Incidental Mutation 'R0792:H2-Ob'
ID 82485
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 038972-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0792 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34457879-34464882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34461588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 109 (T109I)
Ref Sequence ENSEMBL: ENSMUSP00000133906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095342] [ENSMUST00000167280] [ENSMUST00000173764]
AlphaFold A0A494BB12
Predicted Effect probably damaging
Transcript: ENSMUST00000095342
AA Change: T180I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: T180I

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: T154I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: T154I

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 damaging
Transcript: ENSMUST00000173764
AA Change: T109I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: T109I

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: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 95.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,268,924 (GRCm39) V195A probably benign Het
Adgrb1 A G 15: 74,452,466 (GRCm39) M211V probably damaging Het
Ahnak G T 19: 8,994,098 (GRCm39) M5127I probably benign Het
Akr1c13 T C 13: 4,244,111 (GRCm39) Y55H probably damaging Het
Ap3d1 A T 10: 80,544,313 (GRCm39) H1161Q probably benign Het
Armh3 A T 19: 45,922,307 (GRCm39) probably null Het
Atp2b2 C T 6: 113,750,349 (GRCm39) R625H probably damaging Het
Bdnf G A 2: 109,554,463 (GRCm39) C239Y probably damaging Het
Bpifa5 G T 2: 154,007,539 (GRCm39) probably null Het
C9 T A 15: 6,516,243 (GRCm39) F349I probably damaging Het
Ccdc180 T C 4: 45,927,975 (GRCm39) V1170A possibly damaging Het
Celsr1 A G 15: 85,815,477 (GRCm39) V1846A probably benign Het
Cep68 A T 11: 20,190,652 (GRCm39) L120H possibly damaging Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Cpne1 G T 2: 155,919,339 (GRCm39) Q343K probably benign Het
Dlc1 A T 8: 37,405,702 (GRCm39) I29K probably benign Het
Dnah9 T C 11: 65,786,827 (GRCm39) D3602G possibly damaging Het
Dock1 A G 7: 134,475,879 (GRCm39) S885G probably benign Het
Evpl T A 11: 116,118,549 (GRCm39) Q686L probably damaging Het
Fmo6 C T 1: 162,748,132 (GRCm39) A311T probably damaging Het
Gli1 A T 10: 127,168,446 (GRCm39) M469K probably damaging Het
Grin2c G A 11: 115,141,472 (GRCm39) P882L probably damaging Het
Jpt2 C A 17: 25,167,647 (GRCm39) A101S probably benign Het
Krt1c A G 15: 101,724,932 (GRCm39) V226A probably damaging Het
Lamc1 T G 1: 153,110,341 (GRCm39) Q1111H probably damaging Het
Lamc1 T C 1: 153,110,358 (GRCm39) S1106G probably benign Het
Lamc1 C A 1: 153,110,326 (GRCm39) Q1116H possibly damaging Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp1 A T 10: 127,411,155 (GRCm39) D1399E probably benign Het
Ltbp4 G T 7: 27,024,485 (GRCm39) P715Q probably damaging Het
Mtor T C 4: 148,547,367 (GRCm39) V450A probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myom1 A T 17: 71,428,131 (GRCm39) I1450F probably damaging Het
Naip6 A G 13: 100,420,274 (GRCm39) I1332T possibly damaging Het
Ncstn A G 1: 171,899,072 (GRCm39) V353A possibly damaging Het
Nt5c3 T C 6: 56,863,734 (GRCm39) T149A probably benign Het
Or5ac21 A T 16: 59,124,352 (GRCm39) I280F probably damaging Het
Or5p81 A G 7: 108,267,364 (GRCm39) H247R probably damaging Het
Paip1 T C 13: 119,566,854 (GRCm39) S54P possibly damaging Het
Prdm14 G T 1: 13,195,968 (GRCm39) A31E probably benign Het
Prr14l A G 5: 32,985,767 (GRCm39) S1243P probably damaging Het
Prss1 T C 6: 41,435,878 (GRCm39) M1T probably null Het
Raver2 T A 4: 100,960,147 (GRCm39) V209D probably damaging Het
Scube1 T A 15: 83,512,277 (GRCm39) probably null Het
Serpina3c T A 12: 104,117,805 (GRCm39) I178F probably damaging Het
Slc16a13 A T 11: 70,111,457 (GRCm39) V16E probably damaging Het
Slc30a6 T C 17: 74,722,640 (GRCm39) S236P possibly damaging Het
Sobp A C 10: 42,898,689 (GRCm39) S299A probably damaging Het
Sorcs3 C A 19: 48,694,448 (GRCm39) T574K possibly damaging Het
Trak2 A T 1: 58,942,820 (GRCm39) M862K probably benign Het
Ubox5 A T 2: 130,442,630 (GRCm39) V19E probably damaging Het
Vmn1r173 A G 7: 23,402,160 (GRCm39) T132A probably benign Het
Zfp267 A G 3: 36,218,711 (GRCm39) M244V probably benign Het
Zfp820 T C 17: 22,038,509 (GRCm39) D273G 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
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
R5084:H2-Ob UTSW 17 34,460,102 (GRCm39) missense probably damaging 1.00
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'- TCCAGAGGTGACAGTGTATCCAGAG -3'
(R):5'- TCCCAGGCTTAGAGGCAAGTTGTG -3'

Sequencing Primer
(F):5'- CAGTGTATCCAGAGAGGACCC -3'
(R):5'- CAAGTTGTGGGTTAACAGCCTC -3'
Posted On 2013-11-08