Incidental Mutation 'R8418:Gbp2b'
ID 653025
Institutional Source Beutler Lab
Gene Symbol Gbp2b
Ensembl Gene ENSMUSG00000040264
Gene Name guanylate binding protein 2b
Synonyms Mag-1, Mpa-1, Mpa1, Gbp-1, Gbp1
MMRRC Submission 067897-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8418 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 142300608-142324940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142309466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 192 (E192D)
Ref Sequence ENSEMBL: ENSMUSP00000029936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029936]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029936
AA Change: E192D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: E192D

DomainStartEndE-ValueType
Pfam:GBP 18 280 4.1e-122 PFAM
Pfam:GBP_C 282 578 5.5e-125 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T C 17: 43,021,477 (GRCm39) H449R probably benign Het
Arfgef2 T C 2: 166,698,468 (GRCm39) V646A probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc62 C T 5: 124,084,455 (GRCm39) R279* probably null Het
Cimip2b A G 4: 43,427,204 (GRCm39) L76P unknown Het
Col6a5 G T 9: 105,755,821 (GRCm39) P2201Q probably damaging Het
Cpa3 T C 3: 20,276,315 (GRCm39) Y306C probably damaging Het
Cpne9 A G 6: 113,260,398 (GRCm39) N82D possibly damaging Het
Dcaf17 T A 2: 70,918,717 (GRCm39) D430E probably damaging Het
Dcst2 T C 3: 89,278,901 (GRCm39) V546A probably benign Het
Dennd1a T C 2: 37,748,403 (GRCm39) T359A probably benign Het
Dgkb C A 12: 38,380,016 (GRCm39) H591N probably damaging Het
Dnah17 G A 11: 117,994,284 (GRCm39) S1047F probably benign Het
Dock2 A G 11: 34,609,795 (GRCm39) I215T probably benign Het
Efcab12 A G 6: 115,799,076 (GRCm39) probably null Het
Erich3 C T 3: 154,415,378 (GRCm39) R165C Het
Gabrr1 C T 4: 33,162,615 (GRCm39) R394* probably null Het
Garnl3 G T 2: 32,942,158 (GRCm39) Q153K possibly damaging Het
Gars1 A G 6: 55,042,446 (GRCm39) N393S probably damaging Het
Gm28360 A T 1: 117,781,357 (GRCm39) H116L probably benign Het
Gm9602 T A 14: 15,935,348 (GRCm39) probably benign Het
Gp1bb T A 16: 18,440,103 (GRCm39) H5L unknown Het
Grik3 A G 4: 125,579,835 (GRCm39) K527E possibly damaging Het
Hhip T C 8: 80,771,714 (GRCm39) M199V probably damaging Het
Irgm1 A G 11: 48,757,166 (GRCm39) V231A probably damaging Het
Itgal A T 7: 126,929,454 (GRCm39) I1124F probably benign Het
Kash5 A G 7: 44,843,501 (GRCm39) L241P probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Miga1 T G 3: 151,990,954 (GRCm39) Y433S probably damaging Het
Muc16 A T 9: 18,430,926 (GRCm39) I8062K possibly damaging Het
Ntsr2 T G 12: 16,706,662 (GRCm39) V230G possibly damaging Het
Or52ab2 A G 7: 102,970,278 (GRCm39) Y220C Het
Ptpn2 G A 18: 67,814,592 (GRCm39) T139M probably damaging Het
Pum2 T A 12: 8,760,245 (GRCm39) D145E possibly damaging Het
Radil T C 5: 142,480,676 (GRCm39) E593G probably benign Het
Rdh14 T C 12: 10,444,580 (GRCm39) F144L probably damaging Het
Sec23ip T G 7: 128,380,187 (GRCm39) D867E probably damaging Het
Serpina6 T C 12: 103,613,187 (GRCm39) Y371C probably damaging Het
Snx13 T A 12: 35,148,233 (GRCm39) I254N probably damaging Het
Tacc1 T C 8: 25,731,532 (GRCm39) K7E probably damaging Het
Thoc2l C A 5: 104,667,724 (GRCm39) Q749K possibly damaging Het
Timeless A C 10: 128,086,605 (GRCm39) N1048T probably benign Het
Tll2 C A 19: 41,081,276 (GRCm39) E732D probably damaging Het
Tmem171 A G 13: 98,828,740 (GRCm39) S137P probably damaging Het
Ttll3 A T 6: 113,371,734 (GRCm39) M44L probably benign Het
Vmn2r29 T A 7: 7,244,939 (GRCm39) I312L probably benign Het
Vmn2r43 A T 7: 8,258,583 (GRCm39) L210* probably null Het
Vmn2r60 A G 7: 41,844,850 (GRCm39) I738V probably damaging Het
Zfp977 T A 7: 42,229,410 (GRCm39) M372L probably benign 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
IGL02657:Gbp2b APN 3 142,309,873 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGTTTTCTTAACTTCACATGCCAGC -3'
(R):5'- ACAAGCCCTCTGAGAAGCTG -3'

Sequencing Primer
(F):5'- TTCACATGCCAGCTATGTGACAG -3'
(R):5'- CCCTCTGAGAAGCTGTGGATG -3'
Posted On 2020-10-20