Incidental Mutation 'R5685:Gbp2b'
ID |
443270 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5685 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 142313919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 400
(M400L)
|
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: M400L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029936 Gene: ENSMUSG00000040264 AA Change: M400L
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: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028J19Rik |
T |
A |
7: 43,879,974 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
A |
T |
12: 118,896,348 (GRCm39) |
|
probably null |
Het |
Abcg1 |
G |
T |
17: 31,317,260 (GRCm39) |
E191* |
probably null |
Het |
Als2 |
A |
G |
1: 59,218,250 (GRCm39) |
Y1263H |
possibly damaging |
Het |
Amer2 |
T |
A |
14: 60,617,026 (GRCm39) |
L281* |
probably null |
Het |
Anxa6 |
T |
C |
11: 54,887,196 (GRCm39) |
N361D |
probably benign |
Het |
Ap1g1 |
A |
T |
8: 110,564,415 (GRCm39) |
N320I |
probably damaging |
Het |
Aqr |
T |
C |
2: 113,986,746 (GRCm39) |
D208G |
possibly damaging |
Het |
Arnt2 |
T |
C |
7: 83,912,473 (GRCm39) |
T545A |
probably benign |
Het |
Aspm |
G |
A |
1: 139,415,026 (GRCm39) |
V2701I |
probably benign |
Het |
Atad2 |
A |
G |
15: 57,980,194 (GRCm39) |
V106A |
possibly damaging |
Het |
Bbs2 |
A |
C |
8: 94,814,061 (GRCm39) |
F186V |
probably damaging |
Het |
Catsperg2 |
G |
A |
7: 29,400,613 (GRCm39) |
P247L |
probably damaging |
Het |
Cfap57 |
G |
T |
4: 118,426,656 (GRCm39) |
Q1098K |
probably benign |
Het |
Cxcr6 |
A |
G |
9: 123,639,811 (GRCm39) |
T271A |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,374,091 (GRCm39) |
E579G |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,421,932 (GRCm39) |
T2111A |
probably damaging |
Het |
Galnt1 |
A |
T |
18: 24,397,586 (GRCm39) |
D229V |
possibly damaging |
Het |
Gm1123 |
T |
A |
9: 98,891,486 (GRCm39) |
|
probably null |
Het |
Gtpbp6 |
T |
C |
5: 110,252,805 (GRCm39) |
H349R |
probably damaging |
Het |
Hyal5 |
A |
G |
6: 24,876,691 (GRCm39) |
K188R |
probably benign |
Het |
Insrr |
T |
C |
3: 87,707,803 (GRCm39) |
|
probably null |
Het |
Kcnn1 |
A |
T |
8: 71,305,374 (GRCm39) |
C322S |
probably damaging |
Het |
Kdelr1 |
GTCTA |
G |
7: 45,531,041 (GRCm39) |
|
probably null |
Het |
Kif23 |
T |
C |
9: 61,852,691 (GRCm39) |
T8A |
probably benign |
Het |
Lrrk2 |
A |
T |
15: 91,687,504 (GRCm39) |
R2198* |
probably null |
Het |
Mcl1 |
T |
G |
3: 95,567,109 (GRCm39) |
D177E |
possibly damaging |
Het |
Mrps11 |
A |
T |
7: 78,441,628 (GRCm39) |
T137S |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,426,168 (GRCm39) |
Y90C |
probably damaging |
Het |
Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
Nxt1 |
G |
T |
2: 148,517,673 (GRCm39) |
W138L |
possibly damaging |
Het |
Or5al1 |
T |
C |
2: 85,990,139 (GRCm39) |
T192A |
probably damaging |
Het |
Or5h17 |
T |
A |
16: 58,820,709 (GRCm39) |
F220L |
probably benign |
Het |
Or5t17 |
T |
A |
2: 86,832,621 (GRCm39) |
S103T |
probably benign |
Het |
Osbpl7 |
C |
A |
11: 96,951,103 (GRCm39) |
P478H |
probably damaging |
Het |
Phf8-ps |
T |
A |
17: 33,285,746 (GRCm39) |
H352L |
probably benign |
Het |
Pitpna |
T |
A |
11: 75,511,095 (GRCm39) |
F222I |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,877,310 (GRCm39) |
R552W |
probably damaging |
Het |
Plxnb2 |
C |
T |
15: 89,051,235 (GRCm39) |
R328H |
probably damaging |
Het |
Pmaip1 |
C |
T |
18: 66,594,055 (GRCm39) |
T65I |
probably benign |
Het |
Ppil4 |
T |
G |
10: 7,674,186 (GRCm39) |
I110S |
probably damaging |
Het |
Prpf38a |
A |
G |
4: 108,427,351 (GRCm39) |
|
probably null |
Het |
Psme4 |
G |
A |
11: 30,759,837 (GRCm39) |
G320D |
probably damaging |
Het |
Rab17 |
C |
A |
1: 90,886,679 (GRCm39) |
R191L |
probably benign |
Het |
Rhag |
A |
T |
17: 41,142,222 (GRCm39) |
M222L |
possibly damaging |
Het |
Rims2 |
A |
T |
15: 39,300,602 (GRCm39) |
H111L |
possibly damaging |
Het |
Setx |
T |
C |
2: 29,061,292 (GRCm39) |
Y2234H |
probably damaging |
Het |
Slc2a8 |
T |
C |
2: 32,871,801 (GRCm39) |
I51V |
possibly damaging |
Het |
Slc34a1 |
T |
C |
13: 55,549,085 (GRCm39) |
|
probably null |
Het |
Slf1 |
T |
C |
13: 77,231,598 (GRCm39) |
T594A |
possibly damaging |
Het |
Sox6 |
A |
T |
7: 115,178,392 (GRCm39) |
|
probably null |
Het |
Spata13 |
C |
T |
14: 60,928,652 (GRCm39) |
S70L |
probably benign |
Het |
Stard13 |
A |
G |
5: 150,986,592 (GRCm39) |
I188T |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,535,803 (GRCm39) |
D4020G |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,868,611 (GRCm39) |
K255R |
possibly damaging |
Het |
Tns2 |
G |
T |
15: 102,015,538 (GRCm39) |
A124S |
probably benign |
Het |
Top2b |
T |
A |
14: 16,413,666 (GRCm38) |
W1045R |
probably damaging |
Het |
Trav12-2 |
T |
C |
14: 53,854,122 (GRCm39) |
V32A |
probably damaging |
Het |
Vps13c |
G |
T |
9: 67,870,455 (GRCm39) |
R3198L |
possibly damaging |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
Zfp52 |
T |
A |
17: 21,782,013 (GRCm39) |
S620R |
probably benign |
Het |
Zfp62 |
T |
A |
11: 49,107,044 (GRCm39) |
C378* |
probably null |
Het |
Zfp638 |
C |
A |
6: 83,906,969 (GRCm39) |
P378H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTAAGTCAGGAAGGGTGGGC -3'
(R):5'- TGCTACCAACAGCTGAGTTTAC -3'
Sequencing Primer
(F):5'- GAGGGATGCAGGAGAATTCC -3'
(R):5'- CAACAGCTGAGTTTACCTGGAGTC -3'
|
Posted On |
2016-11-09 |