Incidental Mutation 'IGL02026:Gbp2'
ID184178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp2
Ensembl Gene ENSMUSG00000028270
Gene Nameguanylate binding protein 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02026
Quality Score
Status
Chromosome3
Chromosomal Location142620602-142638008 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 142633480 bp
ZygosityHeterozygous
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]
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: 68,571,802 V237E possibly damaging Het
Amh T C 10: 80,805,408 L54P probably damaging Het
Aoc3 T C 11: 101,337,595 S743P probably benign Het
Arhgap23 T A 11: 97,451,581 W19R probably damaging Het
Atm C T 9: 53,442,417 probably null Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Ccdc47 T C 11: 106,205,027 E281G probably damaging Het
Col7a1 A C 9: 108,968,029 K1650N probably damaging Het
Evi2b T C 11: 79,515,787 S321G probably damaging Het
Fancm T G 12: 65,105,734 V988G probably benign Het
Gclc T C 9: 77,792,060 V530A probably benign Het
Gm4985 T G X: 23,957,994 H314P probably damaging Het
Gm5885 T C 6: 133,531,328 noncoding transcript Het
Hlcs A T 16: 94,134,705 I576N probably damaging Het
Hnrnpul1 A T 7: 25,745,162 F240L probably damaging Het
Itgb6 C A 2: 60,628,066 V448F possibly damaging Het
Lama1 A G 17: 67,809,292 T2385A possibly damaging Het
Lamc2 C T 1: 153,144,736 probably benign Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Lrrtm3 T C 10: 64,088,452 N312S probably damaging Het
Ltbp4 G A 7: 27,327,417 R468* probably null Het
Man1a T C 10: 54,014,473 E373G probably damaging Het
Myo1h A T 5: 114,323,444 Q250L probably null Het
Myo9a T C 9: 59,905,962 V2077A probably damaging Het
Olfr114 A G 17: 37,589,407 probably benign Het
Otud5 C T X: 7,871,993 probably benign Het
Pcsk1 A G 13: 75,112,653 S332G probably benign Het
Pde8b A G 13: 95,034,361 V549A probably damaging Het
Pgap1 A T 1: 54,494,819 M645K probably benign Het
Pm20d1 A T 1: 131,801,759 R175* probably null Het
Polr2b A G 5: 77,332,252 N585S probably benign Het
Recql T A 6: 142,366,668 K41* probably null Het
Sccpdh A T 1: 179,678,069 H138L possibly damaging Het
Sec31a A T 5: 100,369,626 S951T probably benign Het
Slc44a4 A T 17: 34,921,856 probably benign Het
Tchhl1 G T 3: 93,470,555 A189S probably damaging Het
Tdrd12 G A 7: 35,504,233 probably benign Het
Trbv12-1 A G 6: 41,113,994 D100G probably damaging Het
Ttll13 T A 7: 80,260,379 S757T probably benign Het
Vipas39 T A 12: 87,251,709 probably benign Het
Vmn1r64 G A 7: 5,883,650 P298L possibly damaging Het
Vmn1r81 A G 7: 12,260,505 S59P probably damaging Het
Vsx1 A T 2: 150,688,527 V145D probably benign Het
Wdfy4 T A 14: 33,093,300 N1586I probably damaging Het
Zan T A 5: 137,405,464 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zzef1 T A 11: 72,881,338 M1707K probably benign Het
Other mutations in Gbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02055:Gbp2 APN 3 142632230 missense probably benign 0.16
IGL03024:Gbp2 APN 3 142632019 missense probably damaging 1.00
P4717OSA:Gbp2 UTSW 3 142630596 missense possibly damaging 0.63
PIT4445001:Gbp2 UTSW 3 142637466 missense probably benign
R0267:Gbp2 UTSW 3 142630106 missense probably benign 0.00
R0507:Gbp2 UTSW 3 142630033 missense probably damaging 1.00
R0601:Gbp2 UTSW 3 142630758 missense possibly damaging 0.47
R1005:Gbp2 UTSW 3 142630501 splice site probably benign
R1006:Gbp2 UTSW 3 142637422 missense probably damaging 1.00
R1795:Gbp2 UTSW 3 142630523 missense possibly damaging 0.61
R1893:Gbp2 UTSW 3 142630172 splice site probably benign
R2398:Gbp2 UTSW 3 142633362 missense probably benign 0.01
R3978:Gbp2 UTSW 3 142629986 missense possibly damaging 0.88
R4095:Gbp2 UTSW 3 142637449 missense probably benign
R4490:Gbp2 UTSW 3 142623764 missense probably benign 0.30
R5799:Gbp2 UTSW 3 142632082 missense probably benign
R5834:Gbp2 UTSW 3 142633377 missense probably damaging 0.98
R6159:Gbp2 UTSW 3 142632257 missense probably damaging 0.99
R6237:Gbp2 UTSW 3 142632032 missense probably benign
R6494:Gbp2 UTSW 3 142632008 missense probably damaging 0.98
R6982:Gbp2 UTSW 3 142630085 missense probably damaging 1.00
R7190:Gbp2 UTSW 3 142633447 missense probably benign 0.15
R8292:Gbp2 UTSW 3 142623823 missense probably damaging 1.00
Z1088:Gbp2 UTSW 3 142630015 missense probably benign 0.00
Posted On2014-05-07