arnt2
Ensembl Gene ENSMUSG00000015709
Gene Name aryl hydrocarbon receptor nuclear translocator 2
Synonyms bHLHe1
MMRRC Submission 044121-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5926 (G1)
Quality Score 149
Status Not validated
Chromosome 7
Chromosomal Location 83895486-84059201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83993154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 129 (H129N)
Ref Sequence ENSEMBL: ENSMUSP00000146599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085077] [ENSMUST00000207769] [ENSMUST00000208204] [ENSMUST00000208232] [ENSMUST00000208392] [ENSMUST00000209133] [ENSMUST00000208995] [ENSMUST00000208863]
AlphaFold Q61324
Predicted Effect possibly damaging
Transcript: ENSMUST00000085077
AA Change: H140N

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: H140N

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: ENSMUST00000207512
Predicted Effect probably damaging
Transcript: ENSMUST00000207769
AA Change: H136N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000208204
Predicted Effect possibly damaging
Transcript: ENSMUST00000208232
AA Change: H129N

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000208392
Predicted Effect possibly damaging
Transcript: ENSMUST00000209133
AA Change: H129N

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000208995
AA Change: H129N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000208863
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,537,608 (GRCm39) Y701F probably benign Het
Abra T A 15: 41,729,650 (GRCm39) H250L probably damaging Het
Acer2 T C 4: 86,792,805 (GRCm39) V27A probably benign Het
Arhgef15 A G 11: 68,842,781 (GRCm39) L343S possibly damaging Het
Atp9a T A 2: 168,548,191 (GRCm39) Y63F probably damaging Het
Brca2 A G 5: 150,458,087 (GRCm39) T213A probably benign Het
Cdk5r1 T C 11: 80,369,128 (GRCm39) probably null Het
Cyb5r4 C T 9: 86,939,314 (GRCm39) L366F probably benign Het
Cyp20a1 T A 1: 60,402,401 (GRCm39) I162K possibly damaging Het
Dcaf1 T C 9: 106,715,561 (GRCm39) V226A probably benign Het
Ddx41 A T 13: 55,682,112 (GRCm39) M232K probably damaging Het
Dnm1 C T 2: 32,205,816 (GRCm39) V99I probably benign Het
Doc2a T C 7: 126,448,697 (GRCm39) V134A probably damaging Het
Ghdc C T 11: 100,659,063 (GRCm39) V380M possibly damaging Het
Gldn A G 9: 54,245,722 (GRCm39) I424M possibly damaging Het
Haus6 A T 4: 86,517,553 (GRCm39) H270Q probably benign Het
Hfe A T 13: 23,892,247 (GRCm39) M39K probably damaging Het
Jakmip1 C T 5: 37,242,624 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,235 (GRCm39) N187S probably benign Het
Kcnd2 A G 6: 21,217,084 (GRCm39) S263G probably damaging Het
Kcnh1 A G 1: 192,095,385 (GRCm39) N481S probably benign Het
Kcnn2 A G 18: 45,818,351 (GRCm39) I343V probably benign Het
L3hypdh T A 12: 72,123,959 (GRCm39) S300C probably damaging Het
Lrit1 T A 14: 36,776,966 (GRCm39) C29S probably damaging Het
Mark3 T A 12: 111,559,168 (GRCm39) V70E probably damaging Het
Med16 C T 10: 79,738,362 (GRCm39) V319M probably damaging Het
Mindy3 T C 2: 12,352,911 (GRCm39) Y430C probably damaging Het
Mup5 A T 4: 61,751,286 (GRCm39) F121I probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Notch1 A G 2: 26,366,116 (GRCm39) Y813H probably benign Het
Or10a3m T C 7: 108,312,794 (GRCm39) L66S probably damaging Het
Or5p53 T C 7: 107,533,110 (GRCm39) S128P probably damaging Het
Or6b2b A T 1: 92,419,288 (GRCm39) L63Q probably damaging Het
Pi4kb A G 3: 94,906,307 (GRCm39) Y301C probably damaging Het
Ptch1 A G 13: 63,692,869 (GRCm39) S244P probably benign Het
Ptprn G A 1: 75,231,242 (GRCm39) T554I probably damaging Het
Ptprt T C 2: 161,406,606 (GRCm39) I969V probably benign Het
Raf1 T C 6: 115,596,859 (GRCm39) M519V probably benign Het
Ryr1 A G 7: 28,803,785 (GRCm39) V622A probably damaging Het
Spaca4 G T 7: 45,374,719 (GRCm39) H94Q probably benign Het
Spata31 A G 13: 65,068,539 (GRCm39) D229G possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Trpm8 T A 1: 88,258,469 (GRCm39) Y251N probably damaging Het
Vps16 T A 2: 130,285,476 (GRCm39) N806K probably damaging Het
Vwf T C 6: 125,581,137 (GRCm39) F592L probably damaging Het
Other mutations in Arnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Arnt2 APN 7 83,935,037 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- CAGTTTCTCCACGTCATCAGG -3'
(R):5'- GAAATGGCCCACTCACTCTC -3'

Sequencing Primer
(F):5'- GGGTGCACCTGCTCATAAAG -3'
(R):5'- TCTCTCCGAGAAAAGACAGTG -3'
Posted On 2017-02-28