Incidental Mutation 'R4084:H2-Eb1'
ID 317053
Institutional Source Beutler Lab
Gene Symbol H2-Eb1
Ensembl Gene ENSMUSG00000060586
Gene Name histocompatibility 2, class II antigen E beta
Synonyms H-2Eb, Ia-4, Ia4
MMRRC Submission 040857-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4084 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34524841-34535648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34533417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 213 (V213A)
Ref Sequence ENSEMBL: ENSMUSP00000074143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074557]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074557
AA Change: V213A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074143
Gene: ENSMUSG00000060586
AA Change: V213A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
MHC_II_beta 40 114 4.64e-47 SMART
IGc1 139 210 2.24e-24 SMART
transmembrane domain 226 248 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. 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. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl2 A T 9: 102,601,884 (GRCm39) probably null Het
Arhgdig T C 17: 26,418,799 (GRCm39) D114G possibly damaging Het
Btnl1 C T 17: 34,600,133 (GRCm39) T212I possibly damaging Het
Camkk1 C T 11: 72,928,691 (GRCm39) T410I probably damaging Het
Capn13 C T 17: 73,644,444 (GRCm39) G362R probably benign Het
Catsperd A G 17: 56,961,453 (GRCm39) T392A probably benign Het
Ccdc180 A G 4: 45,950,632 (GRCm39) I1626V probably benign Het
Cdon C A 9: 35,389,427 (GRCm39) T844K probably damaging Het
Col28a1 G A 6: 8,013,131 (GRCm39) Q974* probably null Het
Col28a1 C G 6: 8,013,132 (GRCm39) K973N possibly damaging Het
Dnhd1 T C 7: 105,358,795 (GRCm39) L3428P probably damaging Het
Ecm1 A T 3: 95,641,676 (GRCm39) N519K probably damaging Het
Fbxw11 T C 11: 32,689,248 (GRCm39) V457A probably damaging Het
Flna C T X: 73,280,531 (GRCm39) V1009M possibly damaging Het
Fmnl2 A T 2: 52,997,507 (GRCm39) K486I possibly damaging Het
Gja1 A C 10: 56,264,607 (GRCm39) Q322P possibly damaging Het
Gtpbp3 A G 8: 71,943,156 (GRCm39) Q189R probably benign Het
Herc4 G T 10: 63,119,016 (GRCm39) G322V probably damaging Het
Hgf G T 5: 16,820,856 (GRCm39) G668* probably null Het
Htra1 T C 7: 130,538,074 (GRCm39) S25P probably benign Het
Ifi44 A G 3: 151,451,126 (GRCm39) probably null Het
Klhl24 T A 16: 19,933,312 (GRCm39) S308T probably damaging Het
Lamb2 A G 9: 108,365,217 (GRCm39) N1291S probably benign Het
Lgals9 A T 11: 78,860,589 (GRCm39) F162Y possibly damaging Het
Lig3 T A 11: 82,686,250 (GRCm39) I634N probably damaging Het
Lipn T C 19: 34,056,340 (GRCm39) F229L probably benign Het
Lmtk3 T A 7: 45,442,716 (GRCm39) S466R probably damaging Het
Lonrf2 G A 1: 38,860,232 (GRCm39) T22I probably benign Het
Macf1 T C 4: 123,343,865 (GRCm39) H2119R probably damaging Het
Muc6 C T 7: 141,234,920 (GRCm39) C634Y probably damaging Het
Nap1l1 G A 10: 111,325,938 (GRCm39) V86I possibly damaging Het
Noxred1 A G 12: 87,280,258 (GRCm39) Y25H possibly damaging Het
Nphp4 T C 4: 152,573,248 (GRCm39) L62P probably damaging Het
Or11h6 T A 14: 50,880,305 (GRCm39) I189N probably damaging Het
Or2b2 G A 13: 21,887,238 (GRCm39) W22* probably null Het
Or2b2 C A 13: 21,887,239 (GRCm39) L23M probably damaging Het
Or52ab4 T G 7: 102,987,527 (GRCm39) F89V probably damaging Het
Pcdh10 A C 3: 45,347,142 (GRCm39) D979A probably damaging Het
Pla2g4f C G 2: 120,142,806 (GRCm39) Q101H probably benign Het
Ppp1r15b T C 1: 133,060,805 (GRCm39) F441L probably damaging Het
Prkaca C A 8: 84,721,939 (GRCm39) P309T probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ripor3 A G 2: 167,826,386 (GRCm39) Y720H possibly damaging Het
Rpgrip1 A G 14: 52,386,808 (GRCm39) E751G possibly damaging Het
Rsf1 GCGGCGGCGGCGGCGGC GCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,126 (GRCm39) probably benign Het
Ryr3 A G 2: 112,731,253 (GRCm39) S686P probably damaging Het
Seh1l T C 18: 67,921,860 (GRCm39) V240A possibly damaging Het
Slc10a2 T G 8: 5,139,126 (GRCm39) I273L possibly damaging Het
Slc23a2 A T 2: 131,933,137 (GRCm39) L107* probably null Het
Slc44a4 T C 17: 35,136,323 (GRCm39) L38P probably damaging Het
Slc6a18 C T 13: 73,815,148 (GRCm39) V387I probably benign Het
Slu7 G A 11: 43,334,218 (GRCm39) A415T probably benign Het
Tlr5 A T 1: 182,802,413 (GRCm39) R572S possibly damaging Het
Tmem45a2 C T 16: 56,891,387 (GRCm39) G3D probably benign Het
Trim24 A G 6: 37,892,192 (GRCm39) T242A probably damaging Het
Triobp T A 15: 78,857,871 (GRCm39) N1157K probably benign Het
Ugt1a6a A T 1: 88,066,899 (GRCm39) D235V probably benign Het
Vmn2r37 C T 7: 9,218,984 (GRCm39) V467I probably benign Het
Vmn2r7 C T 3: 64,600,414 (GRCm39) E495K probably benign Het
Vstm2a A G 11: 16,213,098 (GRCm39) E161G probably damaging Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp1005 T A 2: 150,108,122 (GRCm39) N27K possibly damaging Het
Zfp27 C T 7: 29,594,792 (GRCm39) R391H possibly damaging Het
Other mutations in H2-Eb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0724:H2-Eb1 UTSW 17 34,534,006 (GRCm39) splice site probably benign
R0763:H2-Eb1 UTSW 17 34,533,133 (GRCm39) splice site probably benign
R2029:H2-Eb1 UTSW 17 34,533,366 (GRCm39) missense probably damaging 1.00
R3155:H2-Eb1 UTSW 17 34,533,348 (GRCm39) missense probably damaging 0.98
R3440:H2-Eb1 UTSW 17 34,528,655 (GRCm39) missense probably damaging 1.00
R4050:H2-Eb1 UTSW 17 34,533,342 (GRCm39) missense probably damaging 1.00
R5605:H2-Eb1 UTSW 17 34,528,807 (GRCm39) missense probably benign 0.09
R5667:H2-Eb1 UTSW 17 34,533,229 (GRCm39) nonsense probably null
R5671:H2-Eb1 UTSW 17 34,533,229 (GRCm39) nonsense probably null
R5851:H2-Eb1 UTSW 17 34,528,745 (GRCm39) missense probably benign 0.13
R6951:H2-Eb1 UTSW 17 34,528,831 (GRCm39) nonsense probably null
R7387:H2-Eb1 UTSW 17 34,533,207 (GRCm39) missense probably damaging 1.00
R9160:H2-Eb1 UTSW 17 34,528,831 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATGGTTCCGGAATGGCAAG -3'
(R):5'- CTGTTATGTCACTGGCAGGC -3'

Sequencing Primer
(F):5'- TTCCGGAATGGCAAGGAGGAG -3'
(R):5'- ATGTCACTGGCAGGCTCAGATG -3'
Posted On 2015-05-15