|Institutional Source||Beutler Lab|
|Gene Name||guanylate binding protein 2|
|Is this an essential gene?||Probably non essential (E-score: 0.159)|
|Stock #||R3978 (G1)|
|Chromosomal Location||142620602-142638008 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 142629986 bp|
|Amino Acid Change||Threonine to Isoleucine at position 149 (T149I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000132435 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165774] [ENSMUST00000169572]|
|Predicted Effect||possibly damaging
AA Change: T149I
PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: T149I
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.324|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to increased susceptibility to chronic Toxoplasma gondii infection, characterized by an increased parasite burden in the brain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gbp2||
(F):5'- AAGGCATTTTGCTACAAGAAGATGGTA -3'
(R):5'- TTTTCAGGGTCAGGGAATGTTC -3'
(F):5'- CTGCGATGAACATTATGGTCC -3'
(R):5'- GTTCCAGGTACTCATCAGAAGTGAC -3'