Incidental Mutation 'R0345:Gbp2b'
ID 38374
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 038552-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0345 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 142300608-142324940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142313944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 408 (L408S)
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: L408S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: L408S

DomainStartEndE-ValueType
Pfam:GBP 18 280 4.1e-122 PFAM
Pfam:GBP_C 282 578 5.5e-125 PFAM
Meta Mutation Damage Score 0.4688 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,377,079 (GRCm39) N105D possibly damaging Het
A2m T C 6: 121,615,231 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,415,198 (GRCm39) N641S probably damaging Het
Aff4 T A 11: 53,263,708 (GRCm39) S243T probably benign Het
Agap2 A G 10: 126,923,764 (GRCm39) H713R unknown Het
Ap2a2 T A 7: 141,211,206 (GRCm39) M914K probably damaging Het
Bcl7c A T 7: 127,307,635 (GRCm39) M22K possibly damaging Het
Cacna1i A T 15: 80,256,663 (GRCm39) D1019V probably damaging Het
Cd7 T C 11: 120,929,012 (GRCm39) T80A probably benign Het
Chia1 T C 3: 106,029,755 (GRCm39) Y130H probably damaging Het
Chmp6 T C 11: 119,808,872 (GRCm39) probably benign Het
Chrnb4 A G 9: 54,942,878 (GRCm39) V132A probably benign Het
Ctnna3 A G 10: 63,402,619 (GRCm39) D110G probably benign Het
Cyp2d37-ps A T 15: 82,573,975 (GRCm39) noncoding transcript Het
Dnah6 T C 6: 72,998,240 (GRCm39) M4061V probably benign Het
Dydc2 C A 14: 40,783,903 (GRCm39) M73I probably benign Het
Egflam G T 15: 7,319,475 (GRCm39) probably null Het
Fam228b C T 12: 4,798,351 (GRCm39) V151I possibly damaging Het
Fanca C T 8: 124,031,552 (GRCm39) V380I probably damaging Het
Kcnh4 T C 11: 100,648,507 (GRCm39) S66G probably benign Het
Kcnq3 A T 15: 65,892,154 (GRCm39) V407D possibly damaging Het
Kif24 A T 4: 41,428,413 (GRCm39) D182E probably benign Het
Llgl2 A G 11: 115,740,818 (GRCm39) probably benign Het
Lmo7 T A 14: 102,114,313 (GRCm39) N140K probably damaging Het
Myo5c A G 9: 75,204,701 (GRCm39) E1518G probably damaging Het
Myof A T 19: 38,012,793 (GRCm39) N47K probably damaging Het
Nckap1 G T 2: 80,375,321 (GRCm39) probably benign Het
Nlrp1a C A 11: 71,014,501 (GRCm39) G250W probably damaging Het
Nol4l T A 2: 153,253,672 (GRCm39) S390C probably benign Het
Or2ag2b T C 7: 106,417,908 (GRCm39) F206S probably benign Het
Or52e18 T A 7: 104,609,388 (GRCm39) M184L probably damaging Het
Or5ak22 T C 2: 85,230,685 (GRCm39) Q64R possibly damaging Het
Or5h26 G A 16: 58,988,269 (GRCm39) P79L possibly damaging Het
Plec G T 15: 76,061,367 (GRCm39) P2886T probably damaging Het
Prdm16 T C 4: 154,425,568 (GRCm39) Y738C probably benign Het
Ptprz1 A G 6: 23,016,164 (GRCm39) Y820C probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sgce G A 6: 4,718,019 (GRCm39) P98S probably damaging Het
Siglecf T C 7: 43,001,368 (GRCm39) F112S probably damaging Het
Slc6a16 C T 7: 44,908,672 (GRCm39) A84V possibly damaging Het
Sntb2 T C 8: 107,728,170 (GRCm39) S373P probably damaging Het
Sorcs2 C T 5: 36,185,218 (GRCm39) V953I probably benign Het
Spata31f1a T C 4: 42,851,116 (GRCm39) I347V probably benign Het
St7l T C 3: 104,803,125 (GRCm39) probably benign Het
Stap2 A G 17: 56,307,097 (GRCm39) V217A probably damaging Het
Stxbp5l A T 16: 37,108,670 (GRCm39) D215E probably damaging Het
Synm C T 7: 67,385,569 (GRCm39) V256I probably benign Het
Syt13 A C 2: 92,776,412 (GRCm39) E233A possibly damaging Het
Tecta T A 9: 42,295,514 (GRCm39) E327V probably damaging Het
Tent5b A T 4: 133,213,522 (GRCm39) Q131L probably benign Het
Themis3 A T 17: 66,866,540 (GRCm39) probably null Het
Ttll13 T A 7: 79,897,084 (GRCm39) D14E probably benign Het
Tubb2a A C 13: 34,260,620 (GRCm39) D26E probably benign Het
Ubr1 T C 2: 120,734,584 (GRCm39) probably null Het
Vps13d A T 4: 144,844,195 (GRCm39) V2537E possibly damaging Het
Zscan10 T A 17: 23,829,056 (GRCm39) F456I probably damaging Het
Zyg11b A G 4: 108,123,604 (GRCm39) I121T 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
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
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
Predicted Primers PCR Primer
(F):5'- GGAGCCTGTGTAACTCTAGCCTTTG -3'
(R):5'- GCTTCCTTGCAGTCACTGACATTTG -3'

Sequencing Primer
(F):5'- TCACTTTCTAAGTCAGGAAGGG -3'
(R):5'- GTGGAGATTCTACACTGAGCACC -3'
Posted On 2013-05-23