Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Gbp5'

554610

Institutional Source

Beutler Lab

Gene Symbol

Gbp5

Ensembl Gene

ENSMUSG00000105504

Gene Name

guanylate binding protein 5

Synonyms

5330409J06Rik, Gbp5a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142202695-142228105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142206471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 52 (S52P)

Ref Sequence

ENSEMBL: ENSMUSP00000087587 (fasta)

Gene Model

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

AlphaFold

Q8CFB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000090127
AA Change: S52P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: S52P

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 damaging
Transcript: ENSMUST00000196255
AA Change: S52P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: S52P

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: S52P

SMART Domains

Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504
AA Change: S52P

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: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,283,398 (GRCm39)	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,129,100 (GRCm39)	V165A	probably damaging	Het
Aox1	A	T	1: 58,321,839 (GRCm39)	T44S	probably damaging	Het
Arhgap29	T	A	3: 121,796,861 (GRCm39)	N482K	probably benign	Het
Arhgef38	T	A	3: 132,866,591 (GRCm39)	D182V		Het
Atad5	C	T	11: 80,002,393 (GRCm39)	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,742,453 (GRCm39)	S147P	possibly damaging	Het
Cblb	T	A	16: 51,959,905 (GRCm39)	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,514,818 (GRCm39)	N97S	probably benign	Het
Cdh23	A	G	10: 60,301,237 (GRCm39)	V479A	probably benign	Het
Chuk	A	G	19: 44,087,022 (GRCm39)		probably null	Het
Cmtr2	G	A	8: 110,948,968 (GRCm39)	G426D	probably damaging	Het
Cog4	G	A	8: 111,593,304 (GRCm39)	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472 (GRCm39)	L193*	probably null	Het
Cxcr6	A	T	9: 123,639,526 (GRCm39)	I183F	probably benign	Het
Dbf4	A	G	5: 8,453,664 (GRCm39)	F253L	probably benign	Het
Dcaf8	T	C	1: 172,000,364 (GRCm39)	V174A	probably damaging	Het
Ddhd2	T	C	8: 26,225,779 (GRCm39)	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,647,766 (GRCm39)	V33A	probably benign	Het
Egfl7	C	T	2: 26,481,052 (GRCm39)	P188L	probably benign	Het
Ephb3	A	G	16: 21,039,607 (GRCm39)	E707G	probably damaging	Het
Epn3	C	T	11: 94,387,349 (GRCm39)	R7H	probably damaging	Het
Fbp1	T	A	13: 63,015,194 (GRCm39)	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,896,088 (GRCm39)	R177*	probably null	Het
Gask1b	C	A	3: 79,794,246 (GRCm39)	S238Y	possibly damaging	Het
Glb1l2	A	T	9: 26,685,277 (GRCm39)	S282T	probably benign	Het
Glg1	A	T	8: 111,985,431 (GRCm39)	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,423,949 (GRCm39)	L736F	probably benign	Het
Gm5565	A	T	5: 146,095,109 (GRCm39)	S212R	probably benign	Het
Grin2c	T	C	11: 115,140,459 (GRCm39)	T1220A	probably benign	Het
Grp	T	G	18: 66,019,297 (GRCm39)	S133A	probably benign	Het
Gstp2	C	A	19: 4,090,713 (GRCm39)	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,768,392 (GRCm39)	F84L	probably damaging	Het
Inppl1	T	C	7: 101,475,220 (GRCm39)	R944G	probably benign	Het
Lama2	A	T	10: 27,245,132 (GRCm39)	N216K	probably damaging	Het
Lrp2	T	A	2: 69,367,882 (GRCm39)	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,791,608 (GRCm39)	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 102,907,055 (GRCm39)	I1555T	probably benign	Het
Map2	G	A	1: 66,451,677 (GRCm39)	G189D	probably benign	Het
Mdc1	A	G	17: 36,155,361 (GRCm39)	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,844,542 (GRCm39)	D152G	possibly damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mutyh	G	A	4: 116,674,267 (GRCm39)	V273M	probably damaging	Het
Neurod2	T	A	11: 98,218,708 (GRCm39)	Y152F	probably damaging	Het
Or5d3	C	T	2: 88,174,357 (GRCm39)	A247T	probably benign	Het
Or5g25	A	C	2: 85,478,068 (GRCm39)	L199R	probably damaging	Het
Or8c20	G	T	9: 38,260,494 (GRCm39)	L32F	probably benign	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pde6b	T	C	5: 108,571,451 (GRCm39)		probably null	Het
Pdzrn4	A	T	15: 92,667,762 (GRCm39)	D638V	possibly damaging	Het
Polr1b	A	G	2: 128,951,212 (GRCm39)	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,251,143 (GRCm39)	D127V	probably damaging	Het
Rspo4	T	A	2: 151,709,803 (GRCm39)	C69*	probably null	Het
Scara3	T	C	14: 66,173,851 (GRCm39)	T63A	probably benign	Het
Scn2a	G	A	2: 65,514,182 (GRCm39)	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,295,786 (GRCm39)	T163A	probably benign	Het
Slc2a10	T	A	2: 165,358,213 (GRCm39)	F446Y	probably damaging	Het
Snapc1	C	T	12: 74,029,269 (GRCm39)	R351C	probably damaging	Het
Snx6	A	G	12: 54,814,815 (GRCm39)	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,697,299 (GRCm39)	C1996*	probably null	Het
Steap4	A	G	5: 8,030,337 (GRCm39)	T398A	probably benign	Het
Tep1	A	T	14: 51,103,510 (GRCm39)	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,463 (GRCm39)	V70D	possibly damaging	Het
Ttn	G	A	2: 76,569,362 (GRCm39)	A27177V	probably damaging	Het
Ube3a	T	C	7: 58,925,870 (GRCm39)	V237A	possibly damaging	Het
Vil1	G	A	1: 74,460,542 (GRCm39)	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,433,088 (GRCm39)	T716A	probably benign	Het
Zbp1	A	G	2: 173,058,783 (GRCm39)	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524 (GRCm39)	V1845A	probably benign	Het
Zfp407	A	T	18: 84,579,393 (GRCm39)	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,767,735 (GRCm39)	T626A	probably benign	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
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
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'- CCTAATGGGTCATTTGTTCTAAGG -3'
(R):5'- CTCCCATCTGATGCCAACAG -3'

Sequencing Primer
(F):5'- CTAGAAATTTCAGGTCACCCTATTTC -3'
(R):5'- AACAGCAGCTGTGGCAC -3'

Posted On

2019-06-07