|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 #||R5042 (G1)|
|Chromosomal Location||142594847-142619179 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 142611463 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 527 (K527E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029936 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029936]|
|Predicted Effect||probably benign
AA Change: K527E
PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: K527E
|Meta Mutation Damage Score||0.118|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
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'- TCAGGGTAAAGATTCCACAAAGTG -3'
(R):5'- ATGTCCTAGAGTGGGTGGTACC -3'
(F):5'- CAAACAAACAAAACGAAAGCCTCTC -3'
(R):5'- TTATAAGGGCAGAACTGGGATG -3'