Incidental Mutation 'R7643:Gbp2b'
| ID |
590338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp2b
|
| Ensembl Gene |
ENSMUSG00000040264 |
| Gene Name |
guanylate binding protein 2b |
| Synonyms |
Gbp1, Mpa1, Mag-1, Gbp-1, Mpa-1 |
| MMRRC Submission |
045700-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142594847-142619179 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 142603609 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 160
(Q160H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029936]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029936
AA Change: Q160H
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: Q160H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930435E12Rik |
A |
G |
16: 38,827,863 (GRCm38) |
Y295H |
probably benign |
Het |
| 4931406C07Rik |
A |
G |
9: 15,297,860 (GRCm38) |
F46S |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,338,356 (GRCm38) |
Y1670H |
probably damaging |
Het |
| Acrbp |
G |
A |
6: 125,053,832 (GRCm38) |
R272Q |
possibly damaging |
Het |
| Adcy6 |
T |
A |
15: 98,593,568 (GRCm38) |
Q1050L |
probably benign |
Het |
| Amn1 |
C |
T |
6: 149,185,031 (GRCm38) |
M44I |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,473,085 (GRCm38) |
V395A |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,477,072 (GRCm38) |
K310R |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,506,574 (GRCm38) |
D123G |
probably benign |
Het |
| Bst1 |
G |
A |
5: 43,840,449 (GRCm38) |
M263I |
probably benign |
Het |
| Ccdc7a |
C |
T |
8: 128,889,811 (GRCm38) |
G937E |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,537,553 (GRCm38) |
M1232V |
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,553,585 (GRCm38) |
Y186H |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,602,813 (GRCm38) |
H1203L |
probably benign |
Het |
| Emc7 |
A |
G |
2: 112,455,279 (GRCm38) |
E71G |
probably benign |
Het |
| Exoc3l4 |
G |
A |
12: 111,421,935 (GRCm38) |
|
probably benign |
Het |
| Fam83c |
A |
G |
2: 155,831,004 (GRCm38) |
F278L |
possibly damaging |
Het |
| Gabpb2 |
C |
A |
3: 95,200,225 (GRCm38) |
V180L |
probably benign |
Het |
| Gm19965 |
C |
G |
1: 116,822,229 (GRCm38) |
Q547E |
unknown |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 142,240,713 (GRCm38) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,902,807 (GRCm38) |
D1774E |
probably damaging |
Het |
| Gpr15 |
A |
C |
16: 58,717,816 (GRCm38) |
Y303* |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,711,996 (GRCm38) |
D461G |
probably damaging |
Het |
| Gria4 |
T |
C |
9: 4,793,950 (GRCm38) |
N36S |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,044,791 (GRCm38) |
I119V |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,812,433 (GRCm38) |
D101E |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,558,828 (GRCm38) |
N297K |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,953,501 (GRCm38) |
D971G |
probably benign |
Het |
| Klf5 |
A |
G |
14: 99,313,178 (GRCm38) |
E397G |
possibly damaging |
Het |
| Krtap29-1 |
C |
T |
11: 99,978,198 (GRCm38) |
G286S |
probably damaging |
Het |
| Lrp2bp |
A |
T |
8: 46,020,527 (GRCm38) |
|
probably null |
Het |
| March4 |
T |
G |
1: 72,447,220 (GRCm38) |
Q266H |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,905,965 (GRCm38) |
T1056A |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,706,632 (GRCm38) |
L1079P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,346,265 (GRCm38) |
L85I |
probably benign |
Het |
| Nlgn2 |
G |
T |
11: 69,827,885 (GRCm38) |
Q290K |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,323,754 (GRCm38) |
E323V |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 94,286,619 (GRCm38) |
|
probably null |
Het |
| Olfr298 |
C |
T |
7: 86,489,568 (GRCm38) |
|
probably null |
Het |
| Olfr558 |
C |
T |
7: 102,709,538 (GRCm38) |
T93I |
probably benign |
Het |
| Olfr977-ps1 |
T |
A |
9: 39,974,821 (GRCm38) |
M1L |
unknown |
Het |
| Otop3 |
T |
C |
11: 115,339,648 (GRCm38) |
L117P |
probably damaging |
Het |
| Pde6c |
C |
A |
19: 38,141,421 (GRCm38) |
Q260K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,247,557 (GRCm38) |
Q20* |
probably null |
Het |
| Qser1 |
A |
T |
2: 104,786,977 (GRCm38) |
Y1163* |
probably null |
Het |
| Rbm12 |
A |
T |
2: 156,098,217 (GRCm38) |
I45N |
unknown |
Het |
| Rictor |
T |
A |
15: 6,769,269 (GRCm38) |
Y332* |
probably null |
Het |
| Rpp14 |
C |
A |
14: 8,090,325 (GRCm38) |
S83* |
probably null |
Het |
| Sel1l3 |
C |
T |
5: 53,123,162 (GRCm38) |
|
probably null |
Het |
| Setd2 |
T |
C |
9: 110,567,840 (GRCm38) |
|
probably null |
Het |
| Spink5 |
A |
G |
18: 44,010,252 (GRCm38) |
T759A |
probably benign |
Het |
| Spon2 |
T |
A |
5: 33,217,456 (GRCm38) |
E2V |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,837,708 (GRCm38) |
S144P |
probably damaging |
Het |
| Tex15 |
A |
C |
8: 33,575,120 (GRCm38) |
Y1526S |
probably damaging |
Het |
| Tnfrsf21 |
T |
C |
17: 43,037,916 (GRCm38) |
S140P |
probably benign |
Het |
| Trav6-2 |
T |
A |
14: 52,667,442 (GRCm38) |
M11K |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,247,814 (GRCm38) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,734,827 (GRCm38) |
N28352S |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,573,106 (GRCm38) |
I292V |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,216,333 (GRCm38) |
S211T |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,808,293 (GRCm38) |
I313T |
possibly damaging |
Het |
| Zfp106 |
C |
T |
2: 120,512,734 (GRCm38) |
R1811K |
probably benign |
Het |
| Zfp599 |
G |
T |
9: 22,249,892 (GRCm38) |
Q326K |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,309,525 (GRCm38) |
M108K |
probably damaging |
Het |
|
| Other mutations in Gbp2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Gbp2b
|
APN |
3 |
142,598,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01892:Gbp2b
|
APN |
3 |
142,603,620 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01989:Gbp2b
|
APN |
3 |
142,611,440 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02019:Gbp2b
|
APN |
3 |
142,606,990 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02338:Gbp2b
|
APN |
3 |
142,604,226 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02657:Gbp2b
|
APN |
3 |
142,604,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03148:Gbp2b
|
APN |
3 |
142,606,881 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4304:Gbp2b
|
UTSW |
3 |
142,603,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4340:Gbp2b
|
UTSW |
3 |
142,603,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4342:Gbp2b
|
UTSW |
3 |
142,603,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4589:Gbp2b
|
UTSW |
3 |
142,603,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0329:Gbp2b
|
UTSW |
3 |
142,608,176 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0345:Gbp2b
|
UTSW |
3 |
142,608,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0358:Gbp2b
|
UTSW |
3 |
142,606,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0732:Gbp2b
|
UTSW |
3 |
142,606,978 (GRCm38) |
missense |
probably benign |
|
|
R1163:Gbp2b
|
UTSW |
3 |
142,599,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1550:Gbp2b
|
UTSW |
3 |
142,606,830 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1629:Gbp2b
|
UTSW |
3 |
142,610,974 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1886:Gbp2b
|
UTSW |
3 |
142,608,302 (GRCm38) |
missense |
probably benign |
|
|
R1887:Gbp2b
|
UTSW |
3 |
142,608,302 (GRCm38) |
missense |
probably benign |
|
|
R2188:Gbp2b
|
UTSW |
3 |
142,608,279 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2261:Gbp2b
|
UTSW |
3 |
142,606,735 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3977:Gbp2b
|
UTSW |
3 |
142,603,709 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4718:Gbp2b
|
UTSW |
3 |
142,598,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4788:Gbp2b
|
UTSW |
3 |
142,611,410 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4807:Gbp2b
|
UTSW |
3 |
142,598,245 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5042:Gbp2b
|
UTSW |
3 |
142,611,463 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5087:Gbp2b
|
UTSW |
3 |
142,598,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5114:Gbp2b
|
UTSW |
3 |
142,598,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5414:Gbp2b
|
UTSW |
3 |
142,599,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5567:Gbp2b
|
UTSW |
3 |
142,611,365 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5625:Gbp2b
|
UTSW |
3 |
142,599,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5685:Gbp2b
|
UTSW |
3 |
142,608,158 (GRCm38) |
missense |
probably benign |
|
|
R6030:Gbp2b
|
UTSW |
3 |
142,603,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6030:Gbp2b
|
UTSW |
3 |
142,603,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6408:Gbp2b
|
UTSW |
3 |
142,618,138 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6500:Gbp2b
|
UTSW |
3 |
142,611,491 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6581:Gbp2b
|
UTSW |
3 |
142,608,238 (GRCm38) |
nonsense |
probably null |
|
|
R6582:Gbp2b
|
UTSW |
3 |
142,611,040 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6847:Gbp2b
|
UTSW |
3 |
142,598,179 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6923:Gbp2b
|
UTSW |
3 |
142,600,559 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7120:Gbp2b
|
UTSW |
3 |
142,606,746 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7255:Gbp2b
|
UTSW |
3 |
142,608,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7454:Gbp2b
|
UTSW |
3 |
142,598,159 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R8039:Gbp2b
|
UTSW |
3 |
142,618,164 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8312:Gbp2b
|
UTSW |
3 |
142,599,054 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8312:Gbp2b
|
UTSW |
3 |
142,599,051 (GRCm38) |
missense |
probably benign |
|
|
R8391:Gbp2b
|
UTSW |
3 |
142,604,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8418:Gbp2b
|
UTSW |
3 |
142,603,705 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8721:Gbp2b
|
UTSW |
3 |
142,606,944 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8842:Gbp2b
|
UTSW |
3 |
142,606,815 (GRCm38) |
missense |
probably benign |
|
|
R8849:Gbp2b
|
UTSW |
3 |
142,608,152 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8874:Gbp2b
|
UTSW |
3 |
142,608,279 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8896:Gbp2b
|
UTSW |
3 |
142,603,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8992:Gbp2b
|
UTSW |
3 |
142,610,969 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9339:Gbp2b
|
UTSW |
3 |
142,611,417 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9752:Gbp2b
|
UTSW |
3 |
142,608,156 (GRCm38) |
missense |
probably benign |
0.16 |
|
Z1177:Gbp2b
|
UTSW |
3 |
142,604,316 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCCCAGGGAAAGTACATGATC -3'
(R):5'- TGATATCACAAACTTCCATTGAGCC -3'
Sequencing Primer
(F):5'- TCCCAGGGAAAGTACATGATCCATAG -3'
(R):5'- AAACTTCCATTGAGCCCATTTAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation