Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03148:Gbp2b'

410982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp2b

Ensembl Gene

ENSMUSG00000040264

Gene Name

guanylate binding protein 2b

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03148

Quality Score

Status

Chromosome

Chromosomal Location

142300608-142324940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142312642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 342 (H342N)

Ref Sequence

ENSEMBL: ENSMUSP00000029936 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029936
AA Change: H342N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: H342N

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	G	11: 99,728,079 (GRCm39)	S255P	unknown	Het
Adamtsl2	T	A	2: 26,974,071 (GRCm39)	Y125N	probably damaging	Het
Ankrd9	T	C	12: 110,943,293 (GRCm39)	E214G	probably benign	Het
Bhmt2	T	A	13: 93,803,161 (GRCm39)	D124V	possibly damaging	Het
Ccdc150	A	G	1: 54,317,874 (GRCm39)	H271R	possibly damaging	Het
Clcn1	T	G	6: 42,276,925 (GRCm39)		probably null	Het
Col6a3	T	A	1: 90,755,588 (GRCm39)	I234F	probably benign	Het
Cpa5	T	A	6: 30,630,436 (GRCm39)	M330K	probably damaging	Het
Csmd2	G	A	4: 128,278,062 (GRCm39)	C995Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,144 (GRCm39)	E252G	probably damaging	Het
Dhrs1	A	T	14: 55,978,748 (GRCm39)	Y133*	probably null	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Dock10	T	C	1: 80,518,075 (GRCm39)	I1300V	probably benign	Het
Efcab12	T	C	6: 115,787,952 (GRCm39)	Y670C	probably damaging	Het
Frg1	T	G	8: 41,864,321 (GRCm39)	K66N	probably benign	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Kcnh1	T	G	1: 191,959,307 (GRCm39)	I287S	probably damaging	Het
Map1b	A	G	13: 99,578,203 (GRCm39)	L150P	probably damaging	Het
Map3k4	C	T	17: 12,457,045 (GRCm39)	R1299Q	probably benign	Het
Mapk10	T	C	5: 103,073,971 (GRCm39)	N407D	probably damaging	Het
Mcemp1	T	A	8: 3,717,390 (GRCm39)		probably null	Het
Nav1	A	C	1: 135,397,762 (GRCm39)	N802K	possibly damaging	Het
Pcdhb2	T	A	18: 37,429,831 (GRCm39)	N601K	probably damaging	Het
Pi4ka	T	A	16: 17,172,053 (GRCm39)	H564L	probably damaging	Het
Pnp	T	A	14: 51,188,185 (GRCm39)		probably benign	Het
Ppp2r2a	G	T	14: 67,259,744 (GRCm39)	N317K	probably benign	Het
Pramel47	A	G	5: 95,489,177 (GRCm39)	T207A	possibly damaging	Het
Rars2	A	T	4: 34,650,243 (GRCm39)	I343F	possibly damaging	Het
Rnf213	T	C	11: 119,355,833 (GRCm39)	F4092S	probably damaging	Het
Tcp11	A	G	17: 28,289,444 (GRCm39)	V209A	possibly damaging	Het
Tet2	T	C	3: 133,187,124 (GRCm39)	S1102G	probably benign	Het

Other mutations in Gbp2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Gbp2b	APN	3	142,304,073 (GRCm39)	missense	probably damaging	1.00
IGL01892:Gbp2b	APN	3	142,309,381 (GRCm39)	missense	probably benign	0.03
IGL01989:Gbp2b	APN	3	142,317,201 (GRCm39)	missense	probably benign	0.19
IGL02019:Gbp2b	APN	3	142,312,751 (GRCm39)	missense	possibly damaging	0.52
IGL02338:Gbp2b	APN	3	142,309,987 (GRCm39)	missense	probably benign	0.09
IGL02657:Gbp2b	APN	3	142,309,873 (GRCm39)	missense	probably damaging	1.00
FR4304:Gbp2b	UTSW	3	142,309,413 (GRCm39)	missense	probably benign	0.00
FR4340:Gbp2b	UTSW	3	142,309,413 (GRCm39)	missense	probably benign	0.00
FR4342:Gbp2b	UTSW	3	142,309,413 (GRCm39)	missense	probably benign	0.00
FR4589:Gbp2b	UTSW	3	142,309,413 (GRCm39)	missense	probably benign	0.00
R0329:Gbp2b	UTSW	3	142,313,937 (GRCm39)	missense	probably benign	0.01
R0345:Gbp2b	UTSW	3	142,313,944 (GRCm39)	missense	probably damaging	1.00
R0358:Gbp2b	UTSW	3	142,312,550 (GRCm39)	missense	probably damaging	1.00
R0732:Gbp2b	UTSW	3	142,312,739 (GRCm39)	missense	probably benign
R1163:Gbp2b	UTSW	3	142,304,857 (GRCm39)	missense	probably damaging	1.00
R1550:Gbp2b	UTSW	3	142,312,591 (GRCm39)	missense	probably damaging	0.99
R1629:Gbp2b	UTSW	3	142,316,735 (GRCm39)	missense	possibly damaging	0.93
R1886:Gbp2b	UTSW	3	142,314,063 (GRCm39)	missense	probably benign
R1887:Gbp2b	UTSW	3	142,314,063 (GRCm39)	missense	probably benign
R2188:Gbp2b	UTSW	3	142,314,040 (GRCm39)	missense	probably benign	0.44
R2261:Gbp2b	UTSW	3	142,312,496 (GRCm39)	missense	probably benign	0.00
R3977:Gbp2b	UTSW	3	142,309,470 (GRCm39)	missense	probably benign	0.02
R4718:Gbp2b	UTSW	3	142,304,756 (GRCm39)	missense	probably damaging	1.00
R4788:Gbp2b	UTSW	3	142,317,171 (GRCm39)	missense	probably benign	0.21
R4807:Gbp2b	UTSW	3	142,304,006 (GRCm39)	missense	probably benign	0.02
R5042:Gbp2b	UTSW	3	142,317,224 (GRCm39)	missense	probably benign	0.03
R5087:Gbp2b	UTSW	3	142,304,015 (GRCm39)	missense	probably damaging	1.00
R5114:Gbp2b	UTSW	3	142,303,946 (GRCm39)	missense	probably damaging	1.00
R5414:Gbp2b	UTSW	3	142,304,852 (GRCm39)	missense	probably damaging	1.00
R5567:Gbp2b	UTSW	3	142,317,126 (GRCm39)	missense	possibly damaging	0.75
R5625:Gbp2b	UTSW	3	142,304,806 (GRCm39)	missense	probably damaging	1.00
R5685:Gbp2b	UTSW	3	142,313,919 (GRCm39)	missense	probably benign
R6030:Gbp2b	UTSW	3	142,309,414 (GRCm39)	missense	probably benign	0.00
R6030:Gbp2b	UTSW	3	142,309,414 (GRCm39)	missense	probably benign	0.00
R6408:Gbp2b	UTSW	3	142,323,899 (GRCm39)	missense	probably benign	0.00
R6500:Gbp2b	UTSW	3	142,317,252 (GRCm39)	missense	probably benign	0.06
R6581:Gbp2b	UTSW	3	142,313,999 (GRCm39)	nonsense	probably null
R6582:Gbp2b	UTSW	3	142,316,801 (GRCm39)	missense	possibly damaging	0.53
R6847:Gbp2b	UTSW	3	142,303,940 (GRCm39)	missense	probably damaging	0.96
R6923:Gbp2b	UTSW	3	142,306,320 (GRCm39)	missense	probably benign	0.01
R7120:Gbp2b	UTSW	3	142,312,507 (GRCm39)	missense	probably benign	0.01
R7255:Gbp2b	UTSW	3	142,313,878 (GRCm39)	missense	probably damaging	1.00
R7454:Gbp2b	UTSW	3	142,303,920 (GRCm39)	missense	possibly damaging	0.75
R7643:Gbp2b	UTSW	3	142,309,370 (GRCm39)	missense	probably benign	0.07
R8039:Gbp2b	UTSW	3	142,323,925 (GRCm39)	missense	probably benign	0.02
R8312:Gbp2b	UTSW	3	142,304,815 (GRCm39)	missense	probably damaging	0.96
R8312:Gbp2b	UTSW	3	142,304,812 (GRCm39)	missense	probably benign
R8391:Gbp2b	UTSW	3	142,309,894 (GRCm39)	missense	probably damaging	1.00
R8418:Gbp2b	UTSW	3	142,309,466 (GRCm39)	missense	probably benign	0.01
R8721:Gbp2b	UTSW	3	142,312,705 (GRCm39)	missense	possibly damaging	0.93
R8842:Gbp2b	UTSW	3	142,312,576 (GRCm39)	missense	probably benign
R8849:Gbp2b	UTSW	3	142,313,913 (GRCm39)	missense	probably benign	0.00
R8874:Gbp2b	UTSW	3	142,314,040 (GRCm39)	missense	probably benign	0.03
R8896:Gbp2b	UTSW	3	142,309,327 (GRCm39)	missense	probably damaging	1.00
R8992:Gbp2b	UTSW	3	142,316,730 (GRCm39)	missense	probably benign	0.00
R9339:Gbp2b	UTSW	3	142,317,178 (GRCm39)	missense	probably benign	0.01
R9752:Gbp2b	UTSW	3	142,313,917 (GRCm39)	missense	probably benign	0.16
Z1177:Gbp2b	UTSW	3	142,310,077 (GRCm39)	missense	possibly damaging	0.90

Posted On

2016-08-02