Incidental Mutation 'R6191:B2m'

• ID: 502539
• Institutional Source: Beutler Lab
• Gene Symbol: B2m
• Ensembl Gene: ENSMUSG00000060802
• Gene Name: beta-2 microglobulin
• Synonyms: Ly-m11, beta2-m, beta 2 microglobulin
• MMRRC Submission: 044331-MU
• Is this an essential gene?: Probably non essential (E-score: 0.126)
• Stock #: R6191 (G1)
• Quality Score: 225.009
• Status: Validated
• Chromosome: 2
• Chromosomal Location: 122147686-122153083 bp(+) (GRCm38)
• Type of Mutation: missense
• DNA Base Change (assembly): A to T at 122150915 bp
• Zygosity: Heterozygous
• Amino Acid Change: Asparagine to Isoleucine at position 37 (N37I)
• Ref Sequence: ENSEMBL: ENSMUSP00000099534
• Gene Model: predicted gene model for transcript(s): [ENSMUST00000028665] [ENSMUST00000102476]

THE CRYSTAL STRUCTURE OF H-2DD MHC CLASS I IN COMPLEX WITH THE HIV-1 DERIVED PEPTIDE P18-110 [X-RAY DIFFRACTION] MURINE CD8AA ECTODOMAIN FRAGMENT IN COMPLEX WITH H-2KB/VSV8 [X-RAY DIFFRACTION] CRYSTAL STRUCTURE OF MURINE CLASS I MHC H2-DB COMPLEXED WITH A SYNTHETIC PEPTIDE P1027 [X-RAY DIFFRACTION] CD1(MOUSE) ANTIGEN PRESENTING MOLECULE [X-RAY DIFFRACTION] MHC CLASS I H-2DD HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND AN IMMUNODOMINANT PEPTIDE P18-I10 FROM THE HUMAN IMMUNODEFICIENCY VIRUS ENVELOPE GLYCOPROTEIN 120 [X-RAY DIFFRACTION] CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33(C9M) [X-RAY DIFFRACTION] CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH SYNTHETIC PEPTIDE GP33 (C9M/K1A) [X-RAY DIFFRACTION] CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33 (C9M/K1S) [X-RAY DIFFRACTION] CRYSTAL STRUCTURE OF THE LCMV PEPTIDIC EPITOPE GP33 IN COMPLEX WITH THE MURINE CLASS I MHC MOLECULE H-2DB [X-RAY DIFFRACTION] MURINE ALLOREACTIVE SCFV TCR-PEPTIDE-MHC CLASS I MOLECULE COMPLEX [X-RAY DIFFRACTION] >> 188 additional structures at PDB <<

• Predicted Effect: probably benign; Transcript: ENSMUST00000028665
• SMART Domains: Protein: ENSMUSP00000028665; Gene: ENSMUSG00000027233

Domain	Start	End	E-Value	Type
low complexity region	33	41	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:PAT1	247	490	6.7e-12	PFAM

• Predicted Effect: possibly damaging; Transcript: ENSMUST00000102476; AA Change: N37I; PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
• SMART Domains: Protein: ENSMUSP00000099534; Gene: ENSMUSG00000060802; AA Change: N37I

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
IGc1	40	110	5.51e-24	SMART

• Meta Mutation Damage Score: 0.2434
• Coding Region Coverage:
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
• Validation Efficiency: 99% (84/85)
• MGI Phenotype: 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]
• Posted On: 2018-02-27

Predicted Primers

PCR Primer
(F):5'- CTGCTAAAAGCCAGGTAGGG -3'
(R):5'- GGCATGCTTAACTCTGCAGG -3'

Sequencing Primer
(F):5'- ACAGAAGGTACTCGTAGGATTTTG -3'
(R):5'- AACTCTGCAGGCGTATGTATCAGTC -3'