Incidental Mutation 'R5084:H2-Ob'
ID 387340
Institutional Source Beutler Lab
Gene Symbol H2-Ob
Ensembl Gene ENSMUSG00000041538
Gene Name histocompatibility 2, O region beta locus
Synonyms A-beta2, H-2Ob, vic1, H2-Ab2, A-beta-2, H2-IAb2, Ob, H2-Ab, H-2I
MMRRC Submission 042673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5084 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34457879-34464882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34460102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 71 (G71V)
Ref Sequence ENSEMBL: ENSMUSP00000129657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095342] [ENSMUST00000167280] [ENSMUST00000173764]
AlphaFold A0A494BB12
Predicted Effect probably damaging
Transcript: ENSMUST00000095342
AA Change: G71V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: G71V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
MHC_II_beta 39 113 8.17e-34 SMART
IGc1 138 209 2.24e-24 SMART
transmembrane domain 225 247 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167280
AA Change: G71V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: G71V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
MHC_II_beta 39 113 8.17e-34 SMART
IGc1 120 183 4.55e-16 SMART
transmembrane domain 199 221 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173681
Predicted Effect probably benign
Transcript: ENSMUST00000173764
SMART Domains Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538

DomainStartEndE-ValueType
Pfam:MHC_II_beta 1 42 8e-12 PFAM
IGc1 67 138 2.24e-24 SMART
transmembrane domain 154 176 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,204,116 (GRCm39) E59D probably damaging Het
Akap7 T A 10: 25,155,640 (GRCm39) probably benign Het
Anpep C A 7: 79,476,618 (GRCm39) probably null Het
Aste1 T A 9: 105,274,886 (GRCm39) Y314* probably null Het
Ccdc183 G A 2: 25,498,802 (GRCm39) T497I probably damaging Het
Cd4 A T 6: 124,847,402 (GRCm39) I254N probably damaging Het
Crot G T 5: 9,019,994 (GRCm39) H449Q probably damaging Het
Dact2 A T 17: 14,418,214 (GRCm39) W164R possibly damaging Het
Dapk3 C A 10: 81,026,152 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbrsl1 G A 5: 110,527,272 (GRCm39) probably benign Het
Flg T C 3: 93,184,922 (GRCm39) F15L probably damaging Het
Fscn2 A G 11: 120,252,686 (GRCm39) D51G probably damaging Het
Hmgcs1 T C 13: 120,161,520 (GRCm39) V104A possibly damaging Het
Hs3st4 G T 7: 123,996,518 (GRCm39) D395Y probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Ldlrad3 G A 2: 101,900,329 (GRCm39) R58C probably damaging Het
Lpin1 A G 12: 16,626,983 (GRCm39) S188P probably damaging Het
Mamdc2 G T 19: 23,336,516 (GRCm39) T331K possibly damaging Het
Matr3 G A 18: 35,715,135 (GRCm39) S195N probably damaging Het
Nktr T C 9: 121,577,176 (GRCm39) Y390H possibly damaging Het
Notch3 C T 17: 32,376,864 (GRCm39) probably null Het
Olfm3 T C 3: 114,698,202 (GRCm39) probably null Het
Or10ak11 A G 4: 118,686,767 (GRCm39) V290A probably damaging Het
Or2a20 T C 6: 43,194,594 (GRCm39) L249P probably damaging Het
Or5h25 C T 16: 58,930,436 (GRCm39) C179Y possibly damaging Het
Or7e173 T A 9: 19,938,551 (GRCm39) I228F probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pask A G 1: 93,249,819 (GRCm39) V527A probably benign Het
Pcdha6 A T 18: 37,102,016 (GRCm39) N403I probably damaging Het
Peg3 T C 7: 6,710,848 (GRCm39) E1458G probably damaging Het
Pip4k2b G A 11: 97,610,569 (GRCm39) T386M probably damaging Het
Pkd1l1 T C 11: 8,892,004 (GRCm39) M272V probably benign Het
Plcb4 A G 2: 135,844,571 (GRCm39) E163G probably damaging Het
Plk5 C A 10: 80,194,723 (GRCm39) R149S possibly damaging Het
Pou4f3 A T 18: 42,528,933 (GRCm39) Y292F probably damaging Het
Rasgef1c A G 11: 49,860,332 (GRCm39) K272E probably damaging Het
Rbl2 C T 8: 91,841,759 (GRCm39) T942M probably benign Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Smarca4 T C 9: 21,572,059 (GRCm39) L777P probably damaging Het
Smpd1 T C 7: 105,206,185 (GRCm39) Y438H probably damaging Het
Sorl1 T C 9: 41,887,673 (GRCm39) K2052R probably benign Het
Spata31d1c C A 13: 65,182,944 (GRCm39) P162Q probably damaging Het
Spmip9 A G 6: 70,892,688 (GRCm39) S20P possibly damaging Het
Ston1 A T 17: 88,944,002 (GRCm39) E469D probably benign Het
Syde2 AGTTC AGTTCGTTC 3: 145,707,164 (GRCm39) probably null Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Taar5 T A 10: 23,846,836 (GRCm39) L78Q probably damaging Het
Tas2r114 A T 6: 131,666,251 (GRCm39) L259* probably null Het
Topaz1 T A 9: 122,577,883 (GRCm39) H264Q probably benign Het
Vcl G T 14: 21,059,027 (GRCm39) V548L possibly damaging Het
Vmn2r57 C A 7: 41,075,974 (GRCm39) probably null Het
Vmn2r92 A G 17: 18,405,439 (GRCm39) *861W probably null Het
Ylpm1 T G 12: 85,076,095 (GRCm39) V940G probably damaging Het
Zfp236 A G 18: 82,627,556 (GRCm39) S1500P probably damaging Het
Zfp384 G T 6: 125,000,642 (GRCm39) probably benign Het
Zfp786 T C 6: 47,796,953 (GRCm39) M662V probably benign Het
Other mutations in H2-Ob
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01871:H2-Ob APN 17 34,461,519 (GRCm39) missense probably damaging 1.00
IGL03247:H2-Ob APN 17 34,462,466 (GRCm39) missense probably benign
Deciduous UTSW 17 34,462,860 (GRCm39) critical splice acceptor site probably null
K3955:H2-Ob UTSW 17 34,460,158 (GRCm39) missense probably damaging 1.00
R0466:H2-Ob UTSW 17 34,461,633 (GRCm39) missense probably damaging 0.99
R0791:H2-Ob UTSW 17 34,461,588 (GRCm39) missense probably damaging 1.00
R0792:H2-Ob UTSW 17 34,461,588 (GRCm39) missense probably damaging 1.00
R0812:H2-Ob UTSW 17 34,463,100 (GRCm39) utr 3 prime probably benign
R2145:H2-Ob UTSW 17 34,461,554 (GRCm39) missense probably benign 0.00
R4677:H2-Ob UTSW 17 34,461,618 (GRCm39) missense probably benign 0.01
R4741:H2-Ob UTSW 17 34,461,545 (GRCm39) missense possibly damaging 0.73
R5011:H2-Ob UTSW 17 34,460,253 (GRCm39) critical splice donor site probably null
R5135:H2-Ob UTSW 17 34,462,490 (GRCm39) missense probably benign 0.20
R5497:H2-Ob UTSW 17 34,460,144 (GRCm39) missense probably benign 0.42
R6034:H2-Ob UTSW 17 34,460,192 (GRCm39) missense probably damaging 1.00
R6034:H2-Ob UTSW 17 34,460,192 (GRCm39) missense probably damaging 1.00
R6272:H2-Ob UTSW 17 34,461,618 (GRCm39) missense probably benign 0.01
R6433:H2-Ob UTSW 17 34,462,860 (GRCm39) critical splice acceptor site probably null
R6794:H2-Ob UTSW 17 34,460,162 (GRCm39) missense possibly damaging 0.96
R7220:H2-Ob UTSW 17 34,460,234 (GRCm39) missense probably damaging 1.00
R8996:H2-Ob UTSW 17 34,462,531 (GRCm39) missense probably damaging 0.97
R9484:H2-Ob UTSW 17 34,459,989 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTTAATGGTGGGCTTTTGAGAAC -3'
(R):5'- GAACCCCTAGATCTTATTGTCACCC -3'

Sequencing Primer
(F):5'- AGAACGTTGCTATCTGACTTAGTG -3'
(R):5'- CACCATTTCTCTCCACAGTGAAGG -3'
Posted On 2016-06-06