Incidental Mutation 'R6582:Gbp2b'
| ID |
524138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp2b
|
| Ensembl Gene |
ENSMUSG00000040264 |
| Gene Name |
guanylate binding protein 2b |
| Synonyms |
Mag-1, Mpa-1, Mpa1, Gbp-1, Gbp1 |
| MMRRC Submission |
044706-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6582 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142316801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 484
(E484G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029936]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029936
AA Change: E484G
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: E484G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
280 |
4.1e-122 |
PFAM |
|
Pfam:GBP_C
|
282 |
578 |
5.5e-125 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
| Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
| Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
| Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
| Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
| Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
| Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
| Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
| Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
| Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
| Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
| Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
| Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
| Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
| Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
| Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
| Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
| Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
| Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
|
| Other mutations in Gbp2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Gbp2b
|
APN |
3 |
142,304,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01892:Gbp2b
|
APN |
3 |
142,309,381 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01989:Gbp2b
|
APN |
3 |
142,317,201 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02019:Gbp2b
|
APN |
3 |
142,312,751 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02338:Gbp2b
|
APN |
3 |
142,309,987 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02657:Gbp2b
|
APN |
3 |
142,309,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03148:Gbp2b
|
APN |
3 |
142,312,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Gbp2b
|
UTSW |
3 |
142,309,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4340:Gbp2b
|
UTSW |
3 |
142,309,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4342:Gbp2b
|
UTSW |
3 |
142,309,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4589:Gbp2b
|
UTSW |
3 |
142,309,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0329:Gbp2b
|
UTSW |
3 |
142,313,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0345:Gbp2b
|
UTSW |
3 |
142,313,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Gbp2b
|
UTSW |
3 |
142,312,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Gbp2b
|
UTSW |
3 |
142,312,739 (GRCm39) |
missense |
probably benign |
|
|
R1163:Gbp2b
|
UTSW |
3 |
142,304,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Gbp2b
|
UTSW |
3 |
142,312,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1629:Gbp2b
|
UTSW |
3 |
142,316,735 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1886:Gbp2b
|
UTSW |
3 |
142,314,063 (GRCm39) |
missense |
probably benign |
|
|
R1887:Gbp2b
|
UTSW |
3 |
142,314,063 (GRCm39) |
missense |
probably benign |
|
|
R2188:Gbp2b
|
UTSW |
3 |
142,314,040 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2261:Gbp2b
|
UTSW |
3 |
142,312,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3977:Gbp2b
|
UTSW |
3 |
142,309,470 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4718:Gbp2b
|
UTSW |
3 |
142,304,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Gbp2b
|
UTSW |
3 |
142,317,171 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4807:Gbp2b
|
UTSW |
3 |
142,304,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5042:Gbp2b
|
UTSW |
3 |
142,317,224 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5087:Gbp2b
|
UTSW |
3 |
142,304,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Gbp2b
|
UTSW |
3 |
142,303,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Gbp2b
|
UTSW |
3 |
142,304,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Gbp2b
|
UTSW |
3 |
142,317,126 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5625:Gbp2b
|
UTSW |
3 |
142,304,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Gbp2b
|
UTSW |
3 |
142,313,919 (GRCm39) |
missense |
probably benign |
|
|
R6030:Gbp2b
|
UTSW |
3 |
142,309,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6030:Gbp2b
|
UTSW |
3 |
142,309,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6408:Gbp2b
|
UTSW |
3 |
142,323,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6500:Gbp2b
|
UTSW |
3 |
142,317,252 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6581:Gbp2b
|
UTSW |
3 |
142,313,999 (GRCm39) |
nonsense |
probably null |
|
|
R6847:Gbp2b
|
UTSW |
3 |
142,303,940 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6923:Gbp2b
|
UTSW |
3 |
142,306,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7120:Gbp2b
|
UTSW |
3 |
142,312,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7255:Gbp2b
|
UTSW |
3 |
142,313,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Gbp2b
|
UTSW |
3 |
142,303,920 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7643:Gbp2b
|
UTSW |
3 |
142,309,370 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8039:Gbp2b
|
UTSW |
3 |
142,323,925 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8312:Gbp2b
|
UTSW |
3 |
142,304,815 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8312:Gbp2b
|
UTSW |
3 |
142,304,812 (GRCm39) |
missense |
probably benign |
|
|
R8391:Gbp2b
|
UTSW |
3 |
142,309,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Gbp2b
|
UTSW |
3 |
142,309,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8721:Gbp2b
|
UTSW |
3 |
142,312,705 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8842:Gbp2b
|
UTSW |
3 |
142,312,576 (GRCm39) |
missense |
probably benign |
|
|
R8849:Gbp2b
|
UTSW |
3 |
142,313,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8874:Gbp2b
|
UTSW |
3 |
142,314,040 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8896:Gbp2b
|
UTSW |
3 |
142,309,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Gbp2b
|
UTSW |
3 |
142,316,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9339:Gbp2b
|
UTSW |
3 |
142,317,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9752:Gbp2b
|
UTSW |
3 |
142,313,917 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1177:Gbp2b
|
UTSW |
3 |
142,310,077 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGATTGGCTCTGGAAGGG -3'
(R):5'- GCACAATGAATGCCATGTCTAC -3'
Sequencing Primer
(F):5'- GGGACCTCAAGTTGATTTTAAAACC -3'
(R):5'- TGTCTACTAGTTTAAAAACAGCCACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation