Incidental Mutation 'R8874:Gbp2b'
ID |
676457 |
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 |
068744-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8874 (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 G
at 142314040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 440
(E440G)
|
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: E440G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000029936 Gene: ENSMUSG00000040264 AA Change: E440G
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 |
98% (53/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,875,671 (GRCm39) |
M615V |
possibly damaging |
Het |
Bud31 |
T |
C |
5: 145,079,379 (GRCm39) |
|
probably null |
Het |
Calhm4 |
A |
G |
10: 33,920,264 (GRCm39) |
M1T |
probably null |
Het |
Ccdc42 |
A |
G |
11: 68,485,396 (GRCm39) |
K105E |
probably damaging |
Het |
Cenpq |
A |
G |
17: 41,242,551 (GRCm39) |
S93P |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,014,159 (GRCm39) |
F1222L |
probably damaging |
Het |
Cpxm2 |
A |
T |
7: 131,708,010 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,365,157 (GRCm39) |
D1627G |
possibly damaging |
Het |
Diras2 |
T |
C |
13: 52,661,737 (GRCm39) |
E190G |
possibly damaging |
Het |
Dpyd |
G |
C |
3: 118,792,981 (GRCm39) |
A563P |
probably damaging |
Het |
Efcab8 |
T |
A |
2: 153,640,569 (GRCm39) |
N343K |
|
Het |
Ghrhr |
T |
C |
6: 55,355,891 (GRCm39) |
F30L |
probably benign |
Het |
Gm3404 |
T |
A |
5: 146,464,953 (GRCm39) |
V231E |
possibly damaging |
Het |
Gramd4 |
A |
G |
15: 85,985,093 (GRCm39) |
H143R |
probably damaging |
Het |
Greb1l |
A |
T |
18: 10,544,896 (GRCm39) |
E1408V |
probably benign |
Het |
Hdgfl1 |
T |
G |
13: 26,954,007 (GRCm39) |
Y22S |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,445,793 (GRCm39) |
V1590D |
probably damaging |
Het |
Hecw2 |
A |
T |
1: 53,943,608 (GRCm39) |
|
probably benign |
Het |
Igkv8-30 |
C |
A |
6: 70,094,150 (GRCm39) |
R87L |
probably damaging |
Het |
Il18rap |
T |
A |
1: 40,564,506 (GRCm39) |
C179S |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,487,684 (GRCm39) |
K589R |
probably benign |
Het |
Jph4 |
T |
C |
14: 55,351,534 (GRCm39) |
T161A |
possibly damaging |
Het |
Klhdc7a |
A |
T |
4: 139,694,896 (GRCm39) |
M17K |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,056,209 (GRCm39) |
N699S |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,582,643 (GRCm39) |
|
probably null |
Het |
Lca5 |
A |
G |
9: 83,277,503 (GRCm39) |
F614L |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,812,147 (GRCm39) |
V853A |
probably benign |
Het |
Map2 |
A |
T |
1: 66,455,523 (GRCm39) |
T1406S |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,771,617 (GRCm39) |
I552V |
possibly damaging |
Het |
Myo1h |
A |
T |
5: 114,472,163 (GRCm39) |
I414L |
|
Het |
Myom1 |
A |
G |
17: 71,413,199 (GRCm39) |
K1271E |
probably damaging |
Het |
Or14j5 |
A |
T |
17: 38,161,675 (GRCm39) |
K64M |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,459,623 (GRCm39) |
V48E |
possibly damaging |
Het |
Or7e177 |
T |
C |
9: 20,212,069 (GRCm39) |
F192S |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,859,785 (GRCm39) |
D1168E |
possibly damaging |
Het |
Prr5 |
T |
C |
15: 84,583,916 (GRCm39) |
M181T |
probably damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,744,168 (GRCm39) |
I151T |
probably damaging |
Het |
Ptpn7 |
T |
C |
1: 135,067,004 (GRCm39) |
V287A |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,042,747 (GRCm39) |
V2057A |
|
Het |
Rad17 |
G |
T |
13: 100,754,327 (GRCm39) |
A631E |
probably benign |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Slc22a2 |
A |
T |
17: 12,828,866 (GRCm39) |
D324V |
probably benign |
Het |
Strc |
C |
T |
2: 121,205,353 (GRCm39) |
|
probably null |
Het |
Taf4b |
T |
G |
18: 14,963,127 (GRCm39) |
D622E |
probably benign |
Het |
Tgfbrap1 |
A |
C |
1: 43,114,973 (GRCm39) |
N42K |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,628,943 (GRCm39) |
F375L |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,877,999 (GRCm39) |
I466T |
probably damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,956,617 (GRCm39) |
K2E |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,881,772 (GRCm39) |
T1274A |
|
Het |
Vwa3b |
C |
T |
1: 37,074,839 (GRCm39) |
A2V |
possibly damaging |
Het |
Ylpm1 |
T |
C |
12: 85,116,394 (GRCm39) |
V2092A |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,946,135 (GRCm39) |
S1055P |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,754,815 (GRCm39) |
T982A |
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 |
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 |
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'- TGAGTCCTCAGTTAGACATTCTCC -3'
(R):5'- ACTCCCAAGGAAGAAGCTGC -3'
Sequencing Primer
(F):5'- GACATTCTCCAGTAATCTGTTGTG -3'
(R):5'- TCTGTATAATGGCCGACTGC -3'
|
Posted On |
2021-07-15 |