Incidental Mutation 'R4490:Gbp2'
| ID |
330670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp2
|
| Ensembl Gene |
ENSMUSG00000028270 |
| Gene Name |
guanylate binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
041746-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4490 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142326424-142343769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142329525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 24
(N24S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029936]
[ENSMUST00000165774]
[ENSMUST00000169572]
|
| AlphaFold |
Q9Z0E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029936
|
| SMART Domains |
Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
280 |
4.1e-122 |
PFAM |
|
Pfam:GBP_C
|
282 |
578 |
5.5e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165774
AA Change: N24S
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132435
Gene: ENSMUSG00000028270
AA Change: N24S
| 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
AA Change: N24S
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129039
Gene: ENSMUSG00000028270
AA Change: N24S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
115 |
3.1e-49 |
PFAM |
|
Pfam:MMR_HSR1
|
40 |
116 |
1.3e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183426
|
| Meta Mutation Damage Score |
0.3435 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,461,349 (GRCm39) |
V417A |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,906,121 (GRCm39) |
V881A |
possibly damaging |
Het |
| Arl5c |
G |
A |
11: 97,886,662 (GRCm39) |
R10* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,673,197 (GRCm39) |
C229R |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,784,674 (GRCm39) |
V319A |
probably damaging |
Het |
| Cage1 |
A |
G |
13: 38,207,393 (GRCm39) |
S257P |
possibly damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,842,876 (GRCm39) |
D179G |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,684 (GRCm39) |
I398T |
probably benign |
Het |
| Crmp1 |
A |
G |
5: 37,433,675 (GRCm39) |
D178G |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 48,177,429 (GRCm39) |
V370I |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,865,942 (GRCm39) |
T180A |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,044,964 (GRCm39) |
V2084A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,018,928 (GRCm39) |
S476T |
possibly damaging |
Het |
| Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
| Gm14325 |
T |
C |
2: 177,474,776 (GRCm39) |
H101R |
possibly damaging |
Het |
| Gpr55 |
C |
T |
1: 85,869,540 (GRCm39) |
V14M |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,631,480 (GRCm39) |
Y724F |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,301,341 (GRCm39) |
Q195L |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,566,638 (GRCm39) |
F68L |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,268,905 (GRCm39) |
|
probably null |
Het |
| Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,062,424 (GRCm39) |
V447A |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,324,011 (GRCm39) |
P831S |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,113,879 (GRCm39) |
|
probably null |
Het |
| Or4b1d |
A |
T |
2: 89,969,261 (GRCm39) |
V74D |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,443,893 (GRCm39) |
Y337C |
probably damaging |
Het |
| Prdm1 |
G |
T |
10: 44,322,903 (GRCm39) |
Y197* |
probably null |
Het |
| Prdm4 |
A |
T |
10: 85,736,763 (GRCm39) |
C626S |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,787,733 (GRCm39) |
L873P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,664,194 (GRCm39) |
T23A |
possibly damaging |
Het |
| Rxra |
G |
T |
2: 27,631,207 (GRCm39) |
R118L |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,202,476 (GRCm39) |
L750P |
probably damaging |
Het |
| Trpm1 |
C |
T |
7: 63,858,660 (GRCm39) |
Q228* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,560,937 (GRCm39) |
D265G |
probably damaging |
Het |
| Usp29 |
T |
C |
7: 6,964,949 (GRCm39) |
I264T |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,027,697 (GRCm39) |
L479P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,442,273 (GRCm39) |
S130P |
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 |
|
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 |
|
|
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'- ACAGGGCTCCAAAACTCTTAGAAG -3'
(R):5'- ACATCTGCTTTCAGGATGCTGG -3'
Sequencing Primer
(F):5'- GGGCTCCAAAACTCTTAGAAGTGTAC -3'
(R):5'- TGCTGGTGACATGAGTGAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation