|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 #||R8312 (G1)|
|Chromosomal Location||142594847-142619179 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 142599054 bp|
|Amino Acid Change||Proline to Threonine at position 84 (P84T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029936 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029936]|
|Predicted Effect||probably damaging
AA Change: P84T
PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: P84T
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
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'- AGCATTGGATGTTCTGCACTC -3'
(R):5'- GACTTTAGTATCAACTCTTGGTTCC -3'
(F):5'- ACTCCATGTTTCCTGGTTTGAAATC -3'
(R):5'- AACTCTTGGTTCCTATGTTAGGTAAG -3'