Incidental Mutation 'R7303:Hmgb2'
ID 567109
Institutional Source Beutler Lab
Gene Symbol Hmgb2
Ensembl Gene ENSMUSG00000054717
Gene Name high mobility group box 2
Synonyms HMG-2, Hmg2
MMRRC Submission 045364-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7303 (G1)
Quality Score 85.0076
Status Not validated
Chromosome 8
Chromosomal Location 57964941-57969033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57965762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 44 (K44E)
Ref Sequence ENSEMBL: ENSMUSP00000065940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067925] [ENSMUST00000210871]
AlphaFold P30681
Predicted Effect possibly damaging
Transcript: ENSMUST00000067925
AA Change: K44E

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065940
Gene: ENSMUSG00000054717
AA Change: K44E

DomainStartEndE-ValueType
HMG 8 80 6.43e-25 SMART
HMG 94 164 7.04e-31 SMART
coiled coil region 186 210 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000210871
AA Change: K44E

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for disruptions in this gene display reduced fertility. Female fertility is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T G 17: 24,617,495 (GRCm39) L1064R possibly damaging Het
Abca7 A T 10: 79,850,822 (GRCm39) D2051V probably benign Het
Abcb5 T A 12: 118,875,295 (GRCm39) I626F probably damaging Het
Abcg5 A G 17: 84,977,774 (GRCm39) S333P probably damaging Het
Abl2 T C 1: 156,468,820 (GRCm39) S695P probably benign Het
Aen C T 7: 78,552,204 (GRCm39) P55S possibly damaging Het
Afg3l1 G T 8: 124,228,008 (GRCm39) A598S probably damaging Het
Aldh16a1 A T 7: 44,797,328 (GRCm39) L160Q probably damaging Het
Ang A T 14: 51,338,973 (GRCm39) H38L probably benign Het
Ankar A T 1: 72,698,192 (GRCm39) I954N probably benign Het
Aox1 A T 1: 58,373,924 (GRCm39) K862* probably null Het
Brme1 G C 8: 84,887,862 (GRCm39) G71A probably benign Het
Cad T C 5: 31,217,557 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,438 (GRCm39) Y740F unknown Het
Ccdc182 T C 11: 88,185,042 (GRCm39) Y41H probably benign Het
Chd9 A G 8: 91,778,532 (GRCm39) R2848G unknown Het
Chrna6 A T 8: 27,897,019 (GRCm39) L286* probably null Het
Cimap1d G A 10: 79,478,525 (GRCm39) P80S probably benign Het
Cracr2b A G 7: 141,043,115 (GRCm39) probably benign Het
Fam184b C T 5: 45,699,568 (GRCm39) probably null Het
Flnc T C 6: 29,460,849 (GRCm39) S2647P probably benign Het
Ftsj3 T C 11: 106,145,506 (GRCm39) D76G probably damaging Het
Fxyd1 T A 7: 30,753,743 (GRCm39) M17L probably benign Het
Golim4 G A 3: 75,785,360 (GRCm39) S677L probably damaging Het
Gpr149 A G 3: 62,502,491 (GRCm39) V455A possibly damaging Het
H2-Q1 C A 17: 35,540,312 (GRCm39) S132R probably benign Het
H2-Q7 A G 17: 35,659,037 (GRCm39) I163V probably benign Het
Herc1 A T 9: 66,358,098 (GRCm39) D2393V possibly damaging Het
Itgad A G 7: 127,789,351 (GRCm39) D605G probably benign Het
Kbtbd12 G T 6: 88,591,094 (GRCm39) F16L unknown Het
Klhl23 T C 2: 69,655,045 (GRCm39) I305T probably benign Het
Lrguk A T 6: 34,006,411 (GRCm39) N7I probably benign Het
Lrp5 A G 19: 3,641,774 (GRCm39) L1396P probably damaging Het
Mapkapk5 T C 5: 121,678,637 (GRCm39) E13G probably benign Het
Mark3 T C 12: 111,621,970 (GRCm39) V704A probably damaging Het
Mast2 A G 4: 116,165,508 (GRCm39) S1303P possibly damaging Het
Mcm2 T C 6: 88,864,928 (GRCm39) D516G probably damaging Het
Mon2 A T 10: 122,874,364 (GRCm39) probably null Het
Mrc2 T A 11: 105,216,629 (GRCm39) N139K probably damaging Het
Myh14 C T 7: 44,261,125 (GRCm39) E1789K probably damaging Het
Myh7b T A 2: 155,460,660 (GRCm39) L271Q probably damaging Het
Oog2 A T 4: 143,921,912 (GRCm39) H274L probably benign Het
Oosp1 A C 19: 11,645,774 (GRCm39) S121R probably benign Het
Or13a28 T C 7: 140,218,267 (GRCm39) S218P probably damaging Het
Or8k3b A G 2: 86,521,166 (GRCm39) V51A probably benign Het
Pepd T C 7: 34,721,197 (GRCm39) probably null Het
Pik3c2a A C 7: 116,005,178 (GRCm39) S363R probably benign Het
Polr2b T C 5: 77,468,868 (GRCm39) Y215H probably benign Het
Ppcdc A T 9: 57,321,958 (GRCm39) V194E probably benign Het
Rabgap1l A C 1: 160,509,667 (GRCm39) I470S probably benign Het
Scgb1b3 G A 7: 31,075,383 (GRCm39) A78T probably benign Het
Slc9a5 T A 8: 106,083,345 (GRCm39) L368Q probably damaging Het
Spef2 T A 15: 9,647,576 (GRCm39) I944F possibly damaging Het
Syne1 T A 10: 5,206,805 (GRCm39) H3461L probably benign Het
Tas2r134 A G 2: 51,518,145 (GRCm39) Y208C probably benign Het
Tasor A G 14: 27,193,809 (GRCm39) E1003G probably damaging Het
Tm9sf3 G A 19: 41,227,198 (GRCm39) S291F probably damaging Het
Tra2a G A 6: 49,227,921 (GRCm39) T69I unknown Het
Ube2q1 T A 3: 89,683,898 (GRCm39) L171Q possibly damaging Het
Ufd1 A G 16: 18,636,715 (GRCm39) T78A probably damaging Het
Vmn1r13 T C 6: 57,187,587 (GRCm39) S249P probably damaging Het
Wdr91 G A 6: 34,861,258 (GRCm39) S648L probably benign Het
Zfp51 T A 17: 21,684,058 (GRCm39) N224K probably benign Het
Other mutations in Hmgb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3842:Hmgb2 UTSW 8 57,966,388 (GRCm39) missense probably benign 0.09
R4792:Hmgb2 UTSW 8 57,966,344 (GRCm39) missense probably damaging 0.97
R7971:Hmgb2 UTSW 8 57,966,168 (GRCm39) missense possibly damaging 0.83
R9278:Hmgb2 UTSW 8 57,965,786 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- TTTCTCCTCGGCAGGTAGAC -3'
(R):5'- CCTAGCTGTCCGAGTAATAAAGAAAG -3'

Sequencing Primer
(F):5'- CTCGGCAGGTAGACAGACG -3'
(R):5'- AAAAGCAGCCCGGAAACGGCCTGCA -3'
Posted On 2019-06-26