Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Gbp2b'

302398

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp2b

Ensembl Gene

ENSMUSG00000040264

Gene Name

guanylate binding protein 2b

Synonyms

Gbp1, Mpa1, Mag-1, Gbp-1, Mpa-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

142594847-142619179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142604112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 221 (R221L)

Ref Sequence

ENSEMBL: ENSMUSP00000029936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029936]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029936
AA Change: R221L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: R221L

Domain	Start	End	E-Value	Type
Pfam:GBP	18	280	4.1e-122	PFAM
Pfam:GBP_C	282	578	5.5e-125	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 encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	Het

Other mutations in Gbp2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Gbp2b	APN	3	142598312	missense	probably damaging	1.00
IGL01892:Gbp2b	APN	3	142603620	missense	probably benign	0.03
IGL01989:Gbp2b	APN	3	142611440	missense	probably benign	0.19
IGL02019:Gbp2b	APN	3	142606990	missense	possibly damaging	0.52
IGL02338:Gbp2b	APN	3	142604226	missense	probably benign	0.09
IGL03148:Gbp2b	APN	3	142606881	missense	probably benign	0.00
FR4304:Gbp2b	UTSW	3	142603652	missense	probably benign	0.00
FR4340:Gbp2b	UTSW	3	142603652	missense	probably benign	0.00
FR4342:Gbp2b	UTSW	3	142603652	missense	probably benign	0.00
FR4589:Gbp2b	UTSW	3	142603652	missense	probably benign	0.00
R0329:Gbp2b	UTSW	3	142608176	missense	probably benign	0.01
R0345:Gbp2b	UTSW	3	142608183	missense	probably damaging	1.00
R0358:Gbp2b	UTSW	3	142606789	missense	probably damaging	1.00
R0732:Gbp2b	UTSW	3	142606978	missense	probably benign
R1163:Gbp2b	UTSW	3	142599096	missense	probably damaging	1.00
R1550:Gbp2b	UTSW	3	142606830	missense	probably damaging	0.99
R1629:Gbp2b	UTSW	3	142610974	missense	possibly damaging	0.93
R1886:Gbp2b	UTSW	3	142608302	missense	probably benign
R1887:Gbp2b	UTSW	3	142608302	missense	probably benign
R2188:Gbp2b	UTSW	3	142608279	missense	probably benign	0.44
R2261:Gbp2b	UTSW	3	142606735	missense	probably benign	0.00
R3977:Gbp2b	UTSW	3	142603709	missense	probably benign	0.02
R4718:Gbp2b	UTSW	3	142598995	missense	probably damaging	1.00
R4788:Gbp2b	UTSW	3	142611410	missense	probably benign	0.21
R4807:Gbp2b	UTSW	3	142598245	missense	probably benign	0.02
R5042:Gbp2b	UTSW	3	142611463	missense	probably benign	0.03
R5087:Gbp2b	UTSW	3	142598254	missense	probably damaging	1.00
R5114:Gbp2b	UTSW	3	142598185	missense	probably damaging	1.00
R5414:Gbp2b	UTSW	3	142599091	missense	probably damaging	1.00
R5567:Gbp2b	UTSW	3	142611365	missense	possibly damaging	0.75
R5625:Gbp2b	UTSW	3	142599045	missense	probably damaging	1.00
R5685:Gbp2b	UTSW	3	142608158	missense	probably benign
R6030:Gbp2b	UTSW	3	142603653	missense	probably benign	0.00
R6030:Gbp2b	UTSW	3	142603653	missense	probably benign	0.00
R6408:Gbp2b	UTSW	3	142618138	missense	probably benign	0.00
R6500:Gbp2b	UTSW	3	142611491	missense	probably benign	0.06
R6581:Gbp2b	UTSW	3	142608238	nonsense	probably null
R6582:Gbp2b	UTSW	3	142611040	missense	possibly damaging	0.53
R6847:Gbp2b	UTSW	3	142598179	missense	probably damaging	0.96
R6923:Gbp2b	UTSW	3	142600559	missense	probably benign	0.01
R7120:Gbp2b	UTSW	3	142606746	missense	probably benign	0.01
R7255:Gbp2b	UTSW	3	142608117	missense	probably damaging	1.00
R7454:Gbp2b	UTSW	3	142598159	missense	possibly damaging	0.75
R7643:Gbp2b	UTSW	3	142603609	missense	probably benign	0.07
R8039:Gbp2b	UTSW	3	142618164	missense	probably benign	0.02
R8312:Gbp2b	UTSW	3	142599051	missense	probably benign
R8312:Gbp2b	UTSW	3	142599054	missense	probably damaging	0.96
R8391:Gbp2b	UTSW	3	142604133	missense	probably damaging	1.00
R8418:Gbp2b	UTSW	3	142603705	missense	probably benign	0.01
R8721:Gbp2b	UTSW	3	142606944	missense	possibly damaging	0.93
R8842:Gbp2b	UTSW	3	142606815	missense	probably benign
R8849:Gbp2b	UTSW	3	142608152	missense	probably benign	0.00
R8874:Gbp2b	UTSW	3	142608279	missense	probably benign	0.03
R8896:Gbp2b	UTSW	3	142603566	missense	probably damaging	1.00
R8992:Gbp2b	UTSW	3	142610969	missense	probably benign	0.00
R9339:Gbp2b	UTSW	3	142611417	missense	probably benign	0.01
R9752:Gbp2b	UTSW	3	142608156	missense	probably benign	0.16
Z1177:Gbp2b	UTSW	3	142604316	missense	possibly damaging	0.90

Posted On

2015-04-16