Incidental Mutation 'R5087:Gbp2b'
ID |
387499 |
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 |
042676-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5087 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 142304015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 37
(P37S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029936]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029936
AA Change: P37S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029936 Gene: ENSMUSG00000040264 AA Change: P37S
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
18 |
280 |
4.1e-122 |
PFAM |
Pfam:GBP_C
|
282 |
578 |
5.5e-125 |
PFAM |
|
Meta Mutation Damage Score |
0.8628 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
99% (66/67) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
A |
G |
1: 9,631,851 (GRCm39) |
|
probably benign |
Het |
Anln |
T |
C |
9: 22,286,340 (GRCm39) |
T322A |
possibly damaging |
Het |
Best3 |
A |
T |
10: 116,844,907 (GRCm39) |
Y354F |
probably benign |
Het |
Cd44 |
C |
T |
2: 102,661,699 (GRCm39) |
V509I |
possibly damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,184,315 (GRCm39) |
N529S |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,450,378 (GRCm39) |
D614G |
possibly damaging |
Het |
Cpq |
T |
C |
15: 33,213,008 (GRCm39) |
I9T |
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,419,936 (GRCm39) |
H265R |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,168,621 (GRCm39) |
M458K |
probably damaging |
Het |
Disc1 |
A |
C |
8: 125,858,899 (GRCm39) |
I454L |
probably benign |
Het |
Dnaja4 |
A |
G |
9: 54,607,023 (GRCm39) |
E4G |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Eipr1 |
C |
A |
12: 28,878,855 (GRCm39) |
N136K |
probably benign |
Het |
Fut11 |
A |
G |
14: 20,746,229 (GRCm39) |
N357S |
probably damaging |
Het |
Ghr |
T |
G |
15: 3,349,622 (GRCm39) |
K519Q |
probably damaging |
Het |
Gipr |
C |
A |
7: 18,893,689 (GRCm39) |
C328F |
probably damaging |
Het |
Gm27013 |
A |
T |
6: 130,654,633 (GRCm39) |
N276K |
probably damaging |
Het |
Got2 |
C |
A |
8: 96,598,951 (GRCm39) |
K150N |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,744,033 (GRCm39) |
S189P |
possibly damaging |
Het |
H2-T5 |
C |
A |
17: 36,476,308 (GRCm39) |
G347* |
probably null |
Het |
Hells |
T |
C |
19: 38,932,189 (GRCm39) |
V153A |
probably benign |
Het |
Ighd |
G |
A |
12: 113,378,047 (GRCm39) |
|
probably benign |
Het |
Inhca |
C |
T |
9: 103,143,420 (GRCm39) |
V361M |
probably damaging |
Het |
Itga4 |
A |
C |
2: 79,145,973 (GRCm39) |
D725A |
possibly damaging |
Het |
Itgbl1 |
T |
A |
14: 124,204,151 (GRCm39) |
L414Q |
possibly damaging |
Het |
Kat2b-ps |
A |
G |
5: 93,539,585 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc1 |
A |
T |
9: 77,364,740 (GRCm39) |
S192T |
probably benign |
Het |
Mc2r |
A |
T |
18: 68,541,274 (GRCm39) |
N6K |
probably benign |
Het |
Moxd2 |
A |
C |
6: 40,856,270 (GRCm39) |
L534W |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,146,235 (GRCm39) |
D1431V |
probably damaging |
Het |
Naa15 |
T |
A |
3: 51,364,706 (GRCm39) |
|
probably null |
Het |
Naa16 |
G |
A |
14: 79,614,855 (GRCm39) |
T215I |
possibly damaging |
Het |
Ntng1 |
A |
T |
3: 110,042,645 (GRCm39) |
Y60* |
probably null |
Het |
Or1e29 |
T |
C |
11: 73,668,084 (GRCm39) |
Y23C |
possibly damaging |
Het |
Or2g25 |
A |
T |
17: 37,970,612 (GRCm39) |
V204E |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,867,296 (GRCm39) |
|
probably benign |
Het |
Pcnx1 |
C |
A |
12: 82,041,713 (GRCm39) |
P2115Q |
probably damaging |
Het |
Pfkfb3 |
G |
A |
2: 11,488,825 (GRCm39) |
T313I |
probably damaging |
Het |
Pld1 |
A |
G |
3: 28,178,731 (GRCm39) |
N875S |
probably damaging |
Het |
Ptpn20 |
A |
T |
14: 33,336,398 (GRCm39) |
D79V |
possibly damaging |
Het |
Rabgap1l |
C |
A |
1: 160,549,809 (GRCm39) |
V266L |
probably damaging |
Het |
Reep6 |
A |
G |
10: 80,171,009 (GRCm39) |
D295G |
probably damaging |
Het |
Sass6 |
T |
C |
3: 116,403,947 (GRCm39) |
L195P |
probably damaging |
Het |
Slc25a27 |
A |
G |
17: 43,977,821 (GRCm39) |
S25P |
probably damaging |
Het |
Smok2b |
T |
A |
17: 13,454,011 (GRCm39) |
M57K |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,465,405 (GRCm39) |
V71A |
possibly damaging |
Het |
Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,527,500 (GRCm39) |
Y1252* |
probably null |
Het |
Syde2 |
T |
A |
3: 145,712,881 (GRCm39) |
D1006E |
probably damaging |
Het |
Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
Tmc5 |
G |
A |
7: 118,244,609 (GRCm39) |
A496T |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,566,704 (GRCm39) |
V28063A |
probably damaging |
Het |
Usp25 |
A |
C |
16: 76,874,007 (GRCm39) |
I528L |
probably benign |
Het |
Vmn1r58 |
C |
T |
7: 5,413,666 (GRCm39) |
S188N |
probably benign |
Het |
Wfikkn2 |
A |
T |
11: 94,129,173 (GRCm39) |
C323S |
probably damaging |
Het |
Zfy1 |
A |
C |
Y: 732,964 (GRCm39) |
S290A |
unknown |
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 |
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'- GTCCAGGTCATTGAACCGAG -3'
(R):5'- TCAGAAATGCAAGTCCACTGATG -3'
Sequencing Primer
(F):5'- AGGTCATTGAACCGAGTTCTTC -3'
(R):5'- TGATGGACAAAAAGCACCCCATATC -3'
|
Posted On |
2016-06-06 |