|Institutional Source||Beutler Lab|
|Gene Name||guanylate binding protein 2b|
|Synonyms||Gbp1, Mpa1, Mag-1, Gbp-1, Mpa-1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0358 (G1)|
|Chromosomal Location||142594847-142619179 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 142606789 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 311 (E311V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029936 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029936]|
|Predicted Effect||probably damaging
AA Change: E311V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E311V
|Meta Mutation Damage Score||0.8365|
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gbp2b||
(F):5'- TCCATCCAAGCCCTGTCCTGAATG -3'
(R):5'- ATGAAGACCTCAATGGCCTCCCTC -3'
(F):5'- AGCCCTGTCCTGAATGATTCAATAC -3'
(R):5'- AATGGCCTCCCTCTCACAG -3'