Incidental Mutation 'R6498:Macroh2a2'
ID 523111
Institutional Source Beutler Lab
Gene Symbol Macroh2a2
Ensembl Gene ENSMUSG00000020086
Gene Name macroH2A.2 histone
Synonyms H2afy2
MMRRC Submission 044630-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.584) question?
Stock # R6498 (G1)
Quality Score 159.009
Status Validated
Chromosome 10
Chromosomal Location 61574444-61619926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 61593614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 21 (V21F)
Ref Sequence ENSEMBL: ENSMUSP00000020283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020283]
AlphaFold Q8CCK0
Predicted Effect probably damaging
Transcript: ENSMUST00000020283
AA Change: V21F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020283
Gene: ENSMUSG00000020086
AA Change: V21F

DomainStartEndE-ValueType
H2A 3 120 5.3e-67 SMART
low complexity region 134 151 N/A INTRINSIC
low complexity region 157 167 N/A INTRINSIC
Pfam:Macro 216 330 1.8e-28 PFAM
low complexity region 339 345 N/A INTRINSIC
Meta Mutation Damage Score 0.3557 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.9%
  • 20x: 89.8%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any developmental or reproductive abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,182,928 (GRCm39) N1043T possibly damaging Het
Actn2 C T 13: 12,291,359 (GRCm39) E682K probably damaging Het
Agtpbp1 A G 13: 59,624,854 (GRCm39) V833A possibly damaging Het
Arrb2 G T 11: 70,330,375 (GRCm39) R333L probably benign Het
Atp9b C T 18: 80,820,230 (GRCm39) S135N probably benign Het
Cep112 T A 11: 108,331,357 (GRCm39) S135R probably benign Het
D630045J12Rik G A 6: 38,124,132 (GRCm39) R1607* probably null Het
Duox1 A T 2: 122,150,088 (GRCm39) S160C probably damaging Het
Eogt A T 6: 97,112,174 (GRCm39) Y160N probably damaging Het
Exosc10 T C 4: 148,657,795 (GRCm39) V647A probably benign Het
Fbxo44 C T 4: 148,238,882 (GRCm39) Het
Fen1 G T 19: 10,177,479 (GRCm39) R322S probably damaging Het
Gls A C 1: 52,259,198 (GRCm39) N134K probably benign Het
Hspg2 T C 4: 137,235,112 (GRCm39) V82A possibly damaging Het
Il33 G A 19: 29,927,137 (GRCm39) E23K probably benign Het
Map2k5 C A 9: 63,193,683 (GRCm39) A266S possibly damaging Het
Or13g1 T C 7: 85,956,226 (GRCm39) I32V probably benign Het
Or2t29 T A 11: 58,433,408 (GRCm39) N298I probably damaging Het
Or5p61 C T 7: 107,758,639 (GRCm39) C147Y probably benign Het
Pcdh1 G A 18: 38,330,490 (GRCm39) P838S probably benign Het
Pcdha5 A G 18: 37,095,768 (GRCm39) E759G possibly damaging Het
Pclo T C 5: 14,719,505 (GRCm39) I1214T unknown Het
Per3 T C 4: 151,113,662 (GRCm39) I299V probably benign Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Synpo2 A T 3: 122,873,881 (GRCm39) probably null Het
Sys1 G A 2: 164,306,438 (GRCm39) A131T probably benign Het
Tekt2 A G 4: 126,218,098 (GRCm39) L138P probably benign Het
Tmprss12 T A 15: 100,183,133 (GRCm39) N158K probably damaging Het
Tnrc18 A T 5: 142,717,923 (GRCm39) M2177K unknown Het
Trim43a T A 9: 88,464,395 (GRCm39) I102N probably damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Utrn C T 10: 12,317,837 (GRCm39) C498Y probably benign Het
Vmn1r39 A T 6: 66,781,841 (GRCm39) V159D probably damaging Het
Vmn1r44 A G 6: 89,870,562 (GRCm39) T103A probably benign Het
Wsb1 A T 11: 79,139,315 (GRCm39) V127D probably damaging Het
Zfp268 T A 4: 145,349,459 (GRCm39) C299S probably damaging Het
Other mutations in Macroh2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:Macroh2a2 APN 10 61,593,550 (GRCm39) missense probably damaging 0.96
lown UTSW 10 61,593,614 (GRCm39) missense probably damaging 0.99
R0551:Macroh2a2 UTSW 10 61,576,945 (GRCm39) missense probably damaging 0.99
R1371:Macroh2a2 UTSW 10 61,585,112 (GRCm39) missense possibly damaging 0.70
R4830:Macroh2a2 UTSW 10 61,575,132 (GRCm39) missense possibly damaging 0.95
R5394:Macroh2a2 UTSW 10 61,587,466 (GRCm39) missense possibly damaging 0.89
R5541:Macroh2a2 UTSW 10 61,583,496 (GRCm39) missense probably benign 0.20
R6029:Macroh2a2 UTSW 10 61,583,541 (GRCm39) missense possibly damaging 0.75
R6735:Macroh2a2 UTSW 10 61,577,046 (GRCm39) missense probably damaging 0.98
R7139:Macroh2a2 UTSW 10 61,593,674 (GRCm39) start codon destroyed unknown
R8753:Macroh2a2 UTSW 10 61,585,113 (GRCm39) missense possibly damaging 0.85
R8955:Macroh2a2 UTSW 10 61,593,610 (GRCm39) missense probably damaging 0.98
Z1177:Macroh2a2 UTSW 10 61,575,129 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGGGAATTGGGAGATTCAC -3'
(R):5'- AGCCAGAAATGTCACAATGTGTC -3'

Sequencing Primer
(F):5'- TTGGGAGATTCACAGCAGCCTG -3'
(R):5'- TGTGTCCTAAAGCCACACTGATG -3'
Posted On 2018-06-06