Incidental Mutation 'R1005:Gbp2'
| ID |
95599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp2
|
| Ensembl Gene |
ENSMUSG00000028270 |
| Gene Name |
guanylate binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
039115-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1005 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142326424-142343769 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 142336262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165774]
[ENSMUST00000169572]
|
| AlphaFold |
Q9Z0E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165774
|
| SMART Domains |
Protein: ENSMUSP00000132435
Gene: ENSMUSG00000028270
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,155,530 (GRCm39) |
D163G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,368,872 (GRCm39) |
V117M |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,892,044 (GRCm39) |
M304K |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,104,511 (GRCm39) |
T563A |
probably benign |
Het |
| AW551984 |
G |
A |
9: 39,505,029 (GRCm39) |
Q488* |
probably null |
Het |
| Cbx2 |
A |
G |
11: 118,919,400 (GRCm39) |
R322G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,338,707 (GRCm39) |
T467S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,796,020 (GRCm39) |
I1252V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,789,495 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,331,007 (GRCm39) |
M185V |
probably benign |
Het |
| Flt1 |
G |
T |
5: 147,618,695 (GRCm39) |
N213K |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,346 (GRCm39) |
N265S |
probably benign |
Het |
| Gm6871 |
A |
T |
7: 41,195,682 (GRCm39) |
C352S |
probably damaging |
Het |
| Gm9742 |
T |
C |
13: 8,085,251 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,840,921 (GRCm39) |
I18T |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,665,551 (GRCm39) |
Y523C |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,603,758 (GRCm39) |
C198* |
probably null |
Het |
| Mc3r |
A |
G |
2: 172,091,483 (GRCm39) |
H235R |
probably benign |
Het |
| Nr0b2 |
G |
T |
4: 133,280,785 (GRCm39) |
R17L |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,962 (GRCm39) |
F27L |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,826,429 (GRCm39) |
P2L |
possibly damaging |
Het |
| Prrt3 |
G |
A |
6: 113,471,739 (GRCm39) |
A811V |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,855,726 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,726 (GRCm39) |
L115P |
probably damaging |
Het |
| Robo4 |
A |
G |
9: 37,319,547 (GRCm39) |
E599G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,004,501 (GRCm39) |
|
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,904,116 (GRCm39) |
L7Q |
probably damaging |
Het |
| Slfn5 |
T |
A |
11: 82,850,984 (GRCm39) |
L427H |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,085,711 (GRCm39) |
H890Y |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,517,837 (GRCm39) |
|
probably benign |
Het |
| Sptb |
C |
T |
12: 76,648,633 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,622 (GRCm39) |
D262G |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,162,789 (GRCm39) |
M16R |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,742,537 (GRCm39) |
E1385G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,903,403 (GRCm39) |
S47P |
probably benign |
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 |
|
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 |
|
|
R2398:Gbp2
|
UTSW |
3 |
142,339,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TACCTGGAACATTCCCTGACCCTG -3'
(R):5'- GCCCATTGACTATGATGCCACCAC -3'
Sequencing Primer
(F):5'- GCTTAGCAGAATCACTTGGACTC -3'
(R):5'- CTCAAGATGTATGAGGTGAATTCTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation