Incidental Mutation 'R1629:Gbp2b'
ID 172663
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 039666-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1629 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 142300608-142324940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142316735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 462 (Y462C)
Ref Sequence ENSEMBL: ENSMUSP00000029936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029936]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029936
AA Change: Y462C

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: Y462C

DomainStartEndE-ValueType
Pfam:GBP 18 280 4.1e-122 PFAM
Pfam:GBP_C 282 578 5.5e-125 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A C 18: 59,087,691 (GRCm39) I574L probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
BC005624 T C 2: 30,864,020 (GRCm39) E191G probably damaging Het
Cbx2 A G 11: 118,919,806 (GRCm39) D457G probably damaging Het
Ccdc110 A G 8: 46,395,164 (GRCm39) K352E probably benign Het
Cdk14 A T 5: 5,153,807 (GRCm39) H183Q probably benign Het
Cfap58 A G 19: 47,929,778 (GRCm39) T80A probably benign Het
Cftr C T 6: 18,226,105 (GRCm39) T351I probably damaging Het
Col27a1 A G 4: 63,248,100 (GRCm39) probably benign Het
Cp T A 3: 20,020,614 (GRCm39) probably null Het
Cpne8 A T 15: 90,456,175 (GRCm39) V196E probably benign Het
Dmxl1 T G 18: 49,992,353 (GRCm39) probably null Het
Dnm2 T A 9: 21,415,754 (GRCm39) L642Q probably damaging Het
Dock2 G T 11: 34,212,480 (GRCm39) probably null Het
Dock9 A G 14: 121,780,986 (GRCm39) F2091L possibly damaging Het
Eaf2 A G 16: 36,645,063 (GRCm39) V53A probably damaging Het
Fbl G T 7: 27,874,212 (GRCm39) probably benign Het
Fbn2 T C 18: 58,159,610 (GRCm39) D2373G probably damaging Het
Il1rl2 T A 1: 40,396,020 (GRCm39) F348I probably benign Het
Khdc1a T A 1: 21,421,121 (GRCm39) I102N possibly damaging Het
Klhl11 T C 11: 100,355,012 (GRCm39) T270A probably benign Het
Lama1 T C 17: 68,112,423 (GRCm39) S2288P probably benign Het
Lrfn4 T C 19: 4,663,523 (GRCm39) E337G possibly damaging Het
Macf1 C A 4: 123,402,208 (GRCm39) E549* probably null Het
Mmp3 G T 9: 7,447,641 (GRCm39) V209F probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh9 G A 15: 77,648,601 (GRCm39) R1725W probably damaging Het
Nbea A T 3: 55,910,312 (GRCm39) D1294E possibly damaging Het
Nrcam G A 12: 44,610,769 (GRCm39) A496T probably benign Het
Nufip2 A G 11: 77,583,834 (GRCm39) T583A probably benign Het
Or5m3b A G 2: 85,871,766 (GRCm39) T36A probably damaging Het
Ppig C A 2: 69,566,217 (GRCm39) T128K probably damaging Het
Ppp2r2a A T 14: 67,257,208 (GRCm39) C341S possibly damaging Het
Ptpre A T 7: 135,271,528 (GRCm39) D374V probably damaging Het
Ranbp3l A C 15: 9,065,068 (GRCm39) Q485P probably damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Slc1a7 A G 4: 107,865,340 (GRCm39) Y276C probably damaging Het
Smarcad1 A G 6: 65,044,091 (GRCm39) D221G probably benign Het
Smn1 C A 13: 100,264,404 (GRCm39) T45N probably damaging Het
Son T C 16: 91,454,510 (GRCm39) S1086P probably damaging Het
Ssmem1 T A 6: 30,512,491 (GRCm39) Y45N possibly damaging Het
Tasor2 T C 13: 3,624,121 (GRCm39) H1943R possibly damaging Het
Tmem184c A C 8: 78,329,551 (GRCm39) F170V possibly damaging Het
Tmem184c A T 8: 78,332,791 (GRCm39) probably null Het
Vmn1r59 C T 7: 5,457,466 (GRCm39) C98Y probably damaging Het
Vmn2r23 T A 6: 123,690,386 (GRCm39) S421T probably benign Het
Vmn2r98 T C 17: 19,287,645 (GRCm39) S493P possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- AATGATTGGCTCTGGAAGGGGACC -3'
(R):5'- CAGCCACCATGAAGCTAAGAGTGAC -3'

Sequencing Primer
(F):5'- CTCTGGAAGGGGACCTCAAG -3'
(R):5'- CACCATGAAGCTAAGAGTGACATTTG -3'
Posted On 2014-04-24