Mutagenetix > Incidental Mutation

Incidental Mutation 'R1520:Gbp5'

167350

Institutional Source

Beutler Lab

Gene Symbol

Gbp5

Ensembl Gene

ENSMUSG00000105504

Gene Name

guanylate binding protein 5

Synonyms

5330409J06Rik, Gbp5a

MMRRC Submission

039564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142202695-142228105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142213775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 523 (H523L)

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: H523L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: H523L

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: H523L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: H523L

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: H411L

SMART Domains

Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504
AA Change: H411L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,844,664 (GRCm39)	N1491S	possibly damaging	Het
Abcb1b	G	A	5: 8,864,768 (GRCm39)	A249T	probably damaging	Het
Acacb	A	G	5: 114,340,001 (GRCm39)	D804G	possibly damaging	Het
Agpat3	A	T	10: 78,123,857 (GRCm39)	M1K	probably null	Het
Akr1c12	A	C	13: 4,326,298 (GRCm39)	I61R	probably damaging	Het
Antxr2	G	A	5: 98,108,551 (GRCm39)	A320V	probably benign	Het
Aoc1l2	T	A	6: 48,908,231 (GRCm39)	Y410*	probably null	Het
Arhgef1	A	G	7: 24,619,129 (GRCm39)	R454G	probably damaging	Het
C1ql4	T	C	15: 98,985,548 (GRCm39)	H21R	probably benign	Het
Celsr3	T	C	9: 108,725,857 (GRCm39)	S3029P	probably damaging	Het
Chaf1a	T	C	17: 56,354,302 (GRCm39)	C191R	unknown	Het
Corin	A	C	5: 72,488,238 (GRCm39)	C627G	probably damaging	Het
Cyp3a11	T	C	5: 145,799,263 (GRCm39)	Y308C	probably damaging	Het
Cyp4a32	A	G	4: 115,471,849 (GRCm39)	N420S	probably damaging	Het
Eftud2	A	G	11: 102,730,266 (GRCm39)	S889P	probably damaging	Het
Eng	A	G	2: 32,562,953 (GRCm39)	H267R	probably benign	Het
Ep400	A	G	5: 110,839,644 (GRCm39)		probably benign	Het
Fmo9	G	T	1: 166,495,024 (GRCm39)	H292Q	probably benign	Het
Frmpd4	T	C	X: 166,275,949 (GRCm39)	S373G	probably damaging	Het
Fsip2	T	A	2: 82,811,058 (GRCm39)	I2459K	possibly damaging	Het
Gpr65	T	C	12: 98,241,434 (GRCm39)	V29A	probably benign	Het
Igkv7-33	T	A	6: 70,036,132 (GRCm39)		probably benign	Het
Iqcc	G	A	4: 129,510,762 (GRCm39)	T251I	possibly damaging	Het
Jund	A	G	8: 71,151,923 (GRCm39)	T73A	probably benign	Het
Kif14	A	G	1: 136,431,062 (GRCm39)	D1153G	probably benign	Het
Mcm8	T	C	2: 132,681,375 (GRCm39)	V617A	probably benign	Het
Mdga1	A	G	17: 30,065,493 (GRCm39)	F646L	probably benign	Het
Morc3	A	G	16: 93,641,129 (GRCm39)	K54E	probably damaging	Het
Mutyh	T	C	4: 116,674,749 (GRCm39)	L357P	probably damaging	Het
Mylk4	T	C	13: 32,896,821 (GRCm39)		probably null	Het
Or4k41	G	A	2: 111,279,619 (GRCm39)	V45I	probably benign	Het
Osbpl3	T	A	6: 50,323,411 (GRCm39)	D224V	possibly damaging	Het
Parp4	T	C	14: 56,835,863 (GRCm39)	I469T	probably damaging	Het
Pkd1l2	A	G	8: 117,772,898 (GRCm39)	V1043A	probably benign	Het
Plod3	A	G	5: 137,020,165 (GRCm39)	N460S	probably damaging	Het
Preb	A	G	5: 31,115,868 (GRCm39)	F192L	probably benign	Het
Prkra	T	C	2: 76,469,622 (GRCm39)	T146A	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rag2	T	C	2: 101,460,476 (GRCm39)	I262T	probably damaging	Het
Rgr	A	G	14: 36,766,672 (GRCm39)	W125R	probably damaging	Het
Rit1	T	A	3: 88,636,620 (GRCm39)	F211I	probably benign	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Serinc2	C	T	4: 130,154,543 (GRCm39)	V234I	probably benign	Het
Srp54b	T	C	12: 55,304,354 (GRCm39)	M434T	possibly damaging	Het
Srrt	C	A	5: 137,297,028 (GRCm39)	R69L	probably damaging	Het
Sv2b	A	G	7: 74,807,077 (GRCm39)	L191P	probably damaging	Het
Tcf12	C	A	9: 71,790,388 (GRCm39)		probably null	Het
Tmem273	A	T	14: 32,527,083 (GRCm39)		probably benign	Het
Tmem87b	T	C	2: 128,681,176 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,647,392 (GRCm39)	E11031G	possibly damaging	Het
Uaca	A	T	9: 60,778,663 (GRCm39)	T1017S	probably benign	Het
Urb1	C	A	16: 90,571,633 (GRCm39)	V1059L	probably benign	Het
V1rd19	G	A	7: 23,702,623 (GRCm39)	A30T	probably damaging	Het
Vldlr	C	T	19: 27,217,943 (GRCm39)	L91F	probably damaging	Het
Vldlr	G	T	19: 27,224,466 (GRCm39)	A770S	possibly damaging	Het
Vmn2r80	A	G	10: 79,030,594 (GRCm39)	T807A	probably damaging	Het
Wwox	C	T	8: 115,438,873 (GRCm39)	P313L	probably benign	Het
Zap70	T	C	1: 36,810,036 (GRCm39)	S49P	probably damaging	Het
Zfp317	A	G	9: 19,559,144 (GRCm39)	I453V	possibly 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
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'- TTTGAACGCCAAAGAAACAGTGAGC -3'
(R):5'- TGTCACCTTGACAGATGGGAGAGAG -3'

Sequencing Primer
(F):5'- GCCAGTATTACATGATGCACAG -3'
(R):5'- GATGAGTAGCTAAGTAACACATGAG -3'

Posted On

2014-04-13