Incidental Mutation 'R2414:H2bc21'
ID 250090
Institutional Source Beutler Lab
Gene Symbol H2bc21
Ensembl Gene ENSMUSG00000068854
Gene Name H2B clustered histone 21
Synonyms Hist2h2be
MMRRC Submission 040378-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R2414 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96128435-96131054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96128750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 90 (I90N)
Ref Sequence ENSEMBL: ENSMUSP00000088287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073115] [ENSMUST00000090781] [ENSMUST00000090782] [ENSMUST00000177442]
AlphaFold Q64524
Predicted Effect probably benign
Transcript: ENSMUST00000073115
SMART Domains Protein: ENSMUSP00000072858
Gene: ENSMUSG00000063689

DomainStartEndE-ValueType
H2A 3 123 8.91e-83 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000090781
AA Change: I90N

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088287
Gene: ENSMUSG00000068854
AA Change: I90N

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
H2B 28 124 1.14e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090782
SMART Domains Protein: ENSMUSP00000088288
Gene: ENSMUSG00000068855

DomainStartEndE-ValueType
H2A 3 123 1.1e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148335
Predicted Effect probably benign
Transcript: ENSMUST00000177442
SMART Domains Protein: ENSMUSP00000134765
Gene: ENSMUSG00000015943

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:BolA 40 113 7.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197012
Meta Mutation Damage Score 0.8527 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family, and generates two transcripts through the use of a putative stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired olfactory function and an increased lifespan of mature olfactory sensory neurons associated with decreased neuron apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 C A 9: 121,738,040 (GRCm39) S138R probably damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Arfgef2 A G 2: 166,687,424 (GRCm39) E216G probably benign Het
Aspscr1 T C 11: 120,580,048 (GRCm39) S196P probably benign Het
AU040320 A T 4: 126,762,484 (GRCm39) probably null Het
BC002059 T C 17: 17,193,932 (GRCm39) noncoding transcript Het
Cep112 A G 11: 108,643,408 (GRCm39) N799S possibly damaging Het
Cilp A G 9: 65,181,927 (GRCm39) probably benign Het
Cpn2 T C 16: 30,079,392 (GRCm39) E103G probably benign Het
Cpt1b G A 15: 89,304,283 (GRCm39) probably benign Het
Epor T A 9: 21,870,785 (GRCm39) D365V probably damaging Het
Hip1r T C 5: 124,139,306 (GRCm39) Y900H probably damaging Het
Hoxc9 A T 15: 102,892,540 (GRCm39) N251I probably damaging Het
Hpd C T 5: 123,315,587 (GRCm39) probably null Het
Lrrc34 T A 3: 30,688,711 (GRCm39) I197L probably benign Het
Msi2 A G 11: 88,607,373 (GRCm39) V78A probably damaging Het
Myh4 A G 11: 67,141,594 (GRCm39) I818V probably benign Het
Nol4 T C 18: 22,956,629 (GRCm39) probably null Het
Plekha5 A G 6: 140,496,582 (GRCm39) N362S probably damaging Het
Polr1b A G 2: 128,945,054 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,289,831 (GRCm39) probably null Het
Sgsm3 A G 15: 80,890,946 (GRCm39) N136D probably benign Het
Slco1a5 A G 6: 142,181,976 (GRCm39) C583R probably damaging Het
Surf1 A G 2: 26,806,295 (GRCm39) W13R probably damaging Het
Tesk2 T C 4: 116,658,954 (GRCm39) W276R possibly damaging Het
Tmem8b A G 4: 43,673,892 (GRCm39) probably benign Het
Togaram2 T G 17: 72,023,304 (GRCm39) probably benign Het
Ttll11 A G 2: 35,869,546 (GRCm39) S31P unknown Het
Ttll8 A G 15: 88,820,336 (GRCm39) probably benign Het
Tub A G 7: 108,626,240 (GRCm39) K259E probably damaging Het
Ube2o T C 11: 116,439,683 (GRCm39) I162M probably benign Het
Vamp8 C T 6: 72,365,326 (GRCm39) M1I probably null Het
Zfp503 C A 14: 22,036,032 (GRCm39) G295* probably null Het
Other mutations in H2bc21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02503:H2bc21 APN 3 96,128,539 (GRCm39) missense probably benign 0.00
IGL02941:H2bc21 APN 3 96,128,732 (GRCm39) missense possibly damaging 0.70
R0648:H2bc21 UTSW 3 96,128,851 (GRCm39) missense probably benign
R5783:H2bc21 UTSW 3 96,128,615 (GRCm39) missense possibly damaging 0.86
R7002:H2bc21 UTSW 3 96,128,689 (GRCm39) missense probably benign 0.00
R7782:H2bc21 UTSW 3 96,128,487 (GRCm39) splice site probably null
R9173:H2bc21 UTSW 3 96,128,615 (GRCm39) missense possibly damaging 0.86
R9318:H2bc21 UTSW 3 96,128,681 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTGTCACCAAGGCGCAAAAG -3'
(R):5'- GATTTGAGCGGGTGACTCAC -3'

Sequencing Primer
(F):5'- TCACCAAGGCGCAAAAGAAAGATG -3'
(R):5'- TTTGAGCGGGTGACTCACTAAAAG -3'
Posted On 2014-11-12