Incidental Mutation 'R1371:Macroh2a2'
ID 157325
Institutional Source Beutler Lab
Gene Symbol Macroh2a2
Ensembl Gene ENSMUSG00000020086
Gene Name macroH2A.2 histone
Synonyms H2afy2
MMRRC Submission 039435-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R1371 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 61574444-61619926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61585112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 177 (D177E)
Ref Sequence ENSEMBL: ENSMUSP00000020283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020283]
AlphaFold Q8CCK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000020283
AA Change: D177E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020283
Gene: ENSMUSG00000020086
AA Change: D177E

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 0.0790 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 89.0%
Validation Efficiency 100% (55/55)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,379 (GRCm39) D884V probably damaging Het
Acvr2a C T 2: 48,789,628 (GRCm39) T457M probably damaging Het
Akr1b10 C T 6: 34,369,394 (GRCm39) T208I probably benign Het
Aldh16a1 G T 7: 44,796,674 (GRCm39) T275K possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asgr1 T G 11: 69,946,923 (GRCm39) C56W probably benign Het
Atp11b T C 3: 35,860,918 (GRCm39) I335T probably damaging Het
BC061237 A G 14: 44,741,762 (GRCm39) probably benign Het
Bdh1 G T 16: 31,275,720 (GRCm39) K280N probably benign Het
Bmp1 C T 14: 70,729,906 (GRCm39) C466Y probably damaging Het
Ccdc181 A G 1: 164,108,172 (GRCm39) E285G probably benign Het
Ces1f C T 8: 94,006,277 (GRCm39) G18R probably damaging Het
Cfap43 T A 19: 47,824,045 (GRCm39) I109L possibly damaging Het
Cma2 T C 14: 56,210,283 (GRCm39) L56S probably damaging Het
Edc4 A G 8: 106,617,382 (GRCm39) probably benign Het
F3 T C 3: 121,526,159 (GRCm39) C241R probably damaging Het
Fhdc1 T A 3: 84,352,310 (GRCm39) S972C probably damaging Het
Heatr1 T G 13: 12,432,513 (GRCm39) I1086R possibly damaging Het
Hsh2d A T 8: 72,950,738 (GRCm39) probably benign Het
Ice1 T C 13: 70,744,340 (GRCm39) Y2081C probably damaging Het
Il1rl1 A G 1: 40,481,873 (GRCm39) N194D probably damaging Het
Ip6k1 G A 9: 107,923,022 (GRCm39) V385M probably damaging Het
Lig1 G A 7: 13,022,611 (GRCm39) R147Q probably damaging Het
Lrp1b C T 2: 40,537,165 (GRCm39) V41I probably damaging Het
Mst1r T A 9: 107,794,424 (GRCm39) V1201E probably damaging Het
Myof T C 19: 37,892,116 (GRCm39) probably benign Het
Nbas G T 12: 13,532,379 (GRCm39) probably benign Het
Ndst1 A G 18: 60,840,719 (GRCm39) I321T possibly damaging Het
Nek10 G A 14: 14,850,983 (GRCm38) G343R probably damaging Het
Or2a7 A T 6: 43,151,234 (GRCm39) T105S probably benign Het
Or2y1 T A 11: 49,385,650 (GRCm39) C97S probably damaging Het
Or4d2b A T 11: 87,780,122 (GRCm39) I200N probably damaging Het
Pde4d T C 13: 109,253,595 (GRCm39) S141P probably benign Het
Pigm A T 1: 172,204,381 (GRCm39) Q39L probably damaging Het
Prl7a2 T A 13: 27,846,750 (GRCm39) I88F probably benign Het
Prss16 T A 13: 22,192,856 (GRCm39) probably benign Het
Psmc4 G A 7: 27,742,222 (GRCm39) probably benign Het
Ptger3 T A 3: 157,273,365 (GRCm39) C237* probably null Het
Recql G A 6: 142,318,601 (GRCm39) T214M probably damaging Het
Rfx7 T A 9: 72,526,857 (GRCm39) V1349D probably damaging Het
Ros1 A G 10: 51,964,041 (GRCm39) S1740P probably damaging Het
Rrm2b A T 15: 37,947,053 (GRCm39) S83T probably benign Het
Sall4 A G 2: 168,598,394 (GRCm39) Y149H probably benign Het
Smad1 A G 8: 80,076,207 (GRCm39) probably benign Het
Snrnp70 T C 7: 45,030,129 (GRCm39) probably benign Het
Spef2 C A 15: 9,725,194 (GRCm39) probably benign Het
Sptlc1 T C 13: 53,505,660 (GRCm39) T253A probably benign Het
Zbbx T C 3: 74,959,784 (GRCm39) Y595C possibly damaging Het
Zfp382 T C 7: 29,833,114 (GRCm39) V255A probably benign 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
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
R6498:Macroh2a2 UTSW 10 61,593,614 (GRCm39) missense probably damaging 0.99
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'- TCCTCTAGGCAGACTTTAGGCTGAC -3'
(R):5'- AGCCACATTCACTGAGAACAGATCG -3'

Sequencing Primer
(F):5'- AGACTTTAGGCTGACCTAACG -3'
(R):5'- TTCACTGAGAACAGATCGTCCAG -3'
Posted On 2014-02-18