Incidental Mutation 'R7643:Gbp2b'
ID |
590338 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp2b
|
Ensembl Gene |
ENSMUSG00000040264 |
Gene Name |
guanylate binding protein 2b |
Synonyms |
Mag-1, Mpa-1, Mpa1, Gbp-1, Gbp1 |
MMRRC Submission |
045700-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7643 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 142309370 bp (GRCm39)
|
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]
|
AlphaFold |
no structure available at present |
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 |
4931406C07Rik |
A |
G |
9: 15,209,156 (GRCm39) |
F46S |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,229,182 (GRCm39) |
Y1670H |
probably damaging |
Het |
Acrbp |
G |
A |
6: 125,030,795 (GRCm39) |
R272Q |
possibly damaging |
Het |
Adcy6 |
T |
A |
15: 98,491,449 (GRCm39) |
Q1050L |
probably benign |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Ankrd13b |
A |
G |
11: 77,363,911 (GRCm39) |
V395A |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,126,820 (GRCm39) |
K310R |
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,424,811 (GRCm39) |
D123G |
probably benign |
Het |
Bst1 |
G |
A |
5: 43,997,791 (GRCm39) |
M263I |
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,616,292 (GRCm39) |
G937E |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,373,415 (GRCm39) |
M1232V |
probably benign |
Het |
Cfhr1 |
A |
G |
1: 139,481,323 (GRCm39) |
Y186H |
possibly damaging |
Het |
Dnah7c |
A |
T |
1: 46,641,973 (GRCm39) |
H1203L |
probably benign |
Het |
Emc7 |
A |
G |
2: 112,285,624 (GRCm39) |
E71G |
probably benign |
Het |
Exoc3l4 |
G |
A |
12: 111,388,369 (GRCm39) |
|
probably benign |
Het |
Fam83c |
A |
G |
2: 155,672,924 (GRCm39) |
F278L |
possibly damaging |
Het |
Gabpb2 |
C |
A |
3: 95,107,536 (GRCm39) |
V180L |
probably benign |
Het |
Gm19965 |
C |
G |
1: 116,749,959 (GRCm39) |
Q547E |
unknown |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gon4l |
T |
A |
3: 88,810,114 (GRCm39) |
D1774E |
probably damaging |
Het |
Gpr15 |
A |
C |
16: 58,538,179 (GRCm39) |
Y303* |
probably null |
Het |
Greb1 |
T |
C |
12: 16,761,997 (GRCm39) |
D461G |
probably damaging |
Het |
Gria4 |
T |
C |
9: 4,793,950 (GRCm39) |
N36S |
probably benign |
Het |
Hacd1 |
T |
C |
2: 14,049,602 (GRCm39) |
I119V |
probably damaging |
Het |
Ing5 |
T |
A |
1: 93,740,155 (GRCm39) |
D101E |
probably damaging |
Het |
Irak4 |
T |
A |
15: 94,456,709 (GRCm39) |
N297K |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
Klf5 |
A |
G |
14: 99,550,614 (GRCm39) |
E397G |
possibly damaging |
Het |
Krtap29-1 |
C |
T |
11: 99,869,024 (GRCm39) |
G286S |
probably damaging |
Het |
Lrp2bp |
A |
T |
8: 46,473,564 (GRCm39) |
|
probably null |
Het |
Marchf4 |
T |
G |
1: 72,486,379 (GRCm39) |
Q266H |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,781,863 (GRCm39) |
T1056A |
probably benign |
Het |
Megf11 |
T |
C |
9: 64,613,914 (GRCm39) |
L1079P |
probably damaging |
Het |
Mycbp2 |
G |
T |
14: 103,583,701 (GRCm39) |
L85I |
probably benign |
Het |
Nlgn2 |
G |
T |
11: 69,718,711 (GRCm39) |
Q290K |
probably damaging |
Het |
Nox4 |
A |
T |
7: 86,972,962 (GRCm39) |
E323V |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,013,247 (GRCm39) |
|
probably null |
Het |
Or10d5b |
T |
A |
9: 39,886,117 (GRCm39) |
M1L |
unknown |
Het |
Or14a257 |
C |
T |
7: 86,138,776 (GRCm39) |
|
probably null |
Het |
Or51e1 |
C |
T |
7: 102,358,745 (GRCm39) |
T93I |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,230,474 (GRCm39) |
L117P |
probably damaging |
Het |
Pde6c |
C |
A |
19: 38,129,869 (GRCm39) |
Q260K |
probably damaging |
Het |
Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
Rbm12 |
A |
T |
2: 155,940,137 (GRCm39) |
I45N |
unknown |
Het |
Rictor |
T |
A |
15: 6,798,750 (GRCm39) |
Y332* |
probably null |
Het |
Rpp14 |
C |
A |
14: 8,090,325 (GRCm38) |
S83* |
probably null |
Het |
Sel1l3 |
C |
T |
5: 53,280,504 (GRCm39) |
|
probably null |
Het |
Setd2 |
T |
C |
9: 110,396,908 (GRCm39) |
|
probably null |
Het |
Spink5 |
A |
G |
18: 44,143,319 (GRCm39) |
T759A |
probably benign |
Het |
Spon2 |
T |
A |
5: 33,374,800 (GRCm39) |
E2V |
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,826,140 (GRCm39) |
S144P |
probably damaging |
Het |
Tex15 |
A |
C |
8: 34,065,148 (GRCm39) |
Y1526S |
probably damaging |
Het |
Tex55 |
A |
G |
16: 38,648,225 (GRCm39) |
Y295H |
probably benign |
Het |
Tnfrsf21 |
T |
C |
17: 43,348,807 (GRCm39) |
S140P |
probably benign |
Het |
Trav6-2 |
T |
A |
14: 52,904,899 (GRCm39) |
M11K |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,078,295 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,565,171 (GRCm39) |
N28352S |
possibly damaging |
Het |
Uckl1 |
T |
C |
2: 181,214,899 (GRCm39) |
I292V |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,216,333 (GRCm39) |
S211T |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,965,635 (GRCm39) |
I313T |
possibly damaging |
Het |
Zfp106 |
C |
T |
2: 120,343,215 (GRCm39) |
R1811K |
probably benign |
Het |
Zfp599 |
G |
T |
9: 22,161,188 (GRCm39) |
Q326K |
probably benign |
Het |
Zscan4e |
A |
T |
7: 11,043,452 (GRCm39) |
M108K |
probably damaging |
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 |
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 |
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 |
|
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 |