Incidental Mutation 'R4486:Arnt2'
ID 331615
Institutional Source Beutler Lab
Gene Symbol Arnt2
Ensembl Gene ENSMUSG00000015709
Gene Name aryl hydrocarbon receptor nuclear translocator 2
Synonyms bHLHe1
MMRRC Submission 041742-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4486 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 83895486-84059201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83924553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 425 (T425S)
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: T436S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: T436S

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 benign
Transcript: ENSMUST00000208232
AA Change: T425S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208936
Predicted Effect probably benign
Transcript: ENSMUST00000209133
AA Change: T425S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.0768 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 94% (45/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,062,486 (GRCm39) V484A probably damaging Het
Adam22 A T 5: 8,230,227 (GRCm39) probably benign Het
Adamts18 G T 8: 114,439,825 (GRCm39) P923T probably benign Het
Ank3 C T 10: 69,837,804 (GRCm39) T1604I possibly damaging Het
Armc10 A G 5: 21,858,432 (GRCm39) Q159R probably damaging Het
B4galt3 A G 1: 171,099,343 (GRCm39) T36A possibly damaging Het
Bbx A G 16: 50,020,777 (GRCm39) V799A probably damaging Het
Bud23 T C 5: 135,092,779 (GRCm39) probably null Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Cyp4f39 T A 17: 32,702,428 (GRCm39) D308E probably damaging Het
Dnah6 A G 6: 73,015,729 (GRCm39) V3584A probably damaging Het
Ecpas A G 4: 58,820,086 (GRCm39) probably benign Het
Frk T C 10: 34,484,377 (GRCm39) I450T probably benign Het
Grm6 T C 11: 50,750,816 (GRCm39) S660P probably damaging Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hyi G A 4: 118,219,674 (GRCm39) G237D probably damaging Het
Jrkl T C 9: 13,245,376 (GRCm39) N95S probably benign Het
Kifbp A G 10: 62,398,806 (GRCm39) probably benign Het
Nanog T C 6: 122,689,676 (GRCm39) probably null Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Or6c76b T C 10: 129,692,567 (GRCm39) F60S probably damaging Het
Pcdha3 T C 18: 37,080,404 (GRCm39) V382A probably damaging Het
Pla2g4c T A 7: 13,071,676 (GRCm39) N165K probably benign Het
Rexo5 T C 7: 119,424,800 (GRCm39) I362T probably benign Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Rpusd2 T C 2: 118,865,705 (GRCm39) V134A probably damaging Het
Serpina1c T A 12: 103,863,259 (GRCm39) probably null Het
Slc6a19 A T 13: 73,829,836 (GRCm39) I606N probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Tas2r143 A G 6: 42,377,628 (GRCm39) M153V probably benign Het
Thrb G T 14: 17,925,640 (GRCm38) M1I probably null Het
Trbc2 A G 6: 41,523,814 (GRCm39) probably benign Het
Trim37 T A 11: 87,087,651 (GRCm39) S587R probably benign Het
Ulbp1 T A 10: 7,397,397 (GRCm39) H151L probably benign Het
Vmn2r54 A T 7: 12,366,199 (GRCm39) L245* probably null Het
Vmn2r78 A C 7: 86,569,959 (GRCm39) probably null Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null Het
Xrcc4 A C 13: 90,140,707 (GRCm39) S167R possibly damaging Het
Zfp994 C T 17: 22,420,541 (GRCm39) C136Y 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
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
Predicted Primers PCR Primer
(F):5'- ATGGAAGGGATGCACACCAC -3'
(R):5'- GTATGAGCCTAGCTGCTACC -3'

Sequencing Primer
(F):5'- CAGTAAAGGAAACCCAGAGTCTC -3'
(R):5'- AGCAGCACCCCATTCTGTG -3'
Posted On 2015-07-21