Incidental Mutation 'R1006:Gbp2'
| ID |
95731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp2
|
| Ensembl Gene |
ENSMUSG00000028270 |
| Gene Name |
guanylate binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
039116-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1006 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142326424-142343769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142343183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 567
(S567C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165774]
|
| AlphaFold |
Q9Z0E6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165774
AA Change: S567C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132435
Gene: ENSMUSG00000028270
AA Change: S567C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
280 |
7.5e-124 |
PFAM |
|
Pfam:GBP_C
|
282 |
578 |
1.3e-120 |
PFAM |
|
| Meta Mutation Damage Score |
0.5799 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.8%
- 10x: 93.4%
- 20x: 82.9%
|
| Validation Efficiency |
100% (43/43) |
| 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 |
|---|
| Abhd8 |
A |
T |
8: 71,911,085 (GRCm39) |
I282N |
probably benign |
Het |
| Akr1c18 |
T |
C |
13: 4,186,654 (GRCm39) |
I265V |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,210,706 (GRCm39) |
I1788V |
probably benign |
Het |
| Cacng7 |
T |
A |
7: 3,415,445 (GRCm39) |
I270N |
possibly damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,170,328 (GRCm39) |
I138V |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,311,342 (GRCm39) |
K983E |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,383,331 (GRCm39) |
S1770P |
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,201,973 (GRCm39) |
|
probably benign |
Het |
| Ctsc |
G |
A |
7: 87,959,037 (GRCm39) |
R439H |
probably damaging |
Het |
| Dcun1d1 |
A |
G |
3: 35,951,930 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,514 (GRCm39) |
I181V |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,058,510 (GRCm39) |
S370P |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,546,527 (GRCm39) |
V1018A |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,758,993 (GRCm39) |
A952V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,756,326 (GRCm39) |
E340K |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,084,826 (GRCm39) |
I141N |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,892 (GRCm39) |
V654A |
probably benign |
Het |
| Or5b24 |
T |
A |
19: 12,912,638 (GRCm39) |
C179S |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,826 (GRCm39) |
S890G |
probably benign |
Het |
| Psmd14 |
T |
A |
2: 61,627,726 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
G |
5: 103,734,655 (GRCm39) |
D2129G |
probably benign |
Het |
| Pum1 |
C |
T |
4: 130,499,199 (GRCm39) |
T760M |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,975,041 (GRCm39) |
I317V |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,337 (GRCm39) |
H767Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,184,114 (GRCm39) |
G114D |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,681,577 (GRCm39) |
D2684E |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,182,362 (GRCm39) |
T1201A |
possibly damaging |
Het |
| Vax2 |
T |
C |
6: 83,714,759 (GRCm39) |
S225P |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,833,196 (GRCm39) |
|
probably null |
Het |
| Washc5 |
T |
A |
15: 59,241,035 (GRCm39) |
Q100L |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,241,036 (GRCm39) |
Q100K |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,567,989 (GRCm39) |
D1094G |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,663,404 (GRCm39) |
Y1051C |
unknown |
Het |
| Zswim2 |
G |
A |
2: 83,745,737 (GRCm39) |
S567L |
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 |
|
|
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'- GAACTTGACCTGAGGGTTGTAGGC -3'
(R):5'- TGCATTCTGCACACAGAGGGAC -3'
Sequencing Primer
(F):5'- CAGGCTACATTTCTAAAGCTGG -3'
(R):5'- AGGGACTTCCTCTGACAGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation