Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Gbp2'

559531

Institutional Source

Beutler Lab

Gene Symbol

Gbp2

Ensembl Gene

ENSMUSG00000028270

Gene Name

guanylate binding protein 2

Synonyms

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142326424-142343769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142339208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 420 (V420A)

Ref Sequence

ENSEMBL: ENSMUSP00000132435 (fasta)

Gene Model

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

AlphaFold

Q9Z0E6

Predicted Effect

probably benign
Transcript: ENSMUST00000165774
AA Change: V420A

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132435
Gene: ENSMUSG00000028270
AA Change: V420A

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Add3	C	T	19: 53,205,330 (GRCm39)	R27*	probably null	Het
Armc3	T	A	2: 19,297,947 (GRCm39)	Y573N	probably damaging	Het
Bod1l	A	C	5: 41,977,281 (GRCm39)	N1344K	probably benign	Het
Camta1	T	G	4: 151,232,980 (GRCm39)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,120 (GRCm39)	Y57*	probably null	Het
Ccdc168	A	C	1: 44,100,775 (GRCm39)	S108A	probably benign	Het
Ccdc186	T	A	19: 56,780,432 (GRCm39)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,359,574 (GRCm39)		probably null	Het
Dnah2	G	T	11: 69,439,923 (GRCm39)		probably null	Het
Fhod3	T	C	18: 25,223,812 (GRCm39)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,223,201 (GRCm39)	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,257,722 (GRCm39)	I210N	probably benign	Het
Gba1	T	A	3: 89,111,669 (GRCm39)	I112N	probably damaging	Het
Golga3	T	A	5: 110,357,721 (GRCm39)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,203,992 (GRCm39)	A318T	probably benign	Het
Gpr6	T	C	10: 40,946,956 (GRCm39)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,709,946 (GRCm39)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,557,818 (GRCm39)	H307Y	unknown	Het
Il20ra	A	T	10: 19,618,689 (GRCm39)	I46F	probably damaging	Het
Lvrn	A	G	18: 47,033,570 (GRCm39)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,752,198 (GRCm39)	D728E	probably damaging	Het
Nup107	T	C	10: 117,598,040 (GRCm39)	D630G	probably benign	Het
Or1e19	A	T	11: 73,315,990 (GRCm39)	I273N	probably benign	Het
Or6c5c	T	C	10: 129,298,626 (GRCm39)	I27T	probably benign	Het
Pclo	C	A	5: 14,729,743 (GRCm39)	A2867D	unknown	Het
Perm1	A	G	4: 156,304,272 (GRCm39)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,541,325 (GRCm39)	V162L	probably benign	Het
Plscr4	A	T	9: 92,370,694 (GRCm39)	E220D	probably benign	Het
Ppp2r3d	A	T	9: 101,089,726 (GRCm39)	M199K	probably benign	Het
Pramel38	T	G	5: 94,366,096 (GRCm39)	N71K	probably benign	Het
Rassf6	T	C	5: 90,754,666 (GRCm39)	E204G	probably damaging	Het
Reln	A	C	5: 22,252,945 (GRCm39)	D667E	probably damaging	Het
Rere	A	G	4: 150,695,410 (GRCm39)	I462V	unknown	Het
Rpain	A	G	11: 70,862,735 (GRCm39)	E76G	possibly damaging	Het
Strc	T	G	2: 121,199,507 (GRCm39)	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937 (GRCm39)	M1385V	probably benign	Het
Syne2	T	A	12: 76,113,361 (GRCm39)	D1083E	probably benign	Het
Szt2	T	A	4: 118,246,203 (GRCm39)	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,113,493 (GRCm39)		probably null	Het
Thy1	T	A	9: 43,958,222 (GRCm39)	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,282,496 (GRCm39)	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,644,491 (GRCm39)	I118V	probably benign	Het
Tsen34	T	C	7: 3,697,806 (GRCm39)	V69A	possibly damaging	Het
Ttn	T	C	2: 76,717,143 (GRCm39)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 25,967,105 (GRCm39)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,398,205 (GRCm39)	D810G	probably benign	Het
Zer1	T	C	2: 29,993,444 (GRCm39)	D554G	probably damaging	Het
Zfp626	A	T	7: 27,517,768 (GRCm39)	T250S	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
IGL03024:Gbp2	APN	3	142,337,780 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGATTCTATAGCCAGCACCC -3'
(R):5'- CTCACTGGCATCTGGAAGAG -3'

Sequencing Primer
(F):5'- ATGAAGAGCCTGTCCCCATTTAG -3'
(R):5'- ACTGGCATCTGGAAGAGATTCCTC -3'

Posted On

2019-06-26