Incidental Mutation 'R7481:Bmal2'
ID 579800
Institutional Source Beutler Lab
Gene Symbol Bmal2
Ensembl Gene ENSMUSG00000040187
Gene Name basic helix-loop-helix ARNT like 2
Synonyms bHLHe6, MOP9, 4632430A05Rik, Arntl2
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 146697553-146735027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 146720369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 178 (A178T)
Ref Sequence ENSEMBL: ENSMUSP00000079373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080530]
AlphaFold Q2VPD4
Predicted Effect not run
Transcript: ENSMUST00000080530
AA Change: A178T
SMART Domains Protein: ENSMUSP00000079373
Gene: ENSMUSG00000040187
AA Change: A178T

DomainStartEndE-ValueType
HLH 54 107 6.51e-14 SMART
PAS 122 189 6.2e-7 SMART
PAS 298 364 2.7e-7 SMART
PAC 371 414 1.72e0 SMART
low complexity region 427 438 N/A INTRINSIC
low complexity region 472 483 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (Per, Arnt, Sim) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian Clock protein, the structurally related Mop4, and hypoxia-inducible factors, such as Hif1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N probably benign Het
Other mutations in Bmal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Bmal2 APN 6 146,728,827 (GRCm39) splice site probably benign
IGL00481:Bmal2 APN 6 146,711,164 (GRCm39) missense probably benign 0.11
IGL02141:Bmal2 APN 6 146,729,593 (GRCm39) splice site probably benign
IGL02402:Bmal2 APN 6 146,711,266 (GRCm39) missense possibly damaging 0.90
R0054:Bmal2 UTSW 6 146,731,216 (GRCm39) missense probably benign 0.01
R0054:Bmal2 UTSW 6 146,731,216 (GRCm39) missense probably benign 0.01
R0131:Bmal2 UTSW 6 146,729,601 (GRCm39) missense probably benign 0.00
R0403:Bmal2 UTSW 6 146,724,153 (GRCm39) missense probably damaging 1.00
R0716:Bmal2 UTSW 6 146,731,218 (GRCm39) missense possibly damaging 0.82
R0799:Bmal2 UTSW 6 146,724,751 (GRCm39) splice site probably benign
R0834:Bmal2 UTSW 6 146,724,185 (GRCm39) missense probably damaging 1.00
R1909:Bmal2 UTSW 6 146,712,308 (GRCm39) missense probably benign 0.01
R2270:Bmal2 UTSW 6 146,723,612 (GRCm39) missense probably damaging 1.00
R2272:Bmal2 UTSW 6 146,723,612 (GRCm39) missense probably damaging 1.00
R3715:Bmal2 UTSW 6 146,724,187 (GRCm39) missense probably damaging 0.97
R4370:Bmal2 UTSW 6 146,711,149 (GRCm39) missense probably damaging 1.00
R5399:Bmal2 UTSW 6 146,724,159 (GRCm39) missense probably damaging 0.99
R5894:Bmal2 UTSW 6 146,724,732 (GRCm39) missense possibly damaging 0.93
R5972:Bmal2 UTSW 6 146,711,187 (GRCm39) missense probably damaging 0.99
R6090:Bmal2 UTSW 6 146,731,194 (GRCm39) missense possibly damaging 0.90
R6111:Bmal2 UTSW 6 146,722,097 (GRCm39) missense probably benign 0.16
R6279:Bmal2 UTSW 6 146,723,444 (GRCm39) missense probably damaging 1.00
R6300:Bmal2 UTSW 6 146,723,444 (GRCm39) missense probably damaging 1.00
R6452:Bmal2 UTSW 6 146,724,705 (GRCm39) missense probably benign 0.00
R6722:Bmal2 UTSW 6 146,720,398 (GRCm39) missense probably damaging 0.99
R7296:Bmal2 UTSW 6 146,723,632 (GRCm39) missense not run
R7335:Bmal2 UTSW 6 146,711,217 (GRCm39) missense probably benign 0.01
R7655:Bmal2 UTSW 6 146,707,940 (GRCm39) missense probably benign 0.31
R7656:Bmal2 UTSW 6 146,707,940 (GRCm39) missense probably benign 0.31
R7951:Bmal2 UTSW 6 146,714,732 (GRCm39) missense probably damaging 1.00
R8015:Bmal2 UTSW 6 146,722,088 (GRCm39) missense probably damaging 1.00
R8876:Bmal2 UTSW 6 146,723,492 (GRCm39) missense probably benign 0.00
R8959:Bmal2 UTSW 6 146,722,142 (GRCm39) missense probably benign 0.00
R9794:Bmal2 UTSW 6 146,734,033 (GRCm39) missense probably benign 0.04
Predicted Primers
Posted On 2019-10-07