Incidental Mutation 'P4717OSA:Gbp2'
| ID |
43990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp2
|
| Ensembl Gene |
ENSMUSG00000028270 |
| Gene Name |
guanylate binding protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P4717OSA (G1)
of strain
634
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
142326424-142343769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142336357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 236
(F236L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165774]
[ENSMUST00000169572]
|
| AlphaFold |
Q9Z0E6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165774
AA Change: F236L
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132435
Gene: ENSMUSG00000028270
AA Change: F236L
| 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 |
0.4092 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
100% (27/27) |
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acsm5 |
A |
T |
7: 119,131,195 (GRCm39) |
E204D |
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Bbof1 |
G |
A |
12: 84,473,734 (GRCm39) |
A355T |
probably damaging |
Het |
| Capn10 |
G |
T |
1: 92,867,116 (GRCm39) |
Q115H |
probably damaging |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,677,317 (GRCm39) |
I527T |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,795,850 (GRCm39) |
L452P |
probably damaging |
Het |
| Mcoln3 |
T |
G |
3: 145,830,504 (GRCm39) |
V78G |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,797,483 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,237,677 (GRCm39) |
M193L |
probably benign |
Het |
| Olig1 |
A |
T |
16: 91,066,877 (GRCm39) |
Y38F |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,386,895 (GRCm39) |
V1256A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,643 (GRCm39) |
I1570F |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,241,267 (GRCm39) |
Y154H |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,456 (GRCm39) |
D468G |
probably damaging |
Het |
| Relt |
G |
A |
7: 100,496,788 (GRCm39) |
R360C |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Trhr |
C |
A |
15: 44,060,831 (GRCm39) |
T117K |
probably damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
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 |
|
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 |
|
|
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'- TGCCACCACACAGAGTCTTG -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation