Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03024:Gbp2'

408076

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp2

Ensembl Gene

ENSMUSG00000028270

Gene Name

guanylate binding protein 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03024

Quality Score

Status

Chromosome

Chromosomal Location

142326424-142343769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142337780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 299 (V299F)

Ref Sequence

ENSEMBL: ENSMUSP00000132435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165774] [ENSMUST00000169572]

AlphaFold

Q9Z0E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000165774
AA Change: V299F

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

SMART Domains

Protein: ENSMUSP00000132435
Gene: ENSMUSG00000028270
AA Change: V299F

Domain	Start	End	E-Value	Type
Pfam:GBP	18	280	7.5e-124	PFAM
Pfam:GBP_C	282	578	1.3e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169572

SMART Domains

Protein: ENSMUSP00000129039
Gene: ENSMUSG00000028270

Domain	Start	End	E-Value	Type
Pfam:GBP	18	115	3.1e-49	PFAM
Pfam:MMR_HSR1	40	116	1.3e-6	PFAM

Coding Region Coverage

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 guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to increased susceptibility to chronic Toxoplasma gondii infection, characterized by an increased parasite burden in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,212,464 (GRCm39)	F257L	probably benign	Het
Aaas	A	G	15: 102,258,926 (GRCm39)		probably benign	Het
AI661453	C	T	17: 47,757,513 (GRCm39)	R57W	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Bahd1	T	C	2: 118,746,597 (GRCm39)	V72A	probably damaging	Het
Bcl3	A	G	7: 19,543,059 (GRCm39)		probably benign	Het
Blnk	A	T	19: 40,982,445 (GRCm39)		probably benign	Het
Cd81	T	C	7: 142,621,089 (GRCm39)	I230T	probably benign	Het
Cdc20b	A	T	13: 113,227,576 (GRCm39)	R485S	possibly damaging	Het
Cenpp	C	A	13: 49,617,730 (GRCm39)	A273S	probably benign	Het
Cep295	A	G	9: 15,236,868 (GRCm39)	V2022A	probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cfap61	C	A	2: 145,781,919 (GRCm39)		probably benign	Het
Col8a1	T	A	16: 57,448,727 (GRCm39)	H261L	unknown	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
D930020B18Rik	T	C	10: 121,521,527 (GRCm39)		probably benign	Het
Dhdds	A	T	4: 133,710,160 (GRCm39)	L203Q	probably damaging	Het
Dusp6	A	G	10: 99,102,156 (GRCm39)	T381A	probably damaging	Het
Elp1	A	G	4: 56,774,686 (GRCm39)		probably null	Het
Fnbp4	A	G	2: 90,581,523 (GRCm39)	D192G	probably benign	Het
Gfpt1	G	T	6: 87,030,813 (GRCm39)	V66F	probably damaging	Het
Heatr1	T	C	13: 12,422,390 (GRCm39)		probably benign	Het
Irf8	T	A	8: 121,480,097 (GRCm39)	S112T	probably damaging	Het
Jmy	G	T	13: 93,635,707 (GRCm39)	N36K	probably damaging	Het
Kcnt2	T	C	1: 140,498,193 (GRCm39)	I866T	probably benign	Het
Kif1c	A	T	11: 70,596,015 (GRCm39)	M210L	probably damaging	Het
Kng1	G	A	16: 22,893,442 (GRCm39)	V272I	possibly damaging	Het
Lrig2	A	C	3: 104,401,389 (GRCm39)	M166R	probably damaging	Het
Mastl	A	G	2: 23,029,931 (GRCm39)	L265P	probably damaging	Het
Mmp27	A	G	9: 7,581,377 (GRCm39)	T547A	probably benign	Het
Myh4	T	C	11: 67,139,305 (GRCm39)	C541R	probably damaging	Het
Naip2	A	T	13: 100,325,862 (GRCm39)	F15L	possibly damaging	Het
Nipal1	G	T	5: 72,820,968 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,810,893 (GRCm39)	N645Y	probably damaging	Het
Or1j19	T	A	2: 36,676,858 (GRCm39)	F107Y	possibly damaging	Het
Or4g17	T	A	2: 111,209,935 (GRCm39)	F197I	possibly damaging	Het
Or7d9	T	A	9: 20,197,280 (GRCm39)	M103K	probably benign	Het
Plcl1	T	A	1: 55,734,946 (GRCm39)	S96T	probably damaging	Het
Prl2c1	A	C	13: 28,040,524 (GRCm39)	D139A	probably benign	Het
Prmt5	A	T	14: 54,754,055 (GRCm39)	M43K	possibly damaging	Het
Ptpn21	T	A	12: 98,646,315 (GRCm39)	M1048L	probably benign	Het
Ptprq	T	C	10: 107,521,427 (GRCm39)	E653G	possibly damaging	Het
Rbm6	A	G	9: 107,664,567 (GRCm39)	S689P	probably damaging	Het
Rtn3	A	G	19: 7,460,455 (GRCm39)		probably benign	Het
Shoc2	T	C	19: 53,991,458 (GRCm39)	I241T	probably benign	Het
Sipa1	A	T	19: 5,706,189 (GRCm39)	D380E	probably damaging	Het
Slc1a6	T	C	10: 78,650,442 (GRCm39)	V560A	probably benign	Het
Speer2	T	C	16: 69,655,003 (GRCm39)	H154R	possibly damaging	Het
Tlk1	A	T	2: 70,576,380 (GRCm39)	C247*	probably null	Het
Trim15	A	G	17: 37,177,785 (GRCm39)	L70P	probably damaging	Het
Ttc9b	T	C	7: 27,354,358 (GRCm39)	L148P	probably damaging	Het
Vwa8	C	T	14: 79,232,538 (GRCm39)	P627S	probably benign	Het

Other mutations in Gbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02026:Gbp2	APN	3	142,339,241 (GRCm39)	missense	probably damaging	1.00
IGL02055:Gbp2	APN	3	142,337,991 (GRCm39)	missense	probably benign	0.16
P4717OSA:Gbp2	UTSW	3	142,336,357 (GRCm39)	missense	possibly damaging	0.63
PIT4445001:Gbp2	UTSW	3	142,343,227 (GRCm39)	missense	probably benign
R0267:Gbp2	UTSW	3	142,335,867 (GRCm39)	missense	probably benign	0.00
R0507:Gbp2	UTSW	3	142,335,794 (GRCm39)	missense	probably damaging	1.00
R0601:Gbp2	UTSW	3	142,336,519 (GRCm39)	missense	possibly damaging	0.47
R1005:Gbp2	UTSW	3	142,336,262 (GRCm39)	splice site	probably benign
R1006:Gbp2	UTSW	3	142,343,183 (GRCm39)	missense	probably damaging	1.00
R1795:Gbp2	UTSW	3	142,336,284 (GRCm39)	missense	possibly damaging	0.61
R1893:Gbp2	UTSW	3	142,335,933 (GRCm39)	splice site	probably benign
R2398:Gbp2	UTSW	3	142,339,123 (GRCm39)	missense	probably benign	0.01
R3978:Gbp2	UTSW	3	142,335,747 (GRCm39)	missense	possibly damaging	0.88
R4095:Gbp2	UTSW	3	142,343,210 (GRCm39)	missense	probably benign
R4490:Gbp2	UTSW	3	142,329,525 (GRCm39)	missense	probably benign	0.30
R5799:Gbp2	UTSW	3	142,337,843 (GRCm39)	missense	probably benign
R5834:Gbp2	UTSW	3	142,339,138 (GRCm39)	missense	probably damaging	0.98
R6159:Gbp2	UTSW	3	142,338,018 (GRCm39)	missense	probably damaging	0.99
R6237:Gbp2	UTSW	3	142,337,793 (GRCm39)	missense	probably benign
R6494:Gbp2	UTSW	3	142,337,769 (GRCm39)	missense	probably damaging	0.98
R6982:Gbp2	UTSW	3	142,335,846 (GRCm39)	missense	probably damaging	1.00
R7190:Gbp2	UTSW	3	142,339,208 (GRCm39)	missense	probably benign	0.15
R8292:Gbp2	UTSW	3	142,329,584 (GRCm39)	missense	probably damaging	1.00
R9215:Gbp2	UTSW	3	142,338,036 (GRCm39)	critical splice donor site	probably null
R9768:Gbp2	UTSW	3	142,341,055 (GRCm39)	missense	probably benign	0.03
Z1088:Gbp2	UTSW	3	142,335,776 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02