Incidental Mutation 'R1629:Gbp2b'
ID |
172663 |
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 |
039666-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1629 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142316735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 462
(Y462C)
|
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: Y462C
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029936 Gene: ENSMUSG00000040264 AA Change: Y462C
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: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
C |
18: 59,087,691 (GRCm39) |
I574L |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,864,020 (GRCm39) |
E191G |
probably damaging |
Het |
Cbx2 |
A |
G |
11: 118,919,806 (GRCm39) |
D457G |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,395,164 (GRCm39) |
K352E |
probably benign |
Het |
Cdk14 |
A |
T |
5: 5,153,807 (GRCm39) |
H183Q |
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,929,778 (GRCm39) |
T80A |
probably benign |
Het |
Cftr |
C |
T |
6: 18,226,105 (GRCm39) |
T351I |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,248,100 (GRCm39) |
|
probably benign |
Het |
Cp |
T |
A |
3: 20,020,614 (GRCm39) |
|
probably null |
Het |
Cpne8 |
A |
T |
15: 90,456,175 (GRCm39) |
V196E |
probably benign |
Het |
Dmxl1 |
T |
G |
18: 49,992,353 (GRCm39) |
|
probably null |
Het |
Dnm2 |
T |
A |
9: 21,415,754 (GRCm39) |
L642Q |
probably damaging |
Het |
Dock2 |
G |
T |
11: 34,212,480 (GRCm39) |
|
probably null |
Het |
Dock9 |
A |
G |
14: 121,780,986 (GRCm39) |
F2091L |
possibly damaging |
Het |
Eaf2 |
A |
G |
16: 36,645,063 (GRCm39) |
V53A |
probably damaging |
Het |
Fbl |
G |
T |
7: 27,874,212 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,159,610 (GRCm39) |
D2373G |
probably damaging |
Het |
Il1rl2 |
T |
A |
1: 40,396,020 (GRCm39) |
F348I |
probably benign |
Het |
Khdc1a |
T |
A |
1: 21,421,121 (GRCm39) |
I102N |
possibly damaging |
Het |
Klhl11 |
T |
C |
11: 100,355,012 (GRCm39) |
T270A |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,112,423 (GRCm39) |
S2288P |
probably benign |
Het |
Lrfn4 |
T |
C |
19: 4,663,523 (GRCm39) |
E337G |
possibly damaging |
Het |
Macf1 |
C |
A |
4: 123,402,208 (GRCm39) |
E549* |
probably null |
Het |
Mmp3 |
G |
T |
9: 7,447,641 (GRCm39) |
V209F |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myh9 |
G |
A |
15: 77,648,601 (GRCm39) |
R1725W |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,910,312 (GRCm39) |
D1294E |
possibly damaging |
Het |
Nrcam |
G |
A |
12: 44,610,769 (GRCm39) |
A496T |
probably benign |
Het |
Nufip2 |
A |
G |
11: 77,583,834 (GRCm39) |
T583A |
probably benign |
Het |
Or5m3b |
A |
G |
2: 85,871,766 (GRCm39) |
T36A |
probably damaging |
Het |
Ppig |
C |
A |
2: 69,566,217 (GRCm39) |
T128K |
probably damaging |
Het |
Ppp2r2a |
A |
T |
14: 67,257,208 (GRCm39) |
C341S |
possibly damaging |
Het |
Ptpre |
A |
T |
7: 135,271,528 (GRCm39) |
D374V |
probably damaging |
Het |
Ranbp3l |
A |
C |
15: 9,065,068 (GRCm39) |
Q485P |
probably damaging |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Slc1a7 |
A |
G |
4: 107,865,340 (GRCm39) |
Y276C |
probably damaging |
Het |
Smarcad1 |
A |
G |
6: 65,044,091 (GRCm39) |
D221G |
probably benign |
Het |
Smn1 |
C |
A |
13: 100,264,404 (GRCm39) |
T45N |
probably damaging |
Het |
Son |
T |
C |
16: 91,454,510 (GRCm39) |
S1086P |
probably damaging |
Het |
Ssmem1 |
T |
A |
6: 30,512,491 (GRCm39) |
Y45N |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,624,121 (GRCm39) |
H1943R |
possibly damaging |
Het |
Tmem184c |
A |
C |
8: 78,329,551 (GRCm39) |
F170V |
possibly damaging |
Het |
Tmem184c |
A |
T |
8: 78,332,791 (GRCm39) |
|
probably null |
Het |
Vmn1r59 |
C |
T |
7: 5,457,466 (GRCm39) |
C98Y |
probably damaging |
Het |
Vmn2r23 |
T |
A |
6: 123,690,386 (GRCm39) |
S421T |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly 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 |
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 |
|
R6582:Gbp2b
|
UTSW |
3 |
142,316,801 (GRCm39) |
missense |
possibly damaging |
0.53 |
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'- AATGATTGGCTCTGGAAGGGGACC -3'
(R):5'- CAGCCACCATGAAGCTAAGAGTGAC -3'
Sequencing Primer
(F):5'- CTCTGGAAGGGGACCTCAAG -3'
(R):5'- CACCATGAAGCTAAGAGTGACATTTG -3'
|
Posted On |
2014-04-24 |