Incidental Mutation 'R4258:Arnt2'
ID 321903
Institutional Source Beutler Lab
Gene Symbol Arnt2
Ensembl Gene ENSMUSG00000015709
Gene Name aryl hydrocarbon receptor nuclear translocator 2
Synonyms bHLHe1
MMRRC Submission 041071-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4258 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 83895486-84059201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83960163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 204 (T204A)
Ref Sequence ENSEMBL: ENSMUSP00000146599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085077] [ENSMUST00000208204] [ENSMUST00000208232] [ENSMUST00000208995] [ENSMUST00000209133]
AlphaFold Q61324
Predicted Effect probably benign
Transcript: ENSMUST00000085077
AA Change: T215A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000082154
Gene: ENSMUSG00000015709
AA Change: T215A

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: ENSMUST00000207759
Predicted Effect unknown
Transcript: ENSMUST00000208129
AA Change: T8A
Predicted Effect probably benign
Transcript: ENSMUST00000208204
Predicted Effect probably benign
Transcript: ENSMUST00000208232
AA Change: T204A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably damaging
Transcript: ENSMUST00000208995
AA Change: T204A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000209133
AA Change: T204A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.6514 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (60/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik T A 17: 54,031,441 (GRCm39) noncoding transcript Het
Ank3 T C 10: 69,840,592 (GRCm39) I984T probably benign Het
Arsi T C 18: 61,050,388 (GRCm39) W424R probably damaging Het
Aspg A T 12: 112,087,687 (GRCm39) N346I probably benign Het
Brdt A G 5: 107,507,775 (GRCm39) S668G probably damaging Het
Ccdc178 C T 18: 22,150,392 (GRCm39) probably null Het
Cfap58 A T 19: 47,937,923 (GRCm39) probably null Het
Chaf1a C A 17: 56,363,474 (GRCm39) H319Q unknown Het
Colec12 T C 18: 9,720,950 (GRCm39) S13P probably damaging Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cyp2c65 A C 19: 39,081,872 (GRCm39) D466A probably benign Het
Cyp3a25 T C 5: 145,928,248 (GRCm39) K266E probably damaging Het
Dennd1b G T 1: 138,990,678 (GRCm39) R214L probably damaging Het
Dock9 T C 14: 121,818,854 (GRCm39) I1533V probably benign Het
Dynlt1a C T 17: 6,361,184 (GRCm39) M102I probably benign Het
Edil3 G T 13: 89,325,272 (GRCm39) L220F probably damaging Het
Eml5 A G 12: 98,831,693 (GRCm39) Y383H probably benign Het
Epc1 T A 18: 6,450,130 (GRCm39) T393S probably benign Het
Fbxo8 A T 8: 57,041,076 (GRCm39) D164V probably benign Het
Gbp4 T A 5: 105,284,841 (GRCm39) N16I probably damaging Het
Gdf6 G A 4: 9,844,877 (GRCm39) V134I probably damaging Het
Gm5475 A G 15: 100,322,117 (GRCm39) probably benign Het
Gm6430 T G 1: 96,952,561 (GRCm39) noncoding transcript Het
Ighv9-4 A T 12: 114,263,765 (GRCm39) V56E probably damaging Het
Il3ra A T 14: 14,347,961 (GRCm38) N36Y probably damaging Het
Kif7 G T 7: 79,360,261 (GRCm39) C325* probably null Het
Lipo2 A T 19: 33,708,328 (GRCm39) F229I possibly damaging Het
Lrba A G 3: 86,352,656 (GRCm39) K1935E probably damaging Het
Mki67 A T 7: 135,297,017 (GRCm39) D2672E possibly damaging Het
Mtf1 A G 4: 124,732,576 (GRCm39) T545A probably benign Het
Mup6 A T 4: 60,004,812 (GRCm39) probably null Het
Myo9b T C 8: 71,808,409 (GRCm39) V1672A probably damaging Het
Nudt16l2 T C 9: 105,020,767 (GRCm39) I165V probably damaging Het
Or10al6 C A 17: 38,082,949 (GRCm39) P135Q probably damaging Het
Or10j5 C T 1: 172,785,205 (GRCm39) T281I possibly damaging Het
Or4k36 A T 2: 111,145,983 (GRCm39) H53L probably benign Het
Or5d37 T A 2: 87,923,362 (GRCm39) N306I probably damaging Het
Pcdhgb2 A T 18: 37,825,102 (GRCm39) I698F probably damaging Het
Pkn3 C T 2: 29,978,572 (GRCm39) H665Y probably damaging Het
Ppil6 T A 10: 41,383,531 (GRCm39) L99* probably null Het
Psg22 T A 7: 18,458,554 (GRCm39) V376E probably damaging Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Rasa2 A T 9: 96,439,433 (GRCm39) probably benign Het
Schip1 T A 3: 68,525,963 (GRCm39) M379K possibly damaging Het
Scn9a A T 2: 66,395,398 (GRCm39) probably benign Het
Sh3tc1 C T 5: 35,864,322 (GRCm39) A622T probably benign Het
Smarcd2 A T 11: 106,156,076 (GRCm39) I292N probably damaging Het
Ssxb17 C T X: 21,041,167 (GRCm39) S45N probably damaging Het
Stab1 G A 14: 30,876,629 (GRCm39) R862C possibly damaging Het
Tdrd5 T A 1: 156,087,312 (GRCm39) H870L probably benign Het
Tnfaip8 A G 18: 50,223,443 (GRCm39) R60G possibly damaging Het
Traf3ip3 C T 1: 192,880,254 (GRCm39) R25Q probably damaging Het
Unc5b T C 10: 60,601,150 (GRCm39) Y892C probably damaging Het
Vmn2r2 T G 3: 64,042,118 (GRCm39) D199A probably damaging Het
Washc2 C A 6: 116,185,202 (GRCm39) P12Q probably damaging Het
Zfp286 T C 11: 62,671,896 (GRCm39) I121V probably benign Het
Zfp606 T A 7: 12,228,267 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACGCTGGATCAAGTACTGGG -3'
(R):5'- GCTGACAAGTAGAGATTGCACTGAG -3'

Sequencing Primer
(F):5'- GGTATACTTCTTGTCTGAAGAGCACC -3'
(R):5'- GTGAACCGTATGGATTCCATTTC -3'
Posted On 2015-06-20