Incidental Mutation 'R0791:H2-Ob'
ID 82428
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 038971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0791 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34457879-34464882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34461588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 109 (T109N)
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: T180N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: T180N

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: T154N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: T154N

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: T109N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: T109N

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
Meta Mutation Damage Score 0.7944 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (59/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,994,098 (GRCm39) M5127I probably benign Het
Akr1c13 T C 13: 4,244,111 (GRCm39) Y55H probably damaging Het
Armh3 A T 19: 45,922,307 (GRCm39) probably null Het
Atp2b2 C T 6: 113,750,349 (GRCm39) R625H probably damaging Het
Bpifb2 T C 2: 153,720,439 (GRCm39) V66A probably benign Het
Ccdc33 T C 9: 57,936,046 (GRCm39) T950A possibly damaging Het
Ceacam19 A T 7: 19,616,557 (GRCm39) probably null Het
Cenpn T A 8: 117,667,559 (GRCm39) probably benign Het
Ces1f A T 8: 93,998,517 (GRCm39) Y160N possibly damaging Het
Clca3a1 A C 3: 144,710,615 (GRCm39) S863A probably benign Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Dock4 C T 12: 40,754,480 (GRCm39) R490W probably damaging Het
Evpl T A 11: 116,118,549 (GRCm39) Q686L probably damaging Het
Fbxw10 A G 11: 62,738,282 (GRCm39) S59G probably benign Het
Glb1l2 A G 9: 26,681,047 (GRCm39) V218A possibly damaging Het
Gpatch1 A T 7: 34,980,801 (GRCm39) probably benign Het
Grin2c G A 11: 115,141,472 (GRCm39) P882L probably damaging Het
Ipo8 A G 6: 148,723,225 (GRCm39) V64A possibly damaging Het
Jpt2 C A 17: 25,167,647 (GRCm39) A101S probably benign Het
Lamc1 C A 1: 153,110,326 (GRCm39) Q1116H possibly damaging Het
Lamc1 T C 1: 153,110,358 (GRCm39) S1106G probably benign Het
Lamc1 T G 1: 153,110,341 (GRCm39) Q1111H probably damaging Het
Large1 A G 8: 73,775,107 (GRCm39) probably benign Het
Lig4 A T 8: 10,023,012 (GRCm39) V256E possibly damaging Het
Mpz C A 1: 170,986,343 (GRCm39) Q86K possibly damaging Het
Mrps24 A G 11: 5,654,684 (GRCm39) V90A possibly damaging Het
Mtdh A G 15: 34,116,528 (GRCm39) probably benign Het
Mtor T C 4: 148,547,367 (GRCm39) V450A probably benign Het
Mycbpap A G 11: 94,402,449 (GRCm39) probably null Het
Myo6 T A 9: 80,169,656 (GRCm39) probably benign Het
Myom1 A T 17: 71,428,131 (GRCm39) I1450F probably damaging Het
Nbas T A 12: 13,532,634 (GRCm39) S1781T probably benign Het
Nedd1 T C 10: 92,555,476 (GRCm39) E3G probably damaging Het
Nt5c3 T C 6: 56,863,734 (GRCm39) T149A probably benign Het
Or5p56 A G 7: 107,589,740 (GRCm39) H56R probably benign Het
Osbp2 G A 11: 3,661,882 (GRCm39) probably benign Het
Paip1 T C 13: 119,566,854 (GRCm39) S54P possibly damaging Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Prdm14 G T 1: 13,195,968 (GRCm39) A31E probably benign Het
Ptpn14 C T 1: 189,568,637 (GRCm39) probably benign Het
Rims2 A G 15: 39,543,021 (GRCm39) probably benign Het
Rnf20 A G 4: 49,638,197 (GRCm39) N103S possibly damaging Het
Sema3g T A 14: 30,942,861 (GRCm39) probably benign Het
Slc30a6 T C 17: 74,722,640 (GRCm39) S236P possibly damaging Het
Slc5a1 T C 5: 33,315,421 (GRCm39) probably benign Het
Snx25 A T 8: 46,577,119 (GRCm39) M1K probably null Het
Synpo2 A G 3: 122,906,835 (GRCm39) V827A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trak2 A T 1: 58,942,820 (GRCm39) M862K probably benign Het
Trim42 A T 9: 97,247,732 (GRCm39) H321Q probably damaging Het
Twnk T C 19: 44,998,693 (GRCm39) probably benign Het
Tymp T C 15: 89,259,021 (GRCm39) K221R probably damaging Het
Uaca C A 9: 60,779,341 (GRCm39) Q1243K possibly damaging Het
Vwa8 T C 14: 79,232,016 (GRCm39) probably benign Het
Wnt4 C T 4: 137,016,594 (GRCm39) R83W probably damaging Het
Zfp820 T C 17: 22,038,509 (GRCm39) D273G probably benign Het
Zfp974 A T 7: 27,609,510 (GRCm39) Y738* probably null Het
Zkscan4 A C 13: 21,668,081 (GRCm39) E177D 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
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
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