Incidental Mutation 'R7475:Gbp5'
ID 579398
Institutional Source Beutler Lab
Gene Symbol Gbp5
Ensembl Gene ENSMUSG00000105504
Gene Name guanylate binding protein 5
Synonyms 5330409J06Rik, Gbp5a
MMRRC Submission 045549-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7475 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 142202695-142228105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142207122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 97 (D97G)
Ref Sequence ENSEMBL: ENSMUSP00000143336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090127] [ENSMUST00000196255] [ENSMUST00000197459]
AlphaFold Q8CFB4
Predicted Effect probably damaging
Transcript: ENSMUST00000090127
AA Change: D97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: D97G

DomainStartEndE-ValueType
Pfam:GBP 18 281 4e-113 PFAM
Pfam:GBP_C 283 575 6e-109 PFAM
low complexity region 579 585 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196255
AA Change: D97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: D97G

DomainStartEndE-ValueType
Pfam:GBP 18 281 2.8e-113 PFAM
Pfam:GBP_C 283 556 5.5e-106 PFAM
internal_repeat_1 579 640 3.01e-21 PROSPERO
internal_repeat_1 647 708 3.01e-21 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000197459
SMART Domains Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504

DomainStartEndE-ValueType
Pfam:GBP 18 65 4.7e-16 PFAM
Pfam:GBP 63 169 4.8e-33 PFAM
Pfam:GBP_C 171 444 9.3e-104 PFAM
internal_repeat_1 467 528 5.89e-22 PROSPERO
internal_repeat_1 535 596 5.89e-22 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199578
Meta Mutation Damage Score 0.9057 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to Listeria infection and NLRP3 inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,739 (GRCm39) N214K probably benign Het
Abcf1 A G 17: 36,274,459 (GRCm39) probably null Het
Agxt2 A T 15: 10,409,623 (GRCm39) M508L probably benign Het
Akr1c21 A T 13: 4,626,318 (GRCm39) Y114F probably benign Het
Amz1 T C 5: 140,729,941 (GRCm39) probably null Het
Ank1 G T 8: 23,622,646 (GRCm39) A1732S probably benign Het
Atg16l1 T C 1: 87,687,805 (GRCm39) S50P possibly damaging Het
AW551984 A G 9: 39,509,236 (GRCm39) S302P probably damaging Het
Ccn6 T A 10: 39,034,296 (GRCm39) Y102F probably damaging Het
Ces3a T A 8: 105,780,322 (GRCm39) probably null Het
Dedd C A 1: 171,167,881 (GRCm39) P185Q probably benign Het
Fam186a A T 15: 99,845,395 (GRCm39) V283E unknown Het
Fat2 C A 11: 55,194,479 (GRCm39) V1187F probably benign Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fcgbp C T 7: 27,802,401 (GRCm39) T1443I probably damaging Het
Foxj2 A G 6: 122,814,801 (GRCm39) D279G probably benign Het
Gm49368 A T 7: 127,707,154 (GRCm39) T661S possibly damaging Het
Gria4 T G 9: 4,513,330 (GRCm39) T260P probably damaging Het
Gtf2ird2 T A 5: 134,230,267 (GRCm39) D195E possibly damaging Het
Hectd4 T A 5: 121,496,196 (GRCm39) probably null Het
Ifngr2 G A 16: 91,354,797 (GRCm39) C32Y unknown Het
Ikzf5 A T 7: 130,993,788 (GRCm39) C280S probably benign Het
Ints9 G T 14: 65,263,914 (GRCm39) E395D probably null Het
Isoc2b T C 7: 4,854,084 (GRCm39) D96G probably benign Het
Jmjd1c T G 10: 67,061,092 (GRCm39) S967R probably benign Het
Kcnj3 A T 2: 55,327,338 (GRCm39) K42N probably benign Het
Kiz T C 2: 146,733,006 (GRCm39) V394A possibly damaging Het
Knl1 A T 2: 118,918,027 (GRCm39) H1795L probably damaging Het
Lmntd2 A G 7: 140,790,602 (GRCm39) probably null Het
Loxhd1 C A 18: 77,500,001 (GRCm39) D1690E possibly damaging Het
Lrp1b T C 2: 41,234,588 (GRCm39) D1121G Het
Map3k2 T C 18: 32,333,015 (GRCm39) V63A possibly damaging Het
Mcc G T 18: 44,609,303 (GRCm39) A499D probably damaging Het
Mcpt9 T A 14: 56,264,400 (GRCm39) I232F probably damaging Het
Meltf A G 16: 31,700,756 (GRCm39) K92R probably benign Het
Mff T A 1: 82,723,159 (GRCm39) probably null Het
Mrgpra3 T A 7: 47,239,695 (GRCm39) Y77F probably damaging Het
Mylk G A 16: 34,734,446 (GRCm39) probably null Het
Ndufv2 A G 17: 66,394,532 (GRCm39) V111A possibly damaging Het
Nkd2 T C 13: 73,973,861 (GRCm39) E99G probably damaging Het
Nlk C A 11: 78,474,225 (GRCm39) G358V probably damaging Het
Nnmt A T 9: 48,503,532 (GRCm39) C165S probably damaging Het
Nxpe4 T A 9: 48,304,640 (GRCm39) C242* probably null Het
Oas1b A T 5: 120,955,705 (GRCm39) N162I probably damaging Het
Or4s2 A G 2: 88,473,554 (GRCm39) I148V probably benign Het
Otog A G 7: 45,916,700 (GRCm39) N879S probably damaging Het
Pcsk7 T A 9: 45,838,923 (GRCm39) Y612N probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pkhd1l1 C T 15: 44,368,581 (GRCm39) Q800* probably null Het
Pkn3 T C 2: 29,977,122 (GRCm39) S621P probably benign Het
Polr3c T C 3: 96,622,501 (GRCm39) I385V probably benign Het
Ppp1r21 G T 17: 88,863,031 (GRCm39) G257W probably benign Het
Prkn A G 17: 11,653,501 (GRCm39) D199G probably benign Het
Pxylp1 C T 9: 96,738,420 (GRCm39) probably null Het
Rasgrp1 T C 2: 117,116,589 (GRCm39) T613A probably benign Het
Robo3 C T 9: 37,336,674 (GRCm39) V387I probably benign Het
Rxfp2 T A 5: 149,973,046 (GRCm39) Y174N possibly damaging Het
Sec24a T C 11: 51,604,379 (GRCm39) M746V probably damaging Het
Sema4f T A 6: 82,891,355 (GRCm39) E571D possibly damaging Het
Septin3 T C 15: 82,170,657 (GRCm39) V217A probably benign Het
Serpinb1b A C 13: 33,277,548 (GRCm39) K260N probably benign Het
Sin3b A G 8: 73,476,500 (GRCm39) T645A possibly damaging Het
Sobp C T 10: 42,897,830 (GRCm39) R585Q probably damaging Het
Specc1l T A 10: 75,082,281 (GRCm39) L559Q possibly damaging Het
Srxn1 C T 2: 151,947,573 (GRCm39) probably benign Het
Sspo G A 6: 48,432,794 (GRCm39) R890Q probably benign Het
Stard9 A G 2: 120,518,591 (GRCm39) D505G probably damaging Het
Tjp1 A T 7: 64,972,087 (GRCm39) I653K probably damaging Het
Tnks C T 8: 35,298,866 (GRCm39) E1296K probably damaging Het
Ttbk2 A T 2: 120,579,121 (GRCm39) I667N probably benign Het
Usp24 T C 4: 106,199,550 (GRCm39) S165P possibly damaging Het
Usp46 T A 5: 74,189,598 (GRCm39) K109* probably null Het
Vmn1r191 A G 13: 22,362,942 (GRCm39) C271R probably benign Het
Zfp592 T C 7: 80,673,200 (GRCm39) S55P probably damaging Het
Zmynd15 T C 11: 70,351,867 (GRCm39) S158P probably benign Het
Zscan22 T G 7: 12,640,664 (GRCm39) C303G probably damaging Het
Other mutations in Gbp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Gbp5 APN 3 142,206,355 (GRCm39) missense probably damaging 1.00
IGL01625:Gbp5 APN 3 142,208,789 (GRCm39) missense probably damaging 0.98
IGL02294:Gbp5 APN 3 142,209,588 (GRCm39) missense probably damaging 1.00
PIT4362001:Gbp5 UTSW 3 142,206,471 (GRCm39) missense probably damaging 1.00
R0014:Gbp5 UTSW 3 142,212,496 (GRCm39) missense probably damaging 0.96
R0014:Gbp5 UTSW 3 142,212,496 (GRCm39) missense probably damaging 0.96
R0166:Gbp5 UTSW 3 142,212,680 (GRCm39) critical splice donor site probably null
R0357:Gbp5 UTSW 3 142,211,172 (GRCm39) missense probably benign 0.05
R0414:Gbp5 UTSW 3 142,213,674 (GRCm39) critical splice acceptor site probably null
R0457:Gbp5 UTSW 3 142,213,518 (GRCm39) missense probably damaging 1.00
R0959:Gbp5 UTSW 3 142,208,885 (GRCm39) missense possibly damaging 0.47
R1520:Gbp5 UTSW 3 142,213,775 (GRCm39) missense probably damaging 0.97
R2143:Gbp5 UTSW 3 142,209,593 (GRCm39) missense probably damaging 1.00
R2369:Gbp5 UTSW 3 142,206,480 (GRCm39) missense possibly damaging 0.54
R3155:Gbp5 UTSW 3 142,208,888 (GRCm39) critical splice donor site probably null
R4602:Gbp5 UTSW 3 142,209,546 (GRCm39) missense probably benign 0.06
R4770:Gbp5 UTSW 3 142,213,837 (GRCm39) missense possibly damaging 0.75
R5096:Gbp5 UTSW 3 142,207,122 (GRCm39) missense probably damaging 1.00
R5605:Gbp5 UTSW 3 142,207,037 (GRCm39) missense probably damaging 1.00
R7066:Gbp5 UTSW 3 142,213,490 (GRCm39) missense probably benign 0.00
R7234:Gbp5 UTSW 3 142,226,898 (GRCm39) missense probably benign 0.00
R7237:Gbp5 UTSW 3 142,213,461 (GRCm39) missense probably benign 0.41
R7258:Gbp5 UTSW 3 142,212,542 (GRCm39) missense probably damaging 1.00
R7521:Gbp5 UTSW 3 142,206,382 (GRCm39) missense probably benign 0.06
R7627:Gbp5 UTSW 3 142,206,319 (GRCm39) start codon destroyed probably null 1.00
R7788:Gbp5 UTSW 3 142,208,841 (GRCm39) missense probably damaging 1.00
R8077:Gbp5 UTSW 3 142,213,500 (GRCm39) missense probably benign 0.01
R8896:Gbp5 UTSW 3 142,211,308 (GRCm39) missense probably damaging 0.99
R8951:Gbp5 UTSW 3 142,206,481 (GRCm39) missense probably damaging 1.00
R9390:Gbp5 UTSW 3 142,208,783 (GRCm39) missense probably benign 0.00
R9758:Gbp5 UTSW 3 142,206,366 (GRCm39) missense probably benign
R9761:Gbp5 UTSW 3 142,213,518 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCATGTGCACTGTCTTGTC -3'
(R):5'- AGCTCTATTTAAAAGTGGGGAGAA -3'

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