Mutagenetix > Incidental Mutations

Incidental Mutation 'R7643:Gbp2b'

590338

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 #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142594847-142619179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142603609 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 160 (Q160H)

Ref Sequence

ENSEMBL: ENSMUSP00000029936 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029936
AA Change: Q160H

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: Q160H

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: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	A	G	16: 38,827,863	Y295H	probably benign	Het
4931406C07Rik	A	G	9: 15,297,860	F46S	probably damaging	Het
Acaca	T	C	11: 84,338,356	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,053,832	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,593,568	Q1050L	probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,473,085	V395A	probably benign	Het
Ap3b2	T	C	7: 81,477,072	K310R	probably benign	Het
Bnc2	T	C	4: 84,506,574	D123G	probably benign	Het
Bst1	G	A	5: 43,840,449	M263I	probably benign	Het
Ccdc7a	C	T	8: 128,889,811	G937E	probably damaging	Het
Cep290	A	G	10: 100,537,553	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,553,585	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,602,813	H1203L	probably benign	Het
Emc7	A	G	2: 112,455,279	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,421,935		probably benign	Het
Fam83c	A	G	2: 155,831,004	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,200,225	V180L	probably benign	Het
Gm19965	C	G	1: 116,822,229	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gon4l	T	A	3: 88,902,807	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,717,816	Y303*	probably null	Het
Greb1	T	C	12: 16,711,996	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950	N36S	probably benign	Het
Hacd1	T	C	2: 14,044,791	I119V	probably damaging	Het
Ing5	T	A	1: 93,812,433	D101E	probably damaging	Het
Irak4	T	A	15: 94,558,828	N297K	probably benign	Het
Itga7	A	G	10: 128,953,501	D971G	probably benign	Het
Klf5	A	G	14: 99,313,178	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,978,198	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,020,527		probably null	Het
March4	T	G	1: 72,447,220	Q266H	probably damaging	Het
Med23	A	G	10: 24,905,965	T1056A	probably benign	Het
Megf11	T	C	9: 64,706,632	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,346,265	L85I	probably benign	Het
Nlgn2	G	T	11: 69,827,885	Q290K	probably damaging	Het
Nox4	A	T	7: 87,323,754	E323V	probably damaging	Het
Nup93	T	C	8: 94,286,619		probably null	Het
Olfr298	C	T	7: 86,489,568		probably null	Het
Olfr558	C	T	7: 102,709,538	T93I	probably benign	Het
Olfr977-ps1	T	A	9: 39,974,821	M1L	unknown	Het
Otop3	T	C	11: 115,339,648	L117P	probably damaging	Het
Pde6c	C	A	19: 38,141,421	Q260K	probably damaging	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Qser1	A	T	2: 104,786,977	Y1163*	probably null	Het
Rbm12	A	T	2: 156,098,217	I45N	unknown	Het
Rictor	T	A	15: 6,769,269	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325	S83*	probably null	Het
Sel1l3	C	T	5: 53,123,162		probably null	Het
Setd2	T	C	9: 110,567,840		probably null	Het
Spink5	A	G	18: 44,010,252	T759A	probably benign	Het
Spon2	T	A	5: 33,217,456	E2V	probably benign	Het
Tdrd1	T	C	19: 56,837,708	S144P	probably damaging	Het
Tex15	A	C	8: 33,575,120	Y1526S	probably damaging	Het
Tnfrsf21	T	C	17: 43,037,916	S140P	probably benign	Het
Trav6-2	T	A	14: 52,667,442	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,247,814		probably null	Het
Ttn	T	C	2: 76,734,827	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,573,106	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333	S211T	probably benign	Het
Zcchc4	T	C	5: 52,808,293	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,512,734	R1811K	probably benign	Het
Zfp599	G	T	9: 22,249,892	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,309,525	M108K	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
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
Z1177:Gbp2b	UTSW	3	142604316	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTGTCCCAGGGAAAGTACATGATC -3'
(R):5'- TGATATCACAAACTTCCATTGAGCC -3'

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

Posted On

2019-10-24