Incidental Mutation 'R7643:Gbp2b'
ID 590338
Institutional Source Beutler Lab
Gene Symbol Gbp2b
Ensembl Gene ENSMUSG00000040264
Gene Name guanylate binding protein 2b
Synonyms Gbp1, Mpa1, Mag-1, Gbp-1, Mpa-1
MMRRC Submission 045700-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7643 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 142594847-142619179 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 142603609 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 160 (Q160H)
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: Q160H

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: Q160H

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik A G 16: 38,827,863 (GRCm38) Y295H probably benign Het
4931406C07Rik A G 9: 15,297,860 (GRCm38) F46S probably damaging Het
Acaca T C 11: 84,338,356 (GRCm38) Y1670H probably damaging Het
Acrbp G A 6: 125,053,832 (GRCm38) R272Q possibly damaging Het
Adcy6 T A 15: 98,593,568 (GRCm38) Q1050L probably benign Het
Amn1 C T 6: 149,185,031 (GRCm38) M44I probably benign Het
Ankrd13b A G 11: 77,473,085 (GRCm38) V395A probably benign Het
Ap3b2 T C 7: 81,477,072 (GRCm38) K310R probably benign Het
Bnc2 T C 4: 84,506,574 (GRCm38) D123G probably benign Het
Bst1 G A 5: 43,840,449 (GRCm38) M263I probably benign Het
Ccdc7a C T 8: 128,889,811 (GRCm38) G937E probably damaging Het
Cep290 A G 10: 100,537,553 (GRCm38) M1232V probably benign Het
Cfhr1 A G 1: 139,553,585 (GRCm38) Y186H possibly damaging Het
Dnah7c A T 1: 46,602,813 (GRCm38) H1203L probably benign Het
Emc7 A G 2: 112,455,279 (GRCm38) E71G probably benign Het
Exoc3l4 G A 12: 111,421,935 (GRCm38) probably benign Het
Fam83c A G 2: 155,831,004 (GRCm38) F278L possibly damaging Het
Gabpb2 C A 3: 95,200,225 (GRCm38) V180L probably benign Het
Gm19965 C G 1: 116,822,229 (GRCm38) Q547E unknown Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,713 (GRCm38) probably benign Het
Gon4l T A 3: 88,902,807 (GRCm38) D1774E probably damaging Het
Gpr15 A C 16: 58,717,816 (GRCm38) Y303* probably null Het
Greb1 T C 12: 16,711,996 (GRCm38) D461G probably damaging Het
Gria4 T C 9: 4,793,950 (GRCm38) N36S probably benign Het
Hacd1 T C 2: 14,044,791 (GRCm38) I119V probably damaging Het
Ing5 T A 1: 93,812,433 (GRCm38) D101E probably damaging Het
Irak4 T A 15: 94,558,828 (GRCm38) N297K probably benign Het
Itga7 A G 10: 128,953,501 (GRCm38) D971G probably benign Het
Klf5 A G 14: 99,313,178 (GRCm38) E397G possibly damaging Het
Krtap29-1 C T 11: 99,978,198 (GRCm38) G286S probably damaging Het
Lrp2bp A T 8: 46,020,527 (GRCm38) probably null Het
March4 T G 1: 72,447,220 (GRCm38) Q266H probably damaging Het
Med23 A G 10: 24,905,965 (GRCm38) T1056A probably benign Het
Megf11 T C 9: 64,706,632 (GRCm38) L1079P probably damaging Het
Mycbp2 G T 14: 103,346,265 (GRCm38) L85I probably benign Het
Nlgn2 G T 11: 69,827,885 (GRCm38) Q290K probably damaging Het
Nox4 A T 7: 87,323,754 (GRCm38) E323V probably damaging Het
Nup93 T C 8: 94,286,619 (GRCm38) probably null Het
Olfr298 C T 7: 86,489,568 (GRCm38) probably null Het
Olfr558 C T 7: 102,709,538 (GRCm38) T93I probably benign Het
Olfr977-ps1 T A 9: 39,974,821 (GRCm38) M1L unknown Het
Otop3 T C 11: 115,339,648 (GRCm38) L117P probably damaging Het
Pde6c C A 19: 38,141,421 (GRCm38) Q260K probably damaging Het
Plb1 C T 5: 32,247,557 (GRCm38) Q20* probably null Het
Qser1 A T 2: 104,786,977 (GRCm38) Y1163* probably null Het
Rbm12 A T 2: 156,098,217 (GRCm38) I45N unknown Het
Rictor T A 15: 6,769,269 (GRCm38) Y332* probably null Het
Rpp14 C A 14: 8,090,325 (GRCm38) S83* probably null Het
Sel1l3 C T 5: 53,123,162 (GRCm38) probably null Het
Setd2 T C 9: 110,567,840 (GRCm38) probably null Het
Spink5 A G 18: 44,010,252 (GRCm38) T759A probably benign Het
Spon2 T A 5: 33,217,456 (GRCm38) E2V probably benign Het
Tdrd1 T C 19: 56,837,708 (GRCm38) S144P probably damaging Het
Tex15 A C 8: 33,575,120 (GRCm38) Y1526S probably damaging Het
Tnfrsf21 T C 17: 43,037,916 (GRCm38) S140P probably benign Het
Trav6-2 T A 14: 52,667,442 (GRCm38) M11K probably benign Het
Trp53bp1 G T 2: 121,247,814 (GRCm38) probably null Het
Ttn T C 2: 76,734,827 (GRCm38) N28352S possibly damaging Het
Uckl1 T C 2: 181,573,106 (GRCm38) I292V probably benign Het
Unc13b T A 4: 43,216,333 (GRCm38) S211T probably benign Het
Zcchc4 T C 5: 52,808,293 (GRCm38) I313T possibly damaging Het
Zfp106 C T 2: 120,512,734 (GRCm38) R1811K probably benign Het
Zfp599 G T 9: 22,249,892 (GRCm38) Q326K probably benign Het
Zscan4e A T 7: 11,309,525 (GRCm38) M108K probably damaging Het
Other mutations in Gbp2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Gbp2b APN 3 142,598,312 (GRCm38) missense probably damaging 1.00
IGL01892:Gbp2b APN 3 142,603,620 (GRCm38) missense probably benign 0.03
IGL01989:Gbp2b APN 3 142,611,440 (GRCm38) missense probably benign 0.19
IGL02019:Gbp2b APN 3 142,606,990 (GRCm38) missense possibly damaging 0.52
IGL02338:Gbp2b APN 3 142,604,226 (GRCm38) missense probably benign 0.09
IGL02657:Gbp2b APN 3 142,604,112 (GRCm38) missense probably damaging 1.00
IGL03148:Gbp2b APN 3 142,606,881 (GRCm38) missense probably benign 0.00
FR4304:Gbp2b UTSW 3 142,603,652 (GRCm38) missense probably benign 0.00
FR4340:Gbp2b UTSW 3 142,603,652 (GRCm38) missense probably benign 0.00
FR4342:Gbp2b UTSW 3 142,603,652 (GRCm38) missense probably benign 0.00
FR4589:Gbp2b UTSW 3 142,603,652 (GRCm38) missense probably benign 0.00
R0329:Gbp2b UTSW 3 142,608,176 (GRCm38) missense probably benign 0.01
R0345:Gbp2b UTSW 3 142,608,183 (GRCm38) missense probably damaging 1.00
R0358:Gbp2b UTSW 3 142,606,789 (GRCm38) missense probably damaging 1.00
R0732:Gbp2b UTSW 3 142,606,978 (GRCm38) missense probably benign
R1163:Gbp2b UTSW 3 142,599,096 (GRCm38) missense probably damaging 1.00
R1550:Gbp2b UTSW 3 142,606,830 (GRCm38) missense probably damaging 0.99
R1629:Gbp2b UTSW 3 142,610,974 (GRCm38) missense possibly damaging 0.93
R1886:Gbp2b UTSW 3 142,608,302 (GRCm38) missense probably benign
R1887:Gbp2b UTSW 3 142,608,302 (GRCm38) missense probably benign
R2188:Gbp2b UTSW 3 142,608,279 (GRCm38) missense probably benign 0.44
R2261:Gbp2b UTSW 3 142,606,735 (GRCm38) missense probably benign 0.00
R3977:Gbp2b UTSW 3 142,603,709 (GRCm38) missense probably benign 0.02
R4718:Gbp2b UTSW 3 142,598,995 (GRCm38) missense probably damaging 1.00
R4788:Gbp2b UTSW 3 142,611,410 (GRCm38) missense probably benign 0.21
R4807:Gbp2b UTSW 3 142,598,245 (GRCm38) missense probably benign 0.02
R5042:Gbp2b UTSW 3 142,611,463 (GRCm38) missense probably benign 0.03
R5087:Gbp2b UTSW 3 142,598,254 (GRCm38) missense probably damaging 1.00
R5114:Gbp2b UTSW 3 142,598,185 (GRCm38) missense probably damaging 1.00
R5414:Gbp2b UTSW 3 142,599,091 (GRCm38) missense probably damaging 1.00
R5567:Gbp2b UTSW 3 142,611,365 (GRCm38) missense possibly damaging 0.75
R5625:Gbp2b UTSW 3 142,599,045 (GRCm38) missense probably damaging 1.00
R5685:Gbp2b UTSW 3 142,608,158 (GRCm38) missense probably benign
R6030:Gbp2b UTSW 3 142,603,653 (GRCm38) missense probably benign 0.00
R6030:Gbp2b UTSW 3 142,603,653 (GRCm38) missense probably benign 0.00
R6408:Gbp2b UTSW 3 142,618,138 (GRCm38) missense probably benign 0.00
R6500:Gbp2b UTSW 3 142,611,491 (GRCm38) missense probably benign 0.06
R6581:Gbp2b UTSW 3 142,608,238 (GRCm38) nonsense probably null
R6582:Gbp2b UTSW 3 142,611,040 (GRCm38) missense possibly damaging 0.53
R6847:Gbp2b UTSW 3 142,598,179 (GRCm38) missense probably damaging 0.96
R6923:Gbp2b UTSW 3 142,600,559 (GRCm38) missense probably benign 0.01
R7120:Gbp2b UTSW 3 142,606,746 (GRCm38) missense probably benign 0.01
R7255:Gbp2b UTSW 3 142,608,117 (GRCm38) missense probably damaging 1.00
R7454:Gbp2b UTSW 3 142,598,159 (GRCm38) missense possibly damaging 0.75
R8039:Gbp2b UTSW 3 142,618,164 (GRCm38) missense probably benign 0.02
R8312:Gbp2b UTSW 3 142,599,054 (GRCm38) missense probably damaging 0.96
R8312:Gbp2b UTSW 3 142,599,051 (GRCm38) missense probably benign
R8391:Gbp2b UTSW 3 142,604,133 (GRCm38) missense probably damaging 1.00
R8418:Gbp2b UTSW 3 142,603,705 (GRCm38) missense probably benign 0.01
R8721:Gbp2b UTSW 3 142,606,944 (GRCm38) missense possibly damaging 0.93
R8842:Gbp2b UTSW 3 142,606,815 (GRCm38) missense probably benign
R8849:Gbp2b UTSW 3 142,608,152 (GRCm38) missense probably benign 0.00
R8874:Gbp2b UTSW 3 142,608,279 (GRCm38) missense probably benign 0.03
R8896:Gbp2b UTSW 3 142,603,566 (GRCm38) missense probably damaging 1.00
R8992:Gbp2b UTSW 3 142,610,969 (GRCm38) missense probably benign 0.00
R9339:Gbp2b UTSW 3 142,611,417 (GRCm38) missense probably benign 0.01
R9752:Gbp2b UTSW 3 142,608,156 (GRCm38) missense probably benign 0.16
Z1177:Gbp2b UTSW 3 142,604,316 (GRCm38) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TTGTCCCAGGGAAAGTACATGATC -3'
(R):5'- TGATATCACAAACTTCCATTGAGCC -3'

Sequencing Primer
(F):5'- TCCCAGGGAAAGTACATGATCCATAG -3'
(R):5'- AAACTTCCATTGAGCCCATTTAC -3'
Posted On 2019-10-24