Incidental Mutation 'R3842:Hmgb2'
ID 277207
Institutional Source Beutler Lab
Gene Symbol Hmgb2
Ensembl Gene ENSMUSG00000054717
Gene Name high mobility group box 2
Synonyms HMG-2, Hmg2
MMRRC Submission 040782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3842 (G1)
Quality Score 191
Status Validated
Chromosome 8
Chromosomal Location 57964941-57969033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57966388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 121 (S121T)
Ref Sequence ENSEMBL: ENSMUSP00000065940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067925] [ENSMUST00000210871]
AlphaFold P30681
Predicted Effect probably benign
Transcript: ENSMUST00000067925
AA Change: S121T

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000065940
Gene: ENSMUSG00000054717
AA Change: S121T

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 noncoding transcript
Transcript: ENSMUST00000180690
Predicted Effect probably benign
Transcript: ENSMUST00000210871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211198
Meta Mutation Damage Score 0.1435 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (37/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 C T 14: 8,251,543 (GRCm38) R318H probably damaging Het
Adamts16 T C 13: 70,887,010 (GRCm39) Y958C possibly damaging Het
Apol7e A G 15: 77,601,789 (GRCm39) E129G probably damaging Het
Bmp2k A G 5: 97,235,010 (GRCm39) probably benign Het
Camk2g T C 14: 20,814,966 (GRCm39) H26R probably damaging Het
Cpn2 A G 16: 30,079,336 (GRCm39) S122P probably damaging Het
Dhcr24 G T 4: 106,443,002 (GRCm39) G346C probably damaging Het
Egf G A 3: 129,491,442 (GRCm39) R351* probably null Het
Exosc10 T A 4: 148,648,322 (GRCm39) Y260* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam83h C T 15: 75,874,499 (GRCm39) R946K probably benign Het
Fbxo30 A G 10: 11,165,856 (GRCm39) S193G probably damaging Het
Grik3 T C 4: 125,587,747 (GRCm39) probably benign Het
Gtf3c6 A T 10: 40,130,317 (GRCm39) probably null Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Hyal2 T C 9: 107,449,320 (GRCm39) S359P probably damaging Het
Itgbl1 A G 14: 124,077,977 (GRCm39) T156A possibly damaging Het
Lrrk2 C A 15: 91,640,119 (GRCm39) Q1555K probably benign Het
Myom1 T C 17: 71,352,619 (GRCm39) V349A probably damaging Het
Naa40 A T 19: 7,207,174 (GRCm39) probably benign Het
Ncam2 A G 16: 81,231,698 (GRCm39) Y54C probably damaging Het
Nemf C T 12: 69,378,723 (GRCm39) S533N probably damaging Het
Nkain1 T A 4: 130,537,296 (GRCm38) I80F probably damaging Het
Or10ak12 A G 4: 118,666,452 (GRCm39) V203A probably damaging Het
Or2ag13 G A 7: 106,473,302 (GRCm39) T50I probably benign Het
Or9k2 G A 10: 129,998,770 (GRCm39) R142C probably benign Het
Pde3b T C 7: 114,126,102 (GRCm39) S779P probably damaging Het
Prkar2a A G 9: 108,605,467 (GRCm39) Y175C probably damaging Het
Slc44a5 T C 3: 153,967,031 (GRCm39) probably benign Het
Smgc T A 15: 91,744,460 (GRCm39) probably benign Het
Tasp1 T A 2: 139,793,421 (GRCm39) S252C probably damaging Het
Tgfbrap1 A T 1: 43,098,314 (GRCm39) Y489N probably damaging Het
Topors C T 4: 40,262,123 (GRCm39) R387H probably benign Het
Ttn A G 2: 76,619,963 (GRCm39) S15902P probably damaging Het
Ttn T C 2: 76,680,647 (GRCm39) probably null Het
Other mutations in Hmgb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4792:Hmgb2 UTSW 8 57,966,344 (GRCm39) missense probably damaging 0.97
R7303:Hmgb2 UTSW 8 57,965,762 (GRCm39) missense possibly damaging 0.89
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'- GGGAGATGAAGAACTATGTTCCTCC -3'
(R):5'- TCCCAAGTTCCTACAGCTGAC -3'

Sequencing Primer
(F):5'- GAACTATGTTCCTCCCAAAGGGG -3'
(R):5'- CAAGTTCCTACAGCTGACATATATC -3'
Posted On 2015-04-06