Incidental Mutation 'R6279:Bmal2'
ID 507825
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 044449-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R6279 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 146697553-146735027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146723444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 258 (Y258C)
Ref Sequence ENSEMBL: ENSMUSP00000107266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080530] [ENSMUST00000111636] [ENSMUST00000111638] [ENSMUST00000111639] [ENSMUST00000129788]
AlphaFold Q2VPD4
Predicted Effect probably damaging
Transcript: ENSMUST00000080530
AA Change: Y258C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079373
Gene: ENSMUSG00000040187
AA Change: Y258C

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 damaging
Transcript: ENSMUST00000111636
AA Change: Y258C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107263
Gene: ENSMUSG00000040187
AA Change: Y258C

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 damaging
Transcript: ENSMUST00000111638
AA Change: Y258C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107265
Gene: ENSMUSG00000040187
AA Change: Y258C

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 damaging
Transcript: ENSMUST00000111639
AA Change: Y258C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107266
Gene: ENSMUSG00000040187
AA Change: Y258C

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
Meta Mutation Damage Score 0.9553 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,602,840 (GRCm39) K56E probably damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Arid1b C A 17: 5,392,274 (GRCm39) L1935M probably damaging Het
Bag6 T C 17: 35,357,577 (GRCm39) V122A probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Cyp2d22 C A 15: 82,258,169 (GRCm39) K150N probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Faap24 A C 7: 35,095,709 (GRCm39) V12G possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Ggta1 A G 2: 35,298,006 (GRCm39) Y148H probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il12a A T 3: 68,605,312 (GRCm39) I193F probably damaging Het
Il2rb T C 15: 78,365,738 (GRCm39) N520D possibly damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Lrba A G 3: 86,256,171 (GRCm39) D1171G probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Msh6 T C 17: 88,287,677 (GRCm39) W106R probably damaging Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or10w3 A G 19: 13,704,029 (GRCm39) I135V probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or4c105 A T 2: 88,647,719 (GRCm39) D68V probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pde10a T C 17: 9,197,789 (GRCm39) I1026T probably damaging Het
Pde4dip A C 3: 97,606,496 (GRCm39) L2126R probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pkmyt1 C T 17: 23,951,476 (GRCm39) P10L probably benign Het
Pphln1-ps1 T C 16: 13,495,134 (GRCm39) S78P probably damaging Het
Prr5l A T 2: 101,547,765 (GRCm39) Y253* probably null Het
Rdh9 A G 10: 127,612,627 (GRCm39) T92A probably benign Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr1 A T 7: 28,786,853 (GRCm39) M1587K possibly damaging Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Sfrp4 G A 13: 19,808,023 (GRCm39) A141T probably damaging Het
Sh3d19 A T 3: 86,011,409 (GRCm39) I332F possibly damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Slc8a3 T A 12: 81,361,752 (GRCm39) I356F probably damaging Het
Slk A G 19: 47,630,443 (GRCm39) T1205A probably damaging Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Tnpo1 G A 13: 99,027,216 (GRCm39) P25L possibly damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign Het
Tshz1 A T 18: 84,033,436 (GRCm39) V324D probably damaging Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S 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
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
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
Predicted Primers PCR Primer
(F):5'- CAACAGTAAGAGATTTGCAAGTTTC -3'
(R):5'- AATTTCCCGTTCATTGCGAAG -3'

Sequencing Primer
(F):5'- CAGACATAGTGTTATAGGCCTGC -3'
(R):5'- TAGCCACAAGGCAGGTAA -3'
Posted On 2018-03-15