Incidental Mutation 'R7255:Gbp2b'
ID |
564185 |
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 |
045316-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7255 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 142313878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 386
(L386Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029936]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029936
AA Change: L386Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029936 Gene: ENSMUSG00000040264 AA Change: L386Q
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
18 |
280 |
4.1e-122 |
PFAM |
Pfam:GBP_C
|
282 |
578 |
5.5e-125 |
PFAM |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (66/68) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
A |
G |
19: 20,692,092 (GRCm39) |
S234P |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,159,999 (GRCm39) |
H650R |
probably damaging |
Het |
Asic1 |
A |
G |
15: 99,595,338 (GRCm39) |
D355G |
probably damaging |
Het |
Atp8b1 |
T |
A |
18: 64,689,939 (GRCm39) |
S598C |
probably damaging |
Het |
Bcat1 |
C |
A |
6: 144,978,511 (GRCm39) |
E237* |
probably null |
Het |
Btbd16 |
A |
T |
7: 130,387,722 (GRCm39) |
I114F |
probably benign |
Het |
Casp2 |
A |
G |
6: 42,245,841 (GRCm39) |
D166G |
probably damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Cpsf1 |
G |
A |
15: 76,481,743 (GRCm39) |
T1099M |
probably damaging |
Het |
Crisp4 |
C |
A |
1: 18,200,455 (GRCm39) |
A116S |
probably damaging |
Het |
Cyb5r3 |
A |
G |
15: 83,044,366 (GRCm39) |
I168T |
probably damaging |
Het |
Dip2b |
G |
A |
15: 100,107,508 (GRCm39) |
D1407N |
probably benign |
Het |
Dnajc8 |
A |
G |
4: 132,278,884 (GRCm39) |
K201R |
probably benign |
Het |
Dock10 |
C |
T |
1: 80,520,816 (GRCm39) |
|
probably null |
Het |
Dop1b |
C |
A |
16: 93,567,034 (GRCm39) |
H1272N |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,230,330 (GRCm39) |
R325Q |
probably benign |
Het |
Enpp1 |
A |
T |
10: 24,521,213 (GRCm39) |
I838K |
possibly damaging |
Het |
Fcna |
T |
G |
2: 25,516,040 (GRCm39) |
D159A |
probably damaging |
Het |
Flnc |
G |
T |
6: 29,445,765 (GRCm39) |
G840C |
probably damaging |
Het |
Flt1 |
C |
T |
5: 147,517,216 (GRCm39) |
A1024T |
probably damaging |
Het |
Galc |
T |
C |
12: 98,212,514 (GRCm39) |
K207R |
probably null |
Het |
Gm8297 |
T |
A |
14: 16,165,868 (GRCm39) |
N48K |
probably damaging |
Het |
Gm9639 |
G |
A |
10: 77,630,372 (GRCm39) |
P180L |
unknown |
Het |
Inpp5a |
A |
G |
7: 139,091,364 (GRCm39) |
N116S |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,313,726 (GRCm39) |
E984G |
probably benign |
Het |
Klra4 |
A |
G |
6: 130,036,605 (GRCm39) |
F145L |
probably damaging |
Het |
Lag3 |
A |
G |
6: 124,887,198 (GRCm39) |
L123P |
probably benign |
Het |
Lyz3 |
T |
C |
10: 117,070,327 (GRCm39) |
H150R |
probably benign |
Het |
Med7 |
T |
A |
11: 46,331,822 (GRCm39) |
M139K |
probably damaging |
Het |
Mfsd2a |
A |
C |
4: 122,845,814 (GRCm39) |
L153R |
possibly damaging |
Het |
Mup9 |
A |
G |
4: 60,377,336 (GRCm39) |
V71A |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,549,169 (GRCm39) |
Q927L |
unknown |
Het |
Myo9b |
T |
C |
8: 71,743,535 (GRCm39) |
Y199H |
probably damaging |
Het |
Nefm |
A |
G |
14: 68,353,449 (GRCm39) |
F406L |
probably benign |
Het |
Or10ag2 |
T |
A |
2: 87,249,286 (GRCm39) |
L296Q |
probably damaging |
Het |
Or10ak11 |
A |
T |
4: 118,687,149 (GRCm39) |
F162I |
probably benign |
Het |
Pamr1 |
T |
C |
2: 102,441,929 (GRCm39) |
F173L |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,720,132 (GRCm39) |
D1205E |
probably benign |
Het |
Plxna2 |
T |
G |
1: 194,434,411 (GRCm39) |
F646V |
probably benign |
Het |
Pnrc1 |
C |
T |
4: 33,248,045 (GRCm39) |
G118D |
probably benign |
Het |
Ppp1r16b |
T |
C |
2: 158,603,311 (GRCm39) |
F412S |
probably benign |
Het |
Prcc |
A |
T |
3: 87,777,398 (GRCm39) |
V192E |
probably damaging |
Het |
Psg19 |
A |
G |
7: 18,527,973 (GRCm39) |
Y257H |
probably benign |
Het |
Rfx7 |
T |
G |
9: 72,527,110 (GRCm39) |
S1433R |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Sanbr |
G |
A |
11: 23,570,465 (GRCm39) |
P145L |
probably benign |
Het |
Sbspon |
G |
T |
1: 15,954,021 (GRCm39) |
C86* |
probably null |
Het |
Sdhb |
A |
G |
4: 140,704,729 (GRCm39) |
E230G |
possibly damaging |
Het |
Sema6b |
T |
C |
17: 56,432,336 (GRCm39) |
T581A |
probably benign |
Het |
Shkbp1 |
G |
T |
7: 27,042,173 (GRCm39) |
T594K |
possibly damaging |
Het |
Shpk |
A |
G |
11: 73,090,486 (GRCm39) |
S48G |
probably benign |
Het |
Slc1a3 |
A |
G |
15: 8,672,483 (GRCm39) |
V332A |
possibly damaging |
Het |
Slc25a25 |
T |
C |
2: 32,311,384 (GRCm39) |
E135G |
possibly damaging |
Het |
Slc5a8 |
A |
T |
10: 88,745,493 (GRCm39) |
D367V |
probably damaging |
Het |
Slco1c1 |
A |
G |
6: 141,515,051 (GRCm39) |
T649A |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spats1 |
T |
A |
17: 45,765,131 (GRCm39) |
D163V |
probably damaging |
Het |
Ssh2 |
T |
A |
11: 77,316,419 (GRCm39) |
M304K |
probably damaging |
Het |
Sulf1 |
T |
A |
1: 12,929,232 (GRCm39) |
D166E |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,283,446 (GRCm39) |
S1540P |
probably damaging |
Het |
Tcf7l1 |
A |
T |
6: 72,604,330 (GRCm39) |
|
probably null |
Het |
Tet1 |
A |
T |
10: 62,658,415 (GRCm39) |
M1477K |
probably benign |
Het |
Tlr5 |
T |
C |
1: 182,801,881 (GRCm39) |
F395S |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,795,764 (GRCm39) |
L3847P |
probably damaging |
Het |
Tsks |
C |
T |
7: 44,602,112 (GRCm39) |
S276L |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,185,187 (GRCm39) |
E1519G |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,631,703 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
G |
14: 32,696,239 (GRCm39) |
V2768A |
|
Het |
Wdr26 |
A |
C |
1: 181,008,889 (GRCm39) |
I627R |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,245,749 (GRCm39) |
S100T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTCTAAGTCAGGAAGGGTGG -3'
(R):5'- CCAACAGCTGAGTTTACCTGGAG -3'
Sequencing Primer
(F):5'- TGGGCAGAAGGAGGGATGC -3'
(R):5'- GAGTCCCTTTCCAGGAGTCTG -3'
|
Posted On |
2019-06-26 |