Mutagenetix > Incidental Mutation

Incidental Mutation 'R9758:Gbp5'

732837

Institutional Source

Beutler Lab

Gene Symbol

Gbp5

Ensembl Gene

ENSMUSG00000105504

Gene Name

guanylate binding protein 5

Synonyms

5330409J06Rik, Gbp5a

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142202695-142228105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142206366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 17 (T17A)

Ref Sequence

ENSEMBL: ENSMUSP00000087587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090127] [ENSMUST00000196255] [ENSMUST00000197459]

AlphaFold

Q8CFB4

Predicted Effect

probably benign
Transcript: ENSMUST00000090127
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: T17A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000196255
AA Change: T17A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: T17A

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000197459
AA Change: T17A

SMART Domains

Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504
AA Change: T17A

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,879,799 (GRCm39)	Y220C	probably damaging	Het
Actmap	T	C	7: 26,896,655 (GRCm39)	S73P	possibly damaging	Het
Bmper	G	A	9: 23,286,902 (GRCm39)	G276D	possibly damaging	Het
C2cd5	A	T	6: 142,984,613 (GRCm39)	M549K	probably benign	Het
Caprin1	A	G	2: 103,606,283 (GRCm39)	V319A	possibly damaging	Het
Cchcr1	G	A	17: 35,839,285 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,265,783 (GRCm39)	V1383E	possibly damaging	Het
Cep350	T	C	1: 155,770,433 (GRCm39)	E1819G	probably damaging	Het
Ces4a	A	G	8: 105,869,054 (GRCm39)	E163G	possibly damaging	Het
Chrnd	C	T	1: 87,118,792 (GRCm39)	R50*	probably null	Het
Cntn3	A	G	6: 102,183,511 (GRCm39)	S715P	probably damaging	Het
Creb1	A	T	1: 64,598,909 (GRCm39)	R95S	probably benign	Het
Ctdp1	T	C	18: 80,492,710 (GRCm39)	Y595C	probably damaging	Het
Cts7	C	T	13: 61,504,223 (GRCm39)	E86K	probably damaging	Het
Dazap1	A	G	10: 80,113,440 (GRCm39)	N113S	unknown	Het
Dhdds	T	C	4: 133,727,706 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,554,938 (GRCm39)	S998P	probably damaging	Het
Dnah1	T	C	14: 30,985,395 (GRCm39)	D3832G	probably damaging	Het
Drd1	A	G	13: 54,207,182 (GRCm39)	L344P	probably damaging	Het
Fam135b	G	A	15: 71,324,199 (GRCm39)	T1256I	probably benign	Het
Fam234a	A	T	17: 26,432,627 (GRCm39)	D507E	probably benign	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Foxd4	A	T	19: 24,877,670 (GRCm39)	W177R	probably damaging	Het
Fyb2	A	G	4: 104,802,961 (GRCm39)	S288G	probably benign	Het
Gadl1	A	G	9: 115,789,519 (GRCm39)	H275R	probably benign	Het
Gm1110	A	T	9: 26,800,894 (GRCm39)	Y433*	probably null	Het
Gm6408	C	A	5: 146,420,628 (GRCm39)	D169E	probably benign	Het
Gramd2b	T	A	18: 56,611,972 (GRCm39)	V145E	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hcn1	GCA	GCAACA	13: 118,112,305 (GRCm39)		probably benign	Het
Hif1an	G	A	19: 44,558,378 (GRCm39)	V293M	probably damaging	Het
Hyal3	A	G	9: 107,462,347 (GRCm39)	D127G	probably damaging	Het
Ighg1	T	A	12: 113,293,252 (GRCm39)	D146V	possibly damaging	Het
Iws1	T	A	18: 32,216,347 (GRCm39)	D362E	probably damaging	Het
Kif21b	G	A	1: 136,080,961 (GRCm39)	E601K	probably damaging	Het
Kndc1	C	A	7: 139,500,620 (GRCm39)	P662T	possibly damaging	Het
Krtap13-1	C	T	16: 88,526,229 (GRCm39)	T151I	probably benign	Het
Ndufa10	A	T	1: 92,379,752 (GRCm39)	I327N	probably benign	Het
Or10ag53	A	G	2: 87,082,439 (GRCm39)	I53V	possibly damaging	Het
Or10z1	A	G	1: 174,077,902 (GRCm39)	L197P	probably damaging	Het
Pcdhb14	T	C	18: 37,582,040 (GRCm39)	V382A	probably benign	Het
Pex1	A	T	5: 3,685,876 (GRCm39)	I1206F	probably damaging	Het
Pi4k2b	T	A	5: 52,918,331 (GRCm39)	D386E	probably benign	Het
Pik3c2a	A	G	7: 115,945,427 (GRCm39)	F1460L	probably damaging	Het
Plcb2	A	C	2: 118,545,921 (GRCm39)	M588R	probably damaging	Het
Prl7d1	C	A	13: 27,893,260 (GRCm39)	R216L	possibly damaging	Het
Psg28	G	T	7: 18,156,887 (GRCm39)	Y449*	probably null	Het
Psg28	T	A	7: 18,164,602 (GRCm39)	T37S	probably benign	Het
Psmd9	G	T	5: 123,372,745 (GRCm39)	R76M	probably damaging	Het
Rfc1	T	C	5: 65,459,391 (GRCm39)	D189G	probably benign	Het
Rnf207	A	G	4: 152,397,666 (GRCm39)	S363P	probably benign	Het
Sco1	T	A	11: 66,949,250 (GRCm39)	D239E	probably damaging	Het
Sec24d	C	T	3: 123,136,803 (GRCm39)	T512M	probably damaging	Het
Shkbp1	T	C	7: 27,046,442 (GRCm39)	K441E	probably benign	Het
Slc44a5	A	T	3: 153,959,322 (GRCm39)	I338F	probably damaging	Het
Slc4a3	A	T	1: 75,534,319 (GRCm39)	I1161F	probably damaging	Het
Spmip11	T	A	15: 98,483,264 (GRCm39)	L65I	probably damaging	Het
Tnfsf9	T	A	17: 57,414,355 (GRCm39)	L261M	probably damaging	Het
Trim55	C	T	3: 19,699,498 (GRCm39)	R77C	probably damaging	Het
Vmn2r27	A	G	6: 124,168,637 (GRCm39)	I831T	possibly damaging	Het
Vwa3b	A	G	1: 37,081,438 (GRCm39)	I60V	probably benign	Het
Vwf	A	G	6: 125,603,230 (GRCm39)	N860S		Het
Zfp54	T	A	17: 21,654,149 (GRCm39)	N214K	probably benign	Het
Zfp707	T	C	15: 75,845,418 (GRCm39)	I94T		Het

Other mutations in Gbp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7475:Gbp5	UTSW	3	142,207,122 (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
R9761:Gbp5	UTSW	3	142,213,518 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAATTTCTCAGAAACTTGGGC -3'
(R):5'- AAGCTTTCTGTAGCCAGCAAG -3'

Sequencing Primer
(F):5'- TTTCTCAGAAACTTGGGCAAACC -3'
(R):5'- TCACACCCTAGGCTGGATGTG -3'

Posted On

2022-11-14