Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Gbp5'

29864

Institutional Source

Beutler Lab

Gene Symbol

Gbp5

Ensembl Gene

ENSMUSG00000105504

Gene Name

guanylate binding protein 5

Synonyms

5330409J06Rik, Gbp5a

MMRRC Submission

038563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142202695-142228105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142211172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 301 (D301N)

Ref Sequence

ENSEMBL: ENSMUSP00000143336 (fasta)

Gene Model

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

AlphaFold

Q8CFB4

Predicted Effect

probably benign
Transcript: ENSMUST00000090127
AA Change: D301N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: D301N

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: D301N

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: D301N

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: D189N

SMART Domains

Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504
AA Change: D189N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199578

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

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
Abcf2	T	C	5: 24,778,463 (GRCm39)	K232E	probably benign	Het
AI837181	C	T	19: 5,476,731 (GRCm39)	T298I	possibly damaging	Het
Alox12	T	C	11: 70,133,362 (GRCm39)	Y614C	probably damaging	Het
Amn	A	T	12: 111,240,575 (GRCm39)		probably null	Het
Ankrd33b	A	G	15: 31,305,272 (GRCm39)	S121P	probably benign	Het
Aox1	A	G	1: 58,131,675 (GRCm39)	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314 (GRCm39)	R736L	probably benign	Het
Atp2a3	G	A	11: 72,861,757 (GRCm39)		probably null	Het
Cables2	T	C	2: 179,904,025 (GRCm39)		probably benign	Het
Catsperg2	A	T	7: 29,414,326 (GRCm39)	Y360N	possibly damaging	Het
Cdh4	T	C	2: 179,489,133 (GRCm39)	S282P	probably damaging	Het
Col5a3	C	T	9: 20,719,064 (GRCm39)		probably benign	Het
Ctso	A	T	3: 81,858,850 (GRCm39)		probably benign	Het
Cyp4f13	A	T	17: 33,151,625 (GRCm39)	Y125*	probably null	Het
Dapk1	T	A	13: 60,877,372 (GRCm39)	L537*	probably null	Het
Ddit4l	G	A	3: 137,331,946 (GRCm39)	R104Q	probably benign	Het
Def6	C	T	17: 28,442,909 (GRCm39)	H322Y	probably damaging	Het
Dnaaf9	A	T	2: 130,554,866 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,165,342 (GRCm39)	N588D	probably benign	Het
Dzip1	T	A	14: 119,146,950 (GRCm39)	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,536,934 (GRCm39)	H319R	probably damaging	Het
Erc2	A	G	14: 27,498,979 (GRCm39)	E285G	probably damaging	Het
Fat4	G	A	3: 38,945,376 (GRCm39)	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,839 (GRCm39)	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,762 (GRCm39)	A126T	probably damaging	Het
Gm10360	T	C	6: 70,401,297 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,387,604 (GRCm39)		noncoding transcript	Het
Gm8674	T	A	13: 50,056,149 (GRCm39)		noncoding transcript	Het
H2bc18	A	C	3: 96,177,104 (GRCm39)	K13Q	probably null	Het
Ift172	A	G	5: 31,415,244 (GRCm39)	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,821,986 (GRCm39)	Y686*	probably null	Het
Insrr	A	C	3: 87,715,953 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,945,019 (GRCm39)	M580K	probably benign	Het
Krt87	C	T	15: 101,384,900 (GRCm39)	V399M	probably benign	Het
Macf1	T	C	4: 123,351,776 (GRCm39)	N3708S	probably damaging	Het
Matcap1	A	T	8: 106,011,699 (GRCm39)	V222E	probably damaging	Het
Mogat1	T	C	1: 78,488,677 (GRCm39)	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,631,574 (GRCm39)	M9K	probably benign	Het
Mtus1	A	T	8: 41,536,563 (GRCm39)	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,546,771 (GRCm39)	M306K	probably benign	Het
Noxa1	G	T	2: 24,975,862 (GRCm39)	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or10ak12	A	C	4: 118,666,614 (GRCm39)	L149R	probably damaging	Het
Or2y1f	A	G	11: 49,184,613 (GRCm39)	N155S	probably damaging	Het
Or6k4	T	A	1: 173,964,865 (GRCm39)	L185*	probably null	Het
Or6n1	T	C	1: 173,916,675 (GRCm39)	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,963,621 (GRCm39)		probably benign	Het
Paxx	T	A	2: 25,350,079 (GRCm39)	E145D	probably damaging	Het
Pde4d	T	C	13: 110,087,802 (GRCm39)	V560A	possibly damaging	Het
Pheta2	C	T	15: 82,227,517 (GRCm39)	A12V	probably damaging	Het
Plxnd1	C	T	6: 115,946,421 (GRCm39)	V847M	probably benign	Het
Polk	T	A	13: 96,641,105 (GRCm39)	M151L	probably damaging	Het
Ptprq	C	T	10: 107,522,060 (GRCm39)		probably benign	Het
Pum2	A	G	12: 8,771,785 (GRCm39)	Q371R	possibly damaging	Het
Reln	G	A	5: 22,155,820 (GRCm39)	A2224V	probably damaging	Het
Rmc1	T	C	18: 12,312,266 (GRCm39)	S169P	possibly damaging	Het
Scart1	T	G	7: 139,807,808 (GRCm39)	C660G	probably damaging	Het
Shroom1	A	G	11: 53,356,035 (GRCm39)	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,158,158 (GRCm39)		probably null	Het
Spg11	A	C	2: 121,896,713 (GRCm39)		probably benign	Het
Tcaf3	T	A	6: 42,566,761 (GRCm39)	Y776F	probably damaging	Het
Thada	A	G	17: 84,538,364 (GRCm39)	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,481,130 (GRCm39)	P410S	probably damaging	Het
Ube2u	G	T	4: 100,338,851 (GRCm39)	E39*	probably null	Het
Ulbp3	A	T	10: 3,070,307 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,075,788 (GRCm39)		noncoding transcript	Het
Vmn2r2	C	T	3: 64,041,320 (GRCm39)		probably null	Het
Vmn2r24	TCC	TC	6: 123,792,369 (GRCm39)		probably null	Het
Wdr87-ps	A	T	7: 29,235,007 (GRCm39)		noncoding transcript	Het
Zfp110	A	G	7: 12,570,302 (GRCm39)	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,272,245 (GRCm39)	T55A	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
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
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'- TCGGGGCCATTTGAATATTGTCCAG -3'
(R):5'- GACCAAGCCCACATAAGTGACTGTC -3'

Sequencing Primer
(F):5'- GGCCATTTGAATATTGTCCAGAAGAC -3'
(R):5'- GAATGCTTCCTGAAGATTTCTATGGC -3'

Posted On

2013-04-24