Incidental Mutation 'IGL02657:Gbp2b'
ID 302398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp2b
Ensembl Gene ENSMUSG00000040264
Gene Name guanylate binding protein 2b
Synonyms Mag-1, Mpa-1, Mpa1, Gbp-1, Gbp1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02657
Quality Score
Status
Chromosome 3
Chromosomal Location 142300608-142324940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 142309873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 221 (R221L)
Ref Sequence ENSEMBL: ENSMUSP00000029936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029936]
AlphaFold no structure available at present
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: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Gbp2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Gbp2b APN 3 142,304,073 (GRCm39) missense probably damaging 1.00
IGL01892:Gbp2b APN 3 142,309,381 (GRCm39) missense probably benign 0.03
IGL01989:Gbp2b APN 3 142,317,201 (GRCm39) missense probably benign 0.19
IGL02019:Gbp2b APN 3 142,312,751 (GRCm39) missense possibly damaging 0.52
IGL02338:Gbp2b APN 3 142,309,987 (GRCm39) missense probably benign 0.09
IGL03148:Gbp2b APN 3 142,312,642 (GRCm39) missense probably benign 0.00
FR4304:Gbp2b UTSW 3 142,309,413 (GRCm39) missense probably benign 0.00
FR4340:Gbp2b UTSW 3 142,309,413 (GRCm39) missense probably benign 0.00
FR4342:Gbp2b UTSW 3 142,309,413 (GRCm39) missense probably benign 0.00
FR4589:Gbp2b UTSW 3 142,309,413 (GRCm39) missense probably benign 0.00
R0329:Gbp2b UTSW 3 142,313,937 (GRCm39) missense probably benign 0.01
R0345:Gbp2b UTSW 3 142,313,944 (GRCm39) missense probably damaging 1.00
R0358:Gbp2b UTSW 3 142,312,550 (GRCm39) missense probably damaging 1.00
R0732:Gbp2b UTSW 3 142,312,739 (GRCm39) missense probably benign
R1163:Gbp2b UTSW 3 142,304,857 (GRCm39) missense probably damaging 1.00
R1550:Gbp2b UTSW 3 142,312,591 (GRCm39) missense probably damaging 0.99
R1629:Gbp2b UTSW 3 142,316,735 (GRCm39) missense possibly damaging 0.93
R1886:Gbp2b UTSW 3 142,314,063 (GRCm39) missense probably benign
R1887:Gbp2b UTSW 3 142,314,063 (GRCm39) missense probably benign
R2188:Gbp2b UTSW 3 142,314,040 (GRCm39) missense probably benign 0.44
R2261:Gbp2b UTSW 3 142,312,496 (GRCm39) missense probably benign 0.00
R3977:Gbp2b UTSW 3 142,309,470 (GRCm39) missense probably benign 0.02
R4718:Gbp2b UTSW 3 142,304,756 (GRCm39) missense probably damaging 1.00
R4788:Gbp2b UTSW 3 142,317,171 (GRCm39) missense probably benign 0.21
R4807:Gbp2b UTSW 3 142,304,006 (GRCm39) missense probably benign 0.02
R5042:Gbp2b UTSW 3 142,317,224 (GRCm39) missense probably benign 0.03
R5087:Gbp2b UTSW 3 142,304,015 (GRCm39) missense probably damaging 1.00
R5114:Gbp2b UTSW 3 142,303,946 (GRCm39) missense probably damaging 1.00
R5414:Gbp2b UTSW 3 142,304,852 (GRCm39) missense probably damaging 1.00
R5567:Gbp2b UTSW 3 142,317,126 (GRCm39) missense possibly damaging 0.75
R5625:Gbp2b UTSW 3 142,304,806 (GRCm39) missense probably damaging 1.00
R5685:Gbp2b UTSW 3 142,313,919 (GRCm39) missense probably benign
R6030:Gbp2b UTSW 3 142,309,414 (GRCm39) missense probably benign 0.00
R6030:Gbp2b UTSW 3 142,309,414 (GRCm39) missense probably benign 0.00
R6408:Gbp2b UTSW 3 142,323,899 (GRCm39) missense probably benign 0.00
R6500:Gbp2b UTSW 3 142,317,252 (GRCm39) missense probably benign 0.06
R6581:Gbp2b UTSW 3 142,313,999 (GRCm39) nonsense probably null
R6582:Gbp2b UTSW 3 142,316,801 (GRCm39) missense possibly damaging 0.53
R6847:Gbp2b UTSW 3 142,303,940 (GRCm39) missense probably damaging 0.96
R6923:Gbp2b UTSW 3 142,306,320 (GRCm39) missense probably benign 0.01
R7120:Gbp2b UTSW 3 142,312,507 (GRCm39) missense probably benign 0.01
R7255:Gbp2b UTSW 3 142,313,878 (GRCm39) missense probably damaging 1.00
R7454:Gbp2b UTSW 3 142,303,920 (GRCm39) missense possibly damaging 0.75
R7643:Gbp2b UTSW 3 142,309,370 (GRCm39) missense probably benign 0.07
R8039:Gbp2b UTSW 3 142,323,925 (GRCm39) missense probably benign 0.02
R8312:Gbp2b UTSW 3 142,304,815 (GRCm39) missense probably damaging 0.96
R8312:Gbp2b UTSW 3 142,304,812 (GRCm39) missense probably benign
R8391:Gbp2b UTSW 3 142,309,894 (GRCm39) missense probably damaging 1.00
R8418:Gbp2b UTSW 3 142,309,466 (GRCm39) missense probably benign 0.01
R8721:Gbp2b UTSW 3 142,312,705 (GRCm39) missense possibly damaging 0.93
R8842:Gbp2b UTSW 3 142,312,576 (GRCm39) missense probably benign
R8849:Gbp2b UTSW 3 142,313,913 (GRCm39) missense probably benign 0.00
R8874:Gbp2b UTSW 3 142,314,040 (GRCm39) missense probably benign 0.03
R8896:Gbp2b UTSW 3 142,309,327 (GRCm39) missense probably damaging 1.00
R8992:Gbp2b UTSW 3 142,316,730 (GRCm39) missense probably benign 0.00
R9339:Gbp2b UTSW 3 142,317,178 (GRCm39) missense probably benign 0.01
R9752:Gbp2b UTSW 3 142,313,917 (GRCm39) missense probably benign 0.16
Z1177:Gbp2b UTSW 3 142,310,077 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16