Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01892:Gbp2b'

179262

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 #

IGL01892

Quality Score

Status

Chromosome

Chromosomal Location

142300608-142324940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142309381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 164 (D164G)

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: D164G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: D164G

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cplane1	A	T	15: 8,271,749 (GRCm39)		probably benign	Het
Cyp2c68	T	A	19: 39,722,788 (GRCm39)	E253D	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Lct	G	T	1: 128,235,342 (GRCm39)	T555N	probably damaging	Het
Ncam2	T	A	16: 81,386,587 (GRCm39)	H655Q	possibly damaging	Het
Or52a24	A	T	7: 103,381,687 (GRCm39)	M185L	possibly damaging	Het
Or8b57	C	A	9: 40,004,114 (GRCm39)	L45F	probably damaging	Het
Pglyrp4	A	G	3: 90,646,348 (GRCm39)	N293S	probably benign	Het
Pofut2	C	A	10: 77,101,717 (GRCm39)	D251E	probably benign	Het
Prdm2	T	C	4: 142,860,974 (GRCm39)	E772G	probably damaging	Het
Prkd3	A	T	17: 79,279,930 (GRCm39)	D254E	probably benign	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Pwp2	T	C	10: 78,014,841 (GRCm39)	Y381C	probably damaging	Het
Rasgrp1	G	A	2: 117,124,323 (GRCm39)	T293M	probably damaging	Het
Snd1	G	A	6: 28,888,123 (GRCm39)		probably null	Het
Suclg2	A	T	6: 95,556,169 (GRCm39)	D237E	probably damaging	Het
Tenm3	T	C	8: 48,729,431 (GRCm39)	N1509S	probably benign	Het
Thbd	A	T	2: 148,248,988 (GRCm39)	H293Q	possibly damaging	Het
Tie1	T	A	4: 118,333,115 (GRCm39)	Y871F	probably benign	Het
Vmn1r38	A	T	6: 66,753,360 (GRCm39)	V252D	probably benign	Het
Vmn1r60	C	A	7: 5,547,309 (GRCm39)	V264F	probably benign	Het
Vmn1r68	T	C	7: 10,261,334 (GRCm39)	T255A	possibly damaging	Het
Vmn2r49	A	T	7: 9,718,690 (GRCm39)	V458E	probably benign	Het
Vmn2r9	A	T	5: 108,995,700 (GRCm39)	V316D	probably damaging	Het
Wfdc15b	A	T	2: 164,057,388 (GRCm39)	M1K	probably null	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
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
IGL03148:Gbp2b	APN	3	142,312,642 (GRCm39)	missense	probably benign	0.00
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

2014-05-07