Incidental Mutation 'R6847:Gbp2b'
ID 534799
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 045021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6847 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 142300608-142324940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142303940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 12 (C12S)
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: C12S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: C12S

DomainStartEndE-ValueType
Pfam:GBP 18 280 4.1e-122 PFAM
Pfam:GBP_C 282 578 5.5e-125 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,021,465 (GRCm39) I675T probably benign Het
Adgrb3 A T 1: 25,133,003 (GRCm39) M1121K probably benign Het
Ak9 A G 10: 41,233,797 (GRCm39) probably null Het
Akr1c6 T A 13: 4,488,497 (GRCm39) C34* probably null Het
Akt3 G A 1: 176,859,225 (GRCm39) P449S probably damaging Het
Atg2b A T 12: 105,602,047 (GRCm39) V1643E probably damaging Het
Atp2c1 T C 9: 105,295,778 (GRCm39) I819V probably damaging Het
Casp3 C T 8: 47,089,301 (GRCm39) A183V probably benign Het
Cdk1 A T 10: 69,174,358 (GRCm39) D288E probably benign Het
Cep131 G A 11: 119,956,517 (GRCm39) R944W probably damaging Het
Cep290 A G 10: 100,399,281 (GRCm39) K2268E probably damaging Het
Crybg2 A G 4: 133,792,857 (GRCm39) E164G probably benign Het
Cubn A C 2: 13,449,064 (GRCm39) probably null Het
Dnajc14 A T 10: 128,652,656 (GRCm39) E571D possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eef1b2 A G 1: 63,217,648 (GRCm39) E44G probably benign Het
Eml6 C T 11: 29,768,447 (GRCm39) V747I probably benign Het
Ext1 T G 15: 53,208,550 (GRCm39) Q70H probably benign Het
Gbp8 A C 5: 105,179,093 (GRCm39) D135E probably benign Het
Gm12886 A T 4: 121,273,916 (GRCm39) L100* probably null Het
Gpatch1 A T 7: 34,992,983 (GRCm39) probably null Het
Ifit3b A T 19: 34,588,925 (GRCm39) M34L probably benign Het
Il12a G T 3: 68,602,899 (GRCm39) D160Y probably damaging Het
Klhl2 A G 8: 65,212,816 (GRCm39) L241P probably damaging Het
Krt80 T C 15: 101,256,610 (GRCm39) E195G probably benign Het
Lgi1 T C 19: 38,289,738 (GRCm39) V268A probably damaging Het
Lrrfip1 A T 1: 91,032,850 (GRCm39) D216V probably damaging Het
Meis3 A G 7: 15,917,789 (GRCm39) N314S probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A T 16: 48,965,451 (GRCm39) I1119F possibly damaging Het
Nav2 A T 7: 49,141,204 (GRCm39) Q916H probably benign Het
Ncam2 A T 16: 81,229,606 (GRCm39) Q22L probably damaging Het
Or5b118 A T 19: 13,448,402 (GRCm39) I23F probably benign Het
P2rx4 G A 5: 122,865,814 (GRCm39) V329M probably damaging Het
Peg10 A G 6: 4,754,279 (GRCm39) probably benign Het
Pgp T C 17: 24,690,375 (GRCm39) L267P probably damaging Het
Pou2af2 G A 9: 51,201,504 (GRCm39) T184M probably damaging Het
Prdm2 A C 4: 142,859,520 (GRCm39) S1257A probably benign Het
Prr12 T C 7: 44,695,164 (GRCm39) N1434S unknown Het
Psmc3ip A T 11: 100,985,999 (GRCm39) H40Q probably damaging Het
Ptprc A T 1: 138,016,283 (GRCm39) N526K probably damaging Het
Sec63 T A 10: 42,667,249 (GRCm39) D138E probably damaging Het
Serpinb13 A G 1: 106,926,663 (GRCm39) N220D probably benign Het
Siva1 G A 12: 112,611,344 (GRCm39) probably benign Het
Slc39a12 A G 2: 14,454,728 (GRCm39) H546R probably damaging Het
Slc7a1 G A 5: 148,271,468 (GRCm39) A497V probably benign Het
Smg5 G T 3: 88,249,859 (GRCm39) K95N probably damaging Het
Speer1a G A 5: 11,394,134 (GRCm39) V78M probably damaging Het
Traj50 T A 14: 54,405,101 (GRCm39) probably benign Het
Ubr3 T C 2: 69,813,472 (GRCm39) V1261A probably damaging Het
Zc3h11a A T 1: 133,566,700 (GRCm39) probably null 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
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'- TGTGTGCTGCTATTGTACCC -3'
(R):5'- TCAGAAATGCAAGTCCACTGATG -3'

Sequencing Primer
(F):5'- CCCTCTGGTTTATAACAGAATGC -3'
(R):5'- AGCAGAGCTCTCCTGGTAGAAC -3'
Posted On 2018-09-12