|Institutional Source||Beutler Lab|
|Gene Name||beta-2 microglobulin|
|Synonyms||Ly-m11, beta2-m, beta 2 microglobulin|
|Is this an essential gene?||Probably non essential (E-score: 0.120)|
|Stock #||R4930 (G1)|
|Chromosomal Location||122147686-122153083 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 122151647 bp|
|Amino Acid Change||Aspartic acid to Valine at position 116 (D116V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099534 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028665] [ENSMUST00000102476]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: D116V
PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: D116V
|Meta Mutation Damage Score||0.5465|
|Coding Region Coverage||
|Validation Efficiency||99% (88/89)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygotes lacking B2m appear normal, but have no detectable MHC class I antigen on their cells and are deficient in CD4- CD8+ T cells which mediate cytotoxic T cell function. Mutant mice are also subject to systemic iron loading. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in B2m||
(F):5'- GCCTTGGCAAGAAGCTAGTAG -3'
(R):5'- CAAGCCACCCTAATTAATGTCTTTC -3'
(F):5'- CTAGTAGACAGGAGTGGATCTCTG -3'
(R):5'- CTGTCTATAAACAGCTCCTAGGATAG -3'