Mutagenetix > Incidental Mutation

Incidental Mutation 'R5605:Gbp5'

439235

Institutional Source

Beutler Lab

Gene Symbol

Gbp5

Ensembl Gene

ENSMUSG00000105504

Gene Name

guanylate binding protein 5

Synonyms

5330409J06Rik, Gbp5a

MMRRC Submission

043270-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5605 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

142202695-142228105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142207037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 69 (S69P)

Ref Sequence

ENSEMBL: ENSMUSP00000143336 (fasta)

Gene Model

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

AlphaFold

Q8CFB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090127
AA Change: S69P

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: S69P

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: S69P

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

SMART Domains

Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: S69P

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

probably benign
Transcript: ENSMUST00000197459

SMART Domains

Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504

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

0.5528

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,575,425 (GRCm39)	G83*	probably null	Het
Arap2	A	T	5: 62,772,410 (GRCm39)	M1476K	possibly damaging	Het
Catsper2	G	A	2: 121,227,533 (GRCm39)	R546C	possibly damaging	Het
Ceacam5	T	C	7: 17,481,161 (GRCm39)	F303L	probably benign	Het
Clvs1	A	G	4: 9,281,751 (GRCm39)	D65G	probably damaging	Het
Coq5	T	C	5: 115,421,776 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,168,699 (GRCm39)	V950E	probably damaging	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dnah7c	A	G	1: 46,837,395 (GRCm39)	D3936G	possibly damaging	Het
Doc2b	T	C	11: 75,662,786 (GRCm39)	E404G	probably damaging	Het
Dsg1b	C	T	18: 20,532,596 (GRCm39)	P547S	probably benign	Het
Eif1ad17	T	A	12: 87,978,768 (GRCm39)	C51S	probably damaging	Het
Erich6	A	G	3: 58,532,540 (GRCm39)	Y356H	probably damaging	Het
Galnt6	C	T	15: 100,595,106 (GRCm39)	R465Q	probably damaging	Het
Gdpd4	T	C	7: 97,655,507 (GRCm39)	V562A	probably benign	Het
Greb1	A	T	12: 16,758,727 (GRCm39)	V663D	probably damaging	Het
Gtf3c3	A	T	1: 54,455,085 (GRCm39)	S593T	probably benign	Het
H2-Eb1	T	C	17: 34,528,807 (GRCm39)	S113P	probably benign	Het
Herc3	C	T	6: 58,834,712 (GRCm39)	R240C	probably damaging	Het
Iqub	T	C	6: 24,505,620 (GRCm39)	D96G	probably benign	Het
Irag1	C	T	7: 110,545,209 (GRCm39)	C29Y	possibly damaging	Het
Kcnt2	A	T	1: 140,502,481 (GRCm39)	E858D	possibly damaging	Het
Lcor	T	A	19: 41,571,302 (GRCm39)	I165N	probably damaging	Het
Lrp2	C	T	2: 69,353,643 (GRCm39)	R539K	probably damaging	Het
Lrrc10	C	A	10: 116,881,805 (GRCm39)	P160T	probably damaging	Het
Map3k12	G	T	15: 102,412,300 (GRCm39)	D280E	probably benign	Het
Mcub	T	C	3: 129,710,658 (GRCm39)	E258G	probably damaging	Het
Mdn1	T	C	4: 32,765,664 (GRCm39)	S5208P	probably benign	Het
Med20	C	A	17: 47,934,069 (GRCm39)		probably benign	Het
Mertk	T	C	2: 128,580,227 (GRCm39)	V227A	probably benign	Het
Ncstn	A	G	1: 171,908,717 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,307,315 (GRCm39)		probably null	Het
Nfyc	A	G	4: 120,647,686 (GRCm39)		probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nt5dc1	C	T	10: 34,279,691 (GRCm39)	C117Y	probably benign	Het
Nup88	A	T	11: 70,834,896 (GRCm39)		probably benign	Het
Or6z7	C	T	7: 6,483,325 (GRCm39)	V277M	probably benign	Het
Pbrm1	T	A	14: 30,757,949 (GRCm39)	I193K	probably benign	Het
Pcsk2	T	C	2: 143,591,165 (GRCm39)		probably benign	Het
Pdzd2	A	T	15: 12,592,436 (GRCm39)	C69*	probably null	Het
Polr1e	A	G	4: 45,018,723 (GRCm39)	T18A	probably benign	Het
Prima1	T	A	12: 103,166,163 (GRCm39)	I124F	probably benign	Het
Rbm34	T	C	8: 127,676,169 (GRCm39)	K382R	probably benign	Het
Rftn1	T	G	17: 50,354,435 (GRCm39)	N309T	probably damaging	Het
Septin1	C	T	7: 126,814,598 (GRCm39)	D260N	probably damaging	Het
Serpina3g	T	C	12: 104,207,299 (GRCm39)	V154A	probably damaging	Het
Spef2	A	T	15: 9,609,606 (GRCm39)	N1306K	probably damaging	Het
Stk4	T	C	2: 163,921,486 (GRCm39)	F29S	probably damaging	Het
Stxbp5	A	G	10: 9,645,490 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,919,733 (GRCm39)	T774A	probably benign	Het
Tinag	A	G	9: 76,952,694 (GRCm39)	Y97H	probably damaging	Het
Tpm1	T	C	9: 66,956,317 (GRCm39)	E33G	probably damaging	Het
Usp17lb	T	C	7: 104,489,847 (GRCm39)	E359G	probably benign	Het
Vmn2r91	A	G	17: 18,356,763 (GRCm39)	E810G	probably damaging	Het
Vwce	A	T	19: 10,635,402 (GRCm39)	T633S	possibly damaging	Het
Ylpm1	G	A	12: 85,075,627 (GRCm39)	R326H	probably damaging	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
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'- TCAGATCCCAACTTTCAGTCCTTAG -3'
(R):5'- ACCAATTCAACTGGTGGTGAG -3'

Sequencing Primer
(F):5'- AGTATTATTTTCCCATTCCTCTGCG -3'
(R):5'- TGGTGAGAAGGGAAATTCCTGC -3'

Posted On

2016-10-26