Incidental Mutation 'R2398:Gbp2'
| ID |
248587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp2
|
| Ensembl Gene |
ENSMUSG00000028270 |
| Gene Name |
guanylate binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
040365-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142326424-142343769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142339123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 392
(A392T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165774]
[ENSMUST00000169572]
|
| AlphaFold |
Q9Z0E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165774
AA Change: A392T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132435
Gene: ENSMUSG00000028270
AA Change: A392T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
280 |
7.5e-124 |
PFAM |
|
Pfam:GBP_C
|
282 |
578 |
1.3e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169572
|
| SMART Domains |
Protein: ENSMUSP00000129039
Gene: ENSMUSG00000028270
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
115 |
3.1e-49 |
PFAM |
|
Pfam:MMR_HSR1
|
40 |
116 |
1.3e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to increased susceptibility to chronic Toxoplasma gondii infection, characterized by an increased parasite burden in the brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,872 (GRCm39) |
D160G |
possibly damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,126,943 (GRCm39) |
F269S |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,555,006 (GRCm39) |
Q440* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,256,665 (GRCm39) |
I137T |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,770,917 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,806,029 (GRCm39) |
N3357D |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,409,500 (GRCm39) |
T209A |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,695 (GRCm39) |
T123I |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,228 (GRCm39) |
I90F |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,928 (GRCm39) |
N42K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,658,755 (GRCm39) |
M629V |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,863 (GRCm39) |
D58G |
possibly damaging |
Het |
| Krtap4-8 |
T |
C |
11: 99,671,103 (GRCm39) |
|
probably benign |
Het |
| Mocs1 |
T |
C |
17: 49,759,862 (GRCm39) |
I381T |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,482,946 (GRCm39) |
T1408A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,076 (GRCm39) |
F285S |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,183 (GRCm39) |
D191V |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,459,166 (GRCm39) |
T445I |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,005,710 (GRCm39) |
K411E |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,129 (GRCm39) |
I443V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,478,222 (GRCm39) |
S536P |
possibly damaging |
Het |
| Rnf10 |
C |
T |
5: 115,385,332 (GRCm39) |
R554H |
probably benign |
Het |
| Smarcc2 |
C |
T |
10: 128,305,551 (GRCm39) |
T325I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,667,136 (GRCm39) |
C1752F |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,733,431 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,060,613 (GRCm39) |
|
probably null |
Het |
| Tex52 |
T |
C |
6: 128,356,540 (GRCm39) |
S78P |
probably damaging |
Het |
| Tmem63c |
T |
G |
12: 87,103,307 (GRCm39) |
V27G |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,549,250 (GRCm39) |
N148S |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,921 (GRCm39) |
I695V |
probably damaging |
Het |
| Wipf2 |
T |
A |
11: 98,789,543 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,140,605 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,089,013 (GRCm39) |
N947K |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,329,573 (GRCm39) |
|
probably null |
Het |
| Zic2 |
G |
T |
14: 122,716,329 (GRCm39) |
E422* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,816,929 (GRCm39) |
D4E |
probably damaging |
Het |
|
| Other mutations in Gbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02026:Gbp2
|
APN |
3 |
142,339,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02055:Gbp2
|
APN |
3 |
142,337,991 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03024:Gbp2
|
APN |
3 |
142,337,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4717OSA:Gbp2
|
UTSW |
3 |
142,336,357 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
PIT4445001:Gbp2
|
UTSW |
3 |
142,343,227 (GRCm39) |
missense |
probably benign |
|
|
R0267:Gbp2
|
UTSW |
3 |
142,335,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0507:Gbp2
|
UTSW |
3 |
142,335,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Gbp2
|
UTSW |
3 |
142,336,519 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1005:Gbp2
|
UTSW |
3 |
142,336,262 (GRCm39) |
splice site |
probably benign |
|
|
R1006:Gbp2
|
UTSW |
3 |
142,343,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Gbp2
|
UTSW |
3 |
142,336,284 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1893:Gbp2
|
UTSW |
3 |
142,335,933 (GRCm39) |
splice site |
probably benign |
|
|
R3978:Gbp2
|
UTSW |
3 |
142,335,747 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4095:Gbp2
|
UTSW |
3 |
142,343,210 (GRCm39) |
missense |
probably benign |
|
|
R4490:Gbp2
|
UTSW |
3 |
142,329,525 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5799:Gbp2
|
UTSW |
3 |
142,337,843 (GRCm39) |
missense |
probably benign |
|
|
R5834:Gbp2
|
UTSW |
3 |
142,339,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6159:Gbp2
|
UTSW |
3 |
142,338,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6237:Gbp2
|
UTSW |
3 |
142,337,793 (GRCm39) |
missense |
probably benign |
|
|
R6494:Gbp2
|
UTSW |
3 |
142,337,769 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6982:Gbp2
|
UTSW |
3 |
142,335,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7190:Gbp2
|
UTSW |
3 |
142,339,208 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8292:Gbp2
|
UTSW |
3 |
142,329,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Gbp2
|
UTSW |
3 |
142,338,036 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9768:Gbp2
|
UTSW |
3 |
142,341,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Gbp2
|
UTSW |
3 |
142,335,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAATAAAGCCCTTCAGGAAC -3'
(R):5'- ACTTGATTTACCTGGAGCCC -3'
Sequencing Primer
(F):5'- CCCTTCAGGAACCAAATTTGAAGTG -3'
(R):5'- TACCTGGAGCCCCTTCCCAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation