Incidental Mutation 'IGL02657:Gbp2b'
ID302398
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 #IGL02657
Quality Score
Status
Chromosome3
Chromosomal Location142594847-142619179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 142604112 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 221 (R221L)
Ref Sequence ENSEMBL: ENSMUSP00000029936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029936]
Predicted Effect probably damaging
Transcript: ENSMUST00000029936
AA Change: R221L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: R221L

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,834,822 V120M possibly damaging Het
Aldh1l1 T C 6: 90,590,794 L680P probably damaging Het
Alox12 A T 11: 70,247,278 D410E probably benign Het
Amt T A 9: 108,301,380 V365E probably damaging Het
Ano9 A G 7: 141,107,440 S321P probably damaging Het
Atp2c2 A T 8: 119,753,032 I767F probably damaging Het
Bag1 A T 4: 40,936,643 Y338N probably benign Het
Bcr T A 10: 75,154,964 D767E probably benign Het
Chfr A T 5: 110,154,839 Q350L probably damaging Het
Cops3 A T 11: 59,830,217 L124H probably damaging Het
Ddx60 T C 8: 61,984,115 Y988H probably benign Het
Dnajc2 A T 5: 21,770,481 probably benign Het
Dym C T 18: 75,082,456 Q238* probably null Het
Fam126b A T 1: 58,535,402 W327R probably damaging Het
Fbn1 A T 2: 125,352,025 C1341S possibly damaging Het
Fryl G T 5: 73,054,860 N2308K probably benign Het
Gm4070 T C 7: 105,896,765 K2360R probably damaging Het
Gpat2 A G 2: 127,427,331 N8S probably benign Het
Ift52 A G 2: 163,045,215 D379G probably damaging Het
Inhbe C A 10: 127,350,776 L178F probably damaging Het
Ipo5 T C 14: 120,943,800 Y913H possibly damaging Het
Kif21b T A 1: 136,172,230 D1507E possibly damaging Het
Lnx2 A G 5: 147,028,174 V413A probably damaging Het
Lrrc40 C A 3: 158,036,773 F16L probably damaging Het
Magi2 A G 5: 19,227,583 K99E probably damaging Het
Me3 A G 7: 89,846,253 I357M probably benign Het
Med30 A G 15: 52,719,365 Y66C probably benign Het
Mief2 A T 11: 60,730,957 S118C probably damaging Het
Mylip A G 13: 45,391,246 S49G probably benign Het
Ncoa7 T A 10: 30,652,976 D107V probably damaging Het
Nvl C A 1: 181,106,976 V655F probably damaging Het
Olfml2b C T 1: 170,681,076 T501I probably benign Het
Ormdl2 T C 10: 128,820,317 I40V probably benign Het
Pde6b G T 5: 108,420,276 probably benign Het
Ralgapa1 A C 12: 55,673,507 L1785W probably damaging Het
Rnf112 A T 11: 61,450,252 probably null Het
Sema3c T A 5: 17,662,974 Y128N probably damaging Het
Sema3c A T 5: 17,576,868 M1L possibly damaging Het
Sema4b G A 7: 80,217,041 G255D probably damaging Het
Setd1a C T 7: 127,795,825 probably benign Het
Sirpb1a A C 3: 15,417,051 S72R possibly damaging Het
Slu7 T A 11: 43,442,022 probably null Het
Spata19 T C 9: 27,397,980 V59A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suclg1 T A 6: 73,260,521 V83E probably damaging Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Tap2 T C 17: 34,205,458 V55A probably damaging Het
Tekt4 T C 17: 25,473,758 I186T possibly damaging Het
Trpc6 C A 9: 8,643,601 D462E possibly damaging Het
Ubqln3 T G 7: 104,141,963 T307P probably damaging Het
Vmn1r64 A T 7: 5,883,728 I272K probably benign Het
Xpr1 T C 1: 155,290,280 T574A probably benign Het
Zfc3h1 A G 10: 115,411,954 T1021A possibly damaging Het
Zfp512 A T 5: 31,471,157 H159L probably 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
IGL02338:Gbp2b APN 3 142604226 missense probably benign 0.09
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
Posted On2015-04-16