|Institutional Source||Beutler Lab|
|Gene Name||histocompatibility 2, class II, locus DMa|
|Synonyms||H2-M alpha, H2-Ma, H-2Ma|
|Is this an essential gene?||Possibly non essential (E-score: 0.337)|
|Stock #||R7387 (G1)|
|Chromosomal Location||34135182-34139101 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 34138127 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 200 (Y200H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037088 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042121]|
|AlphaFold||no structure available at present|
AA Change: Y200H
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: Y200H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired antigen presenting cell function, poor IgG responses to T-dependent antigens, reduced numbers of mature CD4+ T cells, and increased susceptibility to Leishmania major infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in H2-DMa||
(F):5'- TATTCACACTGAAGCCCCTG -3'
(R):5'- GAATTGGATCATGGAAGCCCG -3'
(F):5'- ACACTGAAGCCCCTGGAGTTTG -3'
(R):5'- TCATGGAAGCCCGAAGTTG -3'