Mutagenetix > Incidental Mutations

Incidental Mutation 'R8896:Gbp2b'

678011

Institutional Source

Beutler Lab

Gene Symbol

Gbp2b

Ensembl Gene

ENSMUSG00000040264

Gene Name

guanylate binding protein 2b

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142594847-142619179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142603566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 146 (T146K)

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: T146K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: T146K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	G	1: 58,252,074	S784A	probably benign	Het
Ap3d1	T	A	10: 80,716,591	H581L	probably benign	Het
Atp11a	T	C	8: 12,849,781	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,387,514	D213G	probably benign	Het
Bcl11a	A	G	11: 24,163,640	S328G	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cadps2	T	A	6: 23,410,877	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,853,835	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 180,130,808		probably benign	Het
Cep152	A	T	2: 125,566,235	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,106,626	I404V	probably benign	Het
Cr2	A	T	1: 195,169,273	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,760,253	Y257C	unknown	Het
Dennd1c	T	A	17: 57,074,512	D116V	probably damaging	Het
Dph2	G	A	4: 117,890,378	R270*	probably null	Het
Dpp8	A	C	9: 65,078,036	H792P	possibly damaging	Het
Dupd1	T	C	14: 21,686,695	D113G	probably benign	Het
Efs	T	C	14: 54,920,299	E185G	possibly damaging	Het
Eml3	A	G	19: 8,936,692	E480G	probably damaging	Het
Fam193a	A	G	5: 34,426,484	T336A	probably benign	Het
Fermt1	C	T	2: 132,941,932		probably benign	Het
Galnt4	T	A	10: 99,110,093	V560D	probably damaging	Het
Gbp5	C	T	3: 142,505,547	T346I	probably damaging	Het
Glrx	G	T	13: 75,847,198	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,654,782	T225S	probably damaging	Het
Grm3	A	G	5: 9,512,483	F456L	possibly damaging	Het
Gse1	T	G	8: 120,576,446	S1109A	unknown	Het
Gstp3	A	T	19: 4,058,573	L63Q	probably damaging	Het
Hapln3	G	A	7: 79,117,491	R267W	probably benign	Het
Herc4	T	A	10: 63,311,507	I801N	possibly damaging	Het
Ido1	G	T	8: 24,587,864	D153E	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnj9	T	A	1: 172,325,793	S255C	probably damaging	Het
Kpna3	T	C	14: 61,391,845	N39D	probably benign	Het
Krt39	A	T	11: 99,518,269	S269T	probably damaging	Het
Lfng	G	A	5: 140,613,223	V296I	probably benign	Het
Lrit3	T	A	3: 129,791,483	I209F	probably damaging	Het
Map4k5	T	A	12: 69,823,501	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328	P652L	probably benign	Het
Med30	G	A	15: 52,721,120	V145I	possibly damaging	Het
Megf6	T	A	4: 154,242,403	D163E	probably damaging	Het
Meltf	T	A	16: 31,890,704		probably benign	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mppe1	T	C	18: 67,237,401	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673	P1516S	probably benign	Het
Myo3b	C	A	2: 70,238,816	F494L	probably damaging	Het
Nedd4l	A	G	18: 65,165,617	T226A	probably benign	Het
Nod1	A	G	6: 54,944,292	V347A	probably benign	Het
Nup210	A	T	6: 91,042,253		probably null	Het
Nup210l	A	G	3: 90,118,625	R185G	probably damaging	Het
Olfr202	A	T	16: 59,284,089	M136K	probably damaging	Het
Olfr62	A	T	4: 118,666,305	M263L	probably benign	Het
Olfr957	A	G	9: 39,511,474	L82P	probably damaging	Het
Oma1	T	C	4: 103,353,632	L445S	probably damaging	Het
Oxsm	A	T	14: 16,242,677	F31I	probably benign	Het
Pdcd5	A	T	7: 35,647,370	M1K	probably null	Het
Pkd1l2	T	C	8: 117,013,876	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,492,151	S404C	probably null	Het
Plec	A	G	15: 76,194,360	V60A	unknown	Het
Prpsap2	A	G	11: 61,752,910	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804	L239P	probably damaging	Het
Ryr3	A	T	2: 112,753,050	Y2845*	probably null	Het
Spta1	T	C	1: 174,217,982	C1569R	probably damaging	Het
Stard13	G	A	5: 151,062,650	S465L	probably damaging	Het
Tmub1	A	T	5: 24,446,682	S80T	probably benign	Het
Trpv5	A	G	6: 41,670,913	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,503,782	A455V	probably benign	Het
Washc4	T	A	10: 83,570,018	N459K	probably damaging	Het
Wdr11	C	T	7: 129,605,713	R300*	probably null	Het
Zer1	A	G	2: 30,103,418	F559L	probably damaging	Het
Zfat	A	T	15: 68,180,670	V425D	probably damaging	Het
Zfp738	G	A	13: 67,669,791	L694F		Het
Zfp839	C	T	12: 110,868,843	A844V	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
IGL02657:Gbp2b	APN	3	142604112	missense	probably damaging	1.00
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
R8992:Gbp2b	UTSW	3	142610969	missense	probably benign	0.00
R9339:Gbp2b	UTSW	3	142611417	missense	probably benign	0.01
Z1177:Gbp2b	UTSW	3	142604316	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTGTCCCAGGGAAAGTACATG -3'
(R):5'- CATGATATCACAAACTTCCATTGAGCC -3'

Sequencing Primer
(F):5'- TCCCAGGGAAAGTACATGATCCATAG -3'
(R):5'- ACCTTTTCTCAGAGCCAGTGAAG -3'

Posted On

2021-08-02