Incidental Mutation 'IGL02026:Gbp2'
ID 184178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp2
Ensembl Gene ENSMUSG00000028270
Gene Name guanylate binding protein 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02026
Quality Score
Status
Chromosome 3
Chromosomal Location 142326424-142343769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142339241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 431 (Y431C)
Ref Sequence ENSEMBL: ENSMUSP00000132435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165774] [ENSMUST00000169572]
AlphaFold Q9Z0E6
Predicted Effect probably damaging
Transcript: ENSMUST00000165774
AA Change: Y431C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132435
Gene: ENSMUSG00000028270
AA Change: Y431C

DomainStartEndE-ValueType
Pfam:GBP 18 280 7.5e-124 PFAM
Pfam:GBP_C 282 578 1.3e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169572
SMART Domains Protein: ENSMUSP00000129039
Gene: ENSMUSG00000028270

DomainStartEndE-ValueType
Pfam:GBP 18 115 3.1e-49 PFAM
Pfam:MMR_HSR1 40 116 1.3e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,809,251 (GRCm39) V237E possibly damaging Het
Amh T C 10: 80,641,242 (GRCm39) L54P probably damaging Het
Aoc3 T C 11: 101,228,421 (GRCm39) S743P probably benign Het
Arhgap23 T A 11: 97,342,407 (GRCm39) W19R probably damaging Het
Atm C T 9: 53,353,717 (GRCm39) probably null Het
Ccdc47 T C 11: 106,095,853 (GRCm39) E281G probably damaging Het
Col7a1 A C 9: 108,797,097 (GRCm39) K1650N probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Evi2b T C 11: 79,406,613 (GRCm39) S321G probably damaging Het
Fancm T G 12: 65,152,508 (GRCm39) V988G probably benign Het
Gclc T C 9: 77,699,342 (GRCm39) V530A probably benign Het
Gm5885 T C 6: 133,508,291 (GRCm39) noncoding transcript Het
Hlcs A T 16: 93,935,564 (GRCm39) I576N probably damaging Het
Hnrnpul1 A T 7: 25,444,587 (GRCm39) F240L probably damaging Het
Itgb6 C A 2: 60,458,410 (GRCm39) V448F possibly damaging Het
Lama1 A G 17: 68,116,287 (GRCm39) T2385A possibly damaging Het
Lamc2 C T 1: 153,020,482 (GRCm39) probably benign Het
Lrrc32 C T 7: 98,148,767 (GRCm39) R516C probably benign Het
Lrrtm3 T C 10: 63,924,231 (GRCm39) N312S probably damaging Het
Ltbp4 G A 7: 27,026,842 (GRCm39) R468* probably null Het
Man1a T C 10: 53,890,569 (GRCm39) E373G probably damaging Het
Myo1h A T 5: 114,461,505 (GRCm39) Q250L probably null Het
Myo9a T C 9: 59,813,245 (GRCm39) V2077A probably damaging Het
Or14j3 A G 17: 37,900,298 (GRCm39) probably benign Het
Otud5 C T X: 7,738,232 (GRCm39) probably benign Het
Pcsk1 A G 13: 75,260,772 (GRCm39) S332G probably benign Het
Pde8b A G 13: 95,170,869 (GRCm39) V549A probably damaging Het
Pgap1 A T 1: 54,533,978 (GRCm39) M645K probably benign Het
Pm20d1 A T 1: 131,729,497 (GRCm39) R175* probably null Het
Polr2b A G 5: 77,480,099 (GRCm39) N585S probably benign Het
Recql T A 6: 142,312,394 (GRCm39) K41* probably null Het
Sccpdh A T 1: 179,505,634 (GRCm39) H138L possibly damaging Het
Sec31a A T 5: 100,517,485 (GRCm39) S951T probably benign Het
Slc44a4 A T 17: 35,140,832 (GRCm39) probably benign Het
Tchhl1 G T 3: 93,377,862 (GRCm39) A189S probably damaging Het
Tdrd12 G A 7: 35,203,658 (GRCm39) probably benign Het
Tesl2 T G X: 23,824,233 (GRCm39) H314P probably damaging Het
Trbv12-1 A G 6: 41,090,928 (GRCm39) D100G probably damaging Het
Ttll13 T A 7: 79,910,127 (GRCm39) S757T probably benign Het
Vipas39 T A 12: 87,298,483 (GRCm39) probably benign Het
Vmn1r64 G A 7: 5,886,649 (GRCm39) P298L possibly damaging Het
Vmn1r81 A G 7: 11,994,432 (GRCm39) S59P probably damaging Het
Vsx1 A T 2: 150,530,447 (GRCm39) V145D probably benign Het
Wdfy4 T A 14: 32,815,257 (GRCm39) N1586I probably damaging Het
Zan T A 5: 137,403,726 (GRCm39) probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zzef1 T A 11: 72,772,164 (GRCm39) M1707K probably benign Het
Other mutations in Gbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02055:Gbp2 APN 3 142,337,991 (GRCm39) missense probably benign 0.16
IGL03024:Gbp2 APN 3 142,337,780 (GRCm39) missense probably damaging 1.00
P4717OSA:Gbp2 UTSW 3 142,336,357 (GRCm39) missense possibly damaging 0.63
PIT4445001:Gbp2 UTSW 3 142,343,227 (GRCm39) missense probably benign
R0267:Gbp2 UTSW 3 142,335,867 (GRCm39) missense probably benign 0.00
R0507:Gbp2 UTSW 3 142,335,794 (GRCm39) missense probably damaging 1.00
R0601:Gbp2 UTSW 3 142,336,519 (GRCm39) missense possibly damaging 0.47
R1005:Gbp2 UTSW 3 142,336,262 (GRCm39) splice site probably benign
R1006:Gbp2 UTSW 3 142,343,183 (GRCm39) missense probably damaging 1.00
R1795:Gbp2 UTSW 3 142,336,284 (GRCm39) missense possibly damaging 0.61
R1893:Gbp2 UTSW 3 142,335,933 (GRCm39) splice site probably benign
R2398:Gbp2 UTSW 3 142,339,123 (GRCm39) missense probably benign 0.01
R3978:Gbp2 UTSW 3 142,335,747 (GRCm39) missense possibly damaging 0.88
R4095:Gbp2 UTSW 3 142,343,210 (GRCm39) missense probably benign
R4490:Gbp2 UTSW 3 142,329,525 (GRCm39) missense probably benign 0.30
R5799:Gbp2 UTSW 3 142,337,843 (GRCm39) missense probably benign
R5834:Gbp2 UTSW 3 142,339,138 (GRCm39) missense probably damaging 0.98
R6159:Gbp2 UTSW 3 142,338,018 (GRCm39) missense probably damaging 0.99
R6237:Gbp2 UTSW 3 142,337,793 (GRCm39) missense probably benign
R6494:Gbp2 UTSW 3 142,337,769 (GRCm39) missense probably damaging 0.98
R6982:Gbp2 UTSW 3 142,335,846 (GRCm39) missense probably damaging 1.00
R7190:Gbp2 UTSW 3 142,339,208 (GRCm39) missense probably benign 0.15
R8292:Gbp2 UTSW 3 142,329,584 (GRCm39) missense probably damaging 1.00
R9215:Gbp2 UTSW 3 142,338,036 (GRCm39) critical splice donor site probably null
R9768:Gbp2 UTSW 3 142,341,055 (GRCm39) missense probably benign 0.03
Z1088:Gbp2 UTSW 3 142,335,776 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07