Incidental Mutation 'IGL02141:Bmal2'
ID 281573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmal2
Ensembl Gene ENSMUSG00000040187
Gene Name basic helix-loop-helix ARNT like 2
Synonyms bHLHe6, MOP9, 4632430A05Rik, Arntl2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # IGL02141
Quality Score
Status
Chromosome 6
Chromosomal Location 146697553-146735027 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 146729593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080530] [ENSMUST00000111636] [ENSMUST00000111638] [ENSMUST00000111639] [ENSMUST00000129788]
AlphaFold Q2VPD4
Predicted Effect probably benign
Transcript: ENSMUST00000080530
SMART Domains Protein: ENSMUSP00000079373
Gene: ENSMUSG00000040187

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
Predicted Effect probably benign
Transcript: ENSMUST00000111636
SMART Domains Protein: ENSMUSP00000107263
Gene: ENSMUSG00000040187

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
Predicted Effect probably benign
Transcript: ENSMUST00000111638
SMART Domains Protein: ENSMUSP00000107265
Gene: ENSMUSG00000040187

DomainStartEndE-ValueType
HLH 54 107 6.51e-14 SMART
PAS 122 189 6.2e-7 SMART
PAS 298 364 1.29e-4 SMART
PAC 361 404 3.66e0 SMART
low complexity region 417 428 N/A INTRINSIC
low complexity region 462 473 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111639
SMART Domains Protein: ENSMUSP00000107266
Gene: ENSMUSG00000040187

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
Predicted Effect probably benign
Transcript: ENSMUST00000129788
SMART Domains Protein: ENSMUSP00000121170
Gene: ENSMUSG00000040187

DomainStartEndE-ValueType
HLH 54 107 6.51e-14 SMART
PAS 122 189 6.2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204578
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging 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
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
R7481:Bmal2 UTSW 6 146,720,369 (GRCm39) missense not run
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
Posted On 2015-04-16