Incidental Mutation 'IGL02338:Gbp2b'
ID288950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp2b
Ensembl Gene ENSMUSG00000040264
Gene Nameguanylate binding protein 2b
SynonymsGbp1, Mpa1, Mag-1, Gbp-1, Mpa-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02338
Quality Score
Status
Chromosome3
Chromosomal Location142594847-142619179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 142604226 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 259 (E259G)
Ref Sequence ENSEMBL: ENSMUSP00000029936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029936]
Predicted Effect probably benign
Transcript: ENSMUST00000029936
AA Change: E259G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: E259G

DomainStartEndE-ValueType
Pfam:GBP 18 280 4.1e-122 PFAM
Pfam:GBP_C 282 578 5.5e-125 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 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
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 133,062,549 C367Y possibly damaging Het
AI182371 T A 2: 35,085,716 I279L probably benign Het
Ambp A T 4: 63,143,697 C332S probably damaging Het
App T C 16: 85,173,519 T14A probably benign Het
Asap1 A T 15: 64,123,670 probably null Het
Aurka T C 2: 172,359,858 R242G probably benign Het
BC034090 G A 1: 155,217,471 P747L probably damaging Het
Bcl6b T C 11: 70,229,092 D23G probably damaging Het
Cabp2 A C 19: 4,084,154 E42A possibly damaging Het
Ccdc14 G A 16: 34,721,803 S557N probably benign Het
Ccdc146 G T 5: 21,319,606 probably benign Het
Cenpf T A 1: 189,680,418 Q216L probably damaging Het
Ces1b G A 8: 93,057,047 P515L possibly damaging Het
Col6a5 A T 9: 105,878,630 N2198K probably damaging Het
Csmd2 A G 4: 128,395,066 S1133G possibly damaging Het
Cspg5 G A 9: 110,256,267 R502H probably benign Het
Cyp2g1 A G 7: 26,814,804 probably benign Het
Dnajc27 A G 12: 4,096,229 Y86C probably damaging Het
Dnm1 T C 2: 32,312,771 D715G probably damaging Het
Dock1 G T 7: 135,133,075 L1317F possibly damaging Het
Fanci T A 7: 79,433,531 Y727* probably null Het
Fbxw20 T A 9: 109,225,978 T168S probably benign Het
Folh1 A T 7: 86,736,515 probably benign Het
Gas7 A T 11: 67,682,731 S379C probably damaging Het
Gm8325 T C 3: 60,877,384 noncoding transcript Het
Gm9268 T C 7: 43,047,736 I739T probably damaging Het
Gpr75 A T 11: 30,891,730 T212S probably benign Het
Itgb4 A G 11: 116,007,969 T1711A probably damaging Het
Ly75 T C 2: 60,354,452 S453G probably benign Het
Maneal A G 4: 124,860,483 probably benign Het
Marco A T 1: 120,494,779 I58N possibly damaging Het
Mtcl1 A G 17: 66,379,970 I647T probably damaging Het
Mtfr1l A T 4: 134,530,743 V56D probably damaging Het
Npy1r G A 8: 66,704,302 V125I probably damaging Het
Olfr348 C T 2: 36,786,545 Q7* probably null Het
Olfr659 T C 7: 104,671,681 probably benign Het
Olfr843 A G 9: 19,248,664 L245P probably damaging Het
Osmr A T 15: 6,837,729 L362* probably null Het
Pdlim2 T C 14: 70,174,457 D42G probably damaging Het
Plcb4 T A 2: 136,000,180 I89N possibly damaging Het
Prrc2b T A 2: 32,214,035 M1175K probably benign Het
Pzp T A 6: 128,486,170 N1423I probably benign Het
Retnla G A 16: 48,844,198 C105Y probably damaging Het
Samd8 T A 14: 21,775,476 S167T possibly damaging Het
Scg2 A G 1: 79,436,493 M171T possibly damaging Het
Slc30a5 A G 13: 100,803,433 V658A probably damaging Het
Slc41a2 T C 10: 83,316,591 R7G possibly damaging Het
Slc44a2 A G 9: 21,347,042 T500A probably damaging Het
Slc44a4 G T 17: 34,923,810 G396V possibly damaging Het
Smarca5 A G 8: 80,719,570 probably benign Het
St8sia6 T A 2: 13,793,345 R34W probably damaging Het
Stk-ps2 T A 1: 46,030,177 noncoding transcript Het
Stn1 T C 19: 47,513,890 Y235C probably damaging Het
Tbx15 A G 3: 99,352,484 Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 probably null Het
Thsd7b G T 1: 129,595,771 V181L probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Trpm4 T G 7: 45,326,998 R51S probably damaging Het
Vmn1r91 A T 7: 20,101,746 T197S probably damaging Het
Xrn1 A G 9: 95,977,827 D424G probably benign Het
Yap1 A G 9: 7,962,281 probably null Het
Zer1 T C 2: 30,113,393 D4G probably damaging Het
Zfp462 A T 4: 55,010,292 I753F possibly damaging Het
Other mutations in Gbp2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Gbp2b APN 3 142598312 missense probably damaging 1.00
IGL01892:Gbp2b APN 3 142603620 missense probably benign 0.03
IGL01989:Gbp2b APN 3 142611440 missense probably benign 0.19
IGL02019:Gbp2b APN 3 142606990 missense possibly damaging 0.52
IGL02657:Gbp2b APN 3 142604112 missense probably damaging 1.00
IGL03148:Gbp2b APN 3 142606881 missense probably benign 0.00
FR4304:Gbp2b UTSW 3 142603652 missense probably benign 0.00
FR4340:Gbp2b UTSW 3 142603652 missense probably benign 0.00
FR4342:Gbp2b UTSW 3 142603652 missense probably benign 0.00
FR4589:Gbp2b UTSW 3 142603652 missense probably benign 0.00
R0329:Gbp2b UTSW 3 142608176 missense probably benign 0.01
R0345:Gbp2b UTSW 3 142608183 missense probably damaging 1.00
R0358:Gbp2b UTSW 3 142606789 missense probably damaging 1.00
R0732:Gbp2b UTSW 3 142606978 missense probably benign
R1163:Gbp2b UTSW 3 142599096 missense probably damaging 1.00
R1550:Gbp2b UTSW 3 142606830 missense probably damaging 0.99
R1629:Gbp2b UTSW 3 142610974 missense possibly damaging 0.93
R1886:Gbp2b UTSW 3 142608302 missense probably benign
R1887:Gbp2b UTSW 3 142608302 missense probably benign
R2188:Gbp2b UTSW 3 142608279 missense probably benign 0.44
R2261:Gbp2b UTSW 3 142606735 missense probably benign 0.00
R3977:Gbp2b UTSW 3 142603709 missense probably benign 0.02
R4718:Gbp2b UTSW 3 142598995 missense probably damaging 1.00
R4788:Gbp2b UTSW 3 142611410 missense probably benign 0.21
R4807:Gbp2b UTSW 3 142598245 missense probably benign 0.02
R5042:Gbp2b UTSW 3 142611463 missense probably benign 0.03
R5087:Gbp2b UTSW 3 142598254 missense probably damaging 1.00
R5114:Gbp2b UTSW 3 142598185 missense probably damaging 1.00
R5414:Gbp2b UTSW 3 142599091 missense probably damaging 1.00
R5567:Gbp2b UTSW 3 142611365 missense possibly damaging 0.75
R5625:Gbp2b UTSW 3 142599045 missense probably damaging 1.00
R5685:Gbp2b UTSW 3 142608158 missense probably benign
R6030:Gbp2b UTSW 3 142603653 missense probably benign 0.00
R6030:Gbp2b UTSW 3 142603653 missense probably benign 0.00
R6408:Gbp2b UTSW 3 142618138 missense probably benign 0.00
R6500:Gbp2b UTSW 3 142611491 missense probably benign 0.06
R6581:Gbp2b UTSW 3 142608238 nonsense probably null
R6582:Gbp2b UTSW 3 142611040 missense possibly damaging 0.53
R6847:Gbp2b UTSW 3 142598179 missense probably damaging 0.96
R6923:Gbp2b UTSW 3 142600559 missense probably benign 0.01
R7120:Gbp2b UTSW 3 142606746 missense probably benign 0.01
R7255:Gbp2b UTSW 3 142608117 missense probably damaging 1.00
Posted On2015-04-16