Incidental Mutation 'R7454:Gbp2b'
ID 577971
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 045528-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7454 (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 142303920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 5 (I5N)
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: I5N

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: I5N

DomainStartEndE-ValueType
Pfam:GBP 18 280 4.1e-122 PFAM
Pfam:GBP_C 282 578 5.5e-125 PFAM
Meta Mutation Damage Score 0.2357 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (90/90)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510002D24Rik A G 16: 18,655,601 (GRCm39) E57G possibly damaging Het
4932414N04Rik C A 2: 68,518,648 (GRCm39) T159K unknown Het
Adamts10 T A 17: 33,763,979 (GRCm39) F616L possibly damaging Het
Adtrp G A 13: 41,981,791 (GRCm39) S26L unknown Het
Alpk3 A C 7: 80,728,310 (GRCm39) E480A probably benign Het
Anks6 T C 4: 47,038,919 (GRCm39) T529A unknown Het
Arl4d A G 11: 101,557,486 (GRCm39) H4R probably benign Het
Ash1l A G 3: 88,891,172 (GRCm39) H1017R probably benign Het
Bbs12 T C 3: 37,375,102 (GRCm39) S517P possibly damaging Het
Bcl11b C A 12: 107,882,467 (GRCm39) R616L possibly damaging Het
Bean1 G A 8: 104,937,658 (GRCm39) G79D probably damaging Het
Bicra C G 7: 15,706,059 (GRCm39) G1461R probably benign Het
Bptf T C 11: 106,935,466 (GRCm39) T124A probably benign Het
Btnl4 A T 17: 34,691,348 (GRCm39) V312E probably benign Het
Ccdc7a A G 8: 129,670,997 (GRCm39) M503T unknown Het
Celf5 T C 10: 81,318,357 (GRCm39) E28G probably damaging Het
Cilp2 G A 8: 70,336,040 (GRCm39) L350F probably damaging Het
Clec4a2 T C 6: 123,119,411 (GRCm39) I245T probably damaging Het
Ctnnal1 A T 4: 56,844,544 (GRCm39) V140D probably damaging Het
Dennd4a A C 9: 64,759,852 (GRCm39) H319P probably damaging Het
Dlgap3 G T 4: 127,128,852 (GRCm39) L857F probably null Het
Dnah6 T A 6: 73,189,475 (GRCm39) T58S probably damaging Het
Dnah7a T A 1: 53,557,923 (GRCm39) M2164L probably benign Het
Dspp T A 5: 104,323,476 (GRCm39) H206Q probably benign Het
Dzip1l G A 9: 99,541,727 (GRCm39) V443M possibly damaging Het
Erc2 A G 14: 28,024,948 (GRCm39) H939R possibly damaging Het
Fam149a G T 8: 45,801,583 (GRCm39) H513N probably benign Het
Fam171a2 T C 11: 102,330,543 (GRCm39) T280A possibly damaging Het
Fkbp5 A C 17: 28,634,999 (GRCm39) V170G probably damaging Het
Fnbp4 ACCACCTCCACCTCCACCTCC ACCACCTCCACCTCCACCTCCACCTCC 2: 90,608,159 (GRCm39) probably benign Het
Fzd2 T C 11: 102,495,955 (GRCm39) F133S probably damaging Het
Galm A G 17: 80,445,550 (GRCm39) N100S possibly damaging Het
Gga2 T C 7: 121,601,369 (GRCm39) R245G probably benign Het
Gm10053 A G 19: 24,853,264 (GRCm39) T50A probably benign Het
Gm1110 T C 9: 26,831,945 (GRCm39) T69A probably benign Het
Heatr5a T C 12: 52,008,326 (GRCm39) S6G probably benign Het
Hmcn1 A G 1: 150,439,355 (GRCm39) S5610P probably damaging Het
Hmgb4 A G 4: 128,154,199 (GRCm39) V123A probably damaging Het
Itgal C A 7: 126,926,936 (GRCm39) Q943K probably benign Het
Jakmip1 C A 5: 37,332,498 (GRCm39) D1059E probably damaging Het
Jazf1 T C 6: 52,870,929 (GRCm39) probably null Het
Kat6a A G 8: 23,425,788 (GRCm39) E1111G possibly damaging Het
Kdm4b C A 17: 56,696,639 (GRCm39) P452T probably benign Het
Krit1 T C 5: 3,862,474 (GRCm39) Y210H probably damaging Het
Krtap6-2 A T 16: 89,216,800 (GRCm39) Y56N unknown Het
Lig1 A T 7: 13,022,647 (GRCm39) D158V probably damaging Het
Lmo1 A T 7: 108,739,873 (GRCm39) L94Q probably benign Het
Lrrc30 A T 17: 67,939,238 (GRCm39) L114H probably damaging Het
Ltn1 T C 16: 87,194,700 (GRCm39) I1400V probably benign Het
Mark3 T C 12: 111,570,961 (GRCm39) I87T probably damaging Het
Mfrp G T 9: 44,016,480 (GRCm39) V392F possibly damaging Het
Mrgprg A G 7: 143,318,872 (GRCm39) L80P probably damaging Het
Ndufaf3 A T 9: 108,444,125 (GRCm39) M1K probably null Het
Nme7 T A 1: 164,208,217 (GRCm39) L295* probably null Het
Noct G T 3: 51,157,151 (GRCm39) C163F probably damaging Het
Or11h4b T A 14: 50,918,281 (GRCm39) Q270L possibly damaging Het
Or13a26 A T 7: 140,284,547 (GRCm39) I128F probably damaging Het
Or4b1 T A 2: 89,979,763 (GRCm39) I196F possibly damaging Het
Or5ak22 T A 2: 85,229,955 (GRCm39) K307N probably damaging Het
Or6c203 T A 10: 129,010,324 (GRCm39) T189S probably damaging Het
Or8g2 A G 9: 39,821,200 (GRCm39) I34V probably benign Het
Patz1 C T 11: 3,248,297 (GRCm39) probably benign Het
Per3 A G 4: 151,097,185 (GRCm39) L780P probably benign Het
Pira1 T G 7: 3,738,509 (GRCm39) E622D probably benign Het
Pla2g4a T C 1: 149,748,441 (GRCm39) M256V possibly damaging Het
Pnliprp1 A G 19: 58,729,532 (GRCm39) K395R probably benign Het
Poc5 G T 13: 96,537,340 (GRCm39) G242V possibly damaging Het
Ppfia4 A G 1: 134,251,873 (GRCm39) S434P possibly damaging Het
Prss42 A G 9: 110,627,897 (GRCm39) N110S probably benign Het
Ralgapb T A 2: 158,274,822 (GRCm39) I241N possibly damaging Het
Rbak A C 5: 143,159,528 (GRCm39) Y508* probably null Het
S1pr2 G T 9: 20,878,845 (GRCm39) R328S possibly damaging Het
Sap130 T C 18: 31,783,565 (GRCm39) M214T probably benign Het
Slc46a1 T A 11: 78,357,337 (GRCm39) V130E probably damaging Het
Smc4 A T 3: 68,925,457 (GRCm39) H343L probably benign Het
Tarbp1 C A 8: 127,184,416 (GRCm39) R500L probably benign Het
Tasor2 A G 13: 3,635,332 (GRCm39) S492P probably benign Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Tpp2 T C 1: 43,993,819 (GRCm39) S235P probably benign Het
Trbc2 G T 6: 41,523,763 (GRCm39) R33M Het
Trim3 C T 7: 105,268,765 (GRCm39) R63Q probably damaging Het
Ttc28 T C 5: 111,433,350 (GRCm39) V2128A probably benign Het
Ttn C T 2: 76,556,162 (GRCm39) R30281H probably damaging Het
Ttn T A 2: 76,774,483 (GRCm39) Q2187L unknown Het
Ttyh3 T C 5: 140,615,180 (GRCm39) S403G possibly damaging Het
Vmn2r112 A T 17: 22,822,288 (GRCm39) D322V probably benign Het
Wdr38 C T 2: 38,888,352 (GRCm39) probably benign Het
Xrn1 T A 9: 95,930,411 (GRCm39) S1543R probably benign Het
Zbtb8b G A 4: 129,326,562 (GRCm39) T201I 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
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
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'- CCCATGGCCTTACTAACTTCAGG -3'
(R):5'- CAGAGCTCTCCTGGTAGAACTC -3'

Sequencing Primer
(F):5'- AACTTCAGGTAGTTAGTTGGGTTCCC -3'
(R):5'- GGTAGAACTCACCCTTCTGC -3'
Posted On 2019-10-07