Incidental Mutation 'R8418:Gbp2b'
ID |
653025 |
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 |
067897-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8418 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142309466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 192
(E192D)
|
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: E192D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000029936 Gene: ENSMUSG00000040264 AA Change: E192D
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: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf2 |
T |
C |
17: 43,021,477 (GRCm39) |
H449R |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,698,468 (GRCm39) |
V646A |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc62 |
C |
T |
5: 124,084,455 (GRCm39) |
R279* |
probably null |
Het |
Cimip2b |
A |
G |
4: 43,427,204 (GRCm39) |
L76P |
unknown |
Het |
Col6a5 |
G |
T |
9: 105,755,821 (GRCm39) |
P2201Q |
probably damaging |
Het |
Cpa3 |
T |
C |
3: 20,276,315 (GRCm39) |
Y306C |
probably damaging |
Het |
Cpne9 |
A |
G |
6: 113,260,398 (GRCm39) |
N82D |
possibly damaging |
Het |
Dcaf17 |
T |
A |
2: 70,918,717 (GRCm39) |
D430E |
probably damaging |
Het |
Dcst2 |
T |
C |
3: 89,278,901 (GRCm39) |
V546A |
probably benign |
Het |
Dennd1a |
T |
C |
2: 37,748,403 (GRCm39) |
T359A |
probably benign |
Het |
Dgkb |
C |
A |
12: 38,380,016 (GRCm39) |
H591N |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 117,994,284 (GRCm39) |
S1047F |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,609,795 (GRCm39) |
I215T |
probably benign |
Het |
Efcab12 |
A |
G |
6: 115,799,076 (GRCm39) |
|
probably null |
Het |
Erich3 |
C |
T |
3: 154,415,378 (GRCm39) |
R165C |
|
Het |
Gabrr1 |
C |
T |
4: 33,162,615 (GRCm39) |
R394* |
probably null |
Het |
Garnl3 |
G |
T |
2: 32,942,158 (GRCm39) |
Q153K |
possibly damaging |
Het |
Gars1 |
A |
G |
6: 55,042,446 (GRCm39) |
N393S |
probably damaging |
Het |
Gm28360 |
A |
T |
1: 117,781,357 (GRCm39) |
H116L |
probably benign |
Het |
Gm9602 |
T |
A |
14: 15,935,348 (GRCm39) |
|
probably benign |
Het |
Gp1bb |
T |
A |
16: 18,440,103 (GRCm39) |
H5L |
unknown |
Het |
Grik3 |
A |
G |
4: 125,579,835 (GRCm39) |
K527E |
possibly damaging |
Het |
Hhip |
T |
C |
8: 80,771,714 (GRCm39) |
M199V |
probably damaging |
Het |
Irgm1 |
A |
G |
11: 48,757,166 (GRCm39) |
V231A |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,929,454 (GRCm39) |
I1124F |
probably benign |
Het |
Kash5 |
A |
G |
7: 44,843,501 (GRCm39) |
L241P |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Miga1 |
T |
G |
3: 151,990,954 (GRCm39) |
Y433S |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,430,926 (GRCm39) |
I8062K |
possibly damaging |
Het |
Ntsr2 |
T |
G |
12: 16,706,662 (GRCm39) |
V230G |
possibly damaging |
Het |
Or52ab2 |
A |
G |
7: 102,970,278 (GRCm39) |
Y220C |
|
Het |
Ptpn2 |
G |
A |
18: 67,814,592 (GRCm39) |
T139M |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,760,245 (GRCm39) |
D145E |
possibly damaging |
Het |
Radil |
T |
C |
5: 142,480,676 (GRCm39) |
E593G |
probably benign |
Het |
Rdh14 |
T |
C |
12: 10,444,580 (GRCm39) |
F144L |
probably damaging |
Het |
Sec23ip |
T |
G |
7: 128,380,187 (GRCm39) |
D867E |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,613,187 (GRCm39) |
Y371C |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,148,233 (GRCm39) |
I254N |
probably damaging |
Het |
Tacc1 |
T |
C |
8: 25,731,532 (GRCm39) |
K7E |
probably damaging |
Het |
Thoc2l |
C |
A |
5: 104,667,724 (GRCm39) |
Q749K |
possibly damaging |
Het |
Timeless |
A |
C |
10: 128,086,605 (GRCm39) |
N1048T |
probably benign |
Het |
Tll2 |
C |
A |
19: 41,081,276 (GRCm39) |
E732D |
probably damaging |
Het |
Tmem171 |
A |
G |
13: 98,828,740 (GRCm39) |
S137P |
probably damaging |
Het |
Ttll3 |
A |
T |
6: 113,371,734 (GRCm39) |
M44L |
probably benign |
Het |
Vmn2r29 |
T |
A |
7: 7,244,939 (GRCm39) |
I312L |
probably benign |
Het |
Vmn2r43 |
A |
T |
7: 8,258,583 (GRCm39) |
L210* |
probably null |
Het |
Vmn2r60 |
A |
G |
7: 41,844,850 (GRCm39) |
I738V |
probably damaging |
Het |
Zfp977 |
T |
A |
7: 42,229,410 (GRCm39) |
M372L |
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 |
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 |
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'- AGTTTTCTTAACTTCACATGCCAGC -3'
(R):5'- ACAAGCCCTCTGAGAAGCTG -3'
Sequencing Primer
(F):5'- TTCACATGCCAGCTATGTGACAG -3'
(R):5'- CCCTCTGAGAAGCTGTGGATG -3'
|
Posted On |
2020-10-20 |