Incidental Mutation 'R5414:Gbp2b'
| ID |
427622 |
| 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 |
042983-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142304852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 96
(L96P)
|
| 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: L96P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: L96P
| 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 |
0.9341 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,205,448 (GRCm39) |
S278P |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,750,736 (GRCm39) |
T1836A |
probably benign |
Het |
| Akr1c18 |
T |
A |
13: 4,186,734 (GRCm39) |
D238V |
probably damaging |
Het |
| Akt3 |
A |
G |
1: 176,877,817 (GRCm39) |
V317A |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,819,102 (GRCm39) |
P64S |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,752,757 (GRCm39) |
N609S |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,961,173 (GRCm39) |
|
probably null |
Het |
| C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
| Cd34 |
A |
G |
1: 194,630,219 (GRCm39) |
E51G |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,717,241 (GRCm39) |
E2161G |
possibly damaging |
Het |
| Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
| Cnih1 |
T |
C |
14: 47,016,440 (GRCm39) |
T105A |
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,986,607 (GRCm39) |
I279T |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,455,763 (GRCm39) |
T721A |
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,226,477 (GRCm39) |
A766S |
probably damaging |
Het |
| Focad |
C |
T |
4: 88,328,939 (GRCm39) |
|
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
| Gm10192 |
T |
C |
4: 97,071,346 (GRCm39) |
S20G |
probably null |
Het |
| Gm10288 |
T |
C |
3: 146,544,717 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4181 |
C |
T |
14: 51,873,047 (GRCm39) |
|
probably null |
Het |
| Gm6327 |
T |
A |
16: 12,578,222 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
A |
G |
5: 107,049,942 (GRCm39) |
I409T |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,324 (GRCm39) |
I378F |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,920,612 (GRCm39) |
T14A |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,806,335 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,543,697 (GRCm39) |
L226H |
probably damaging |
Het |
| Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nploc4 |
A |
T |
11: 120,304,469 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or4b12 |
T |
C |
2: 90,096,046 (GRCm39) |
T243A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,485,499 (GRCm39) |
I397V |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Pgm5 |
A |
G |
19: 24,686,689 (GRCm39) |
I506T |
probably damaging |
Het |
| Pgs1 |
T |
G |
11: 117,905,502 (GRCm39) |
I499S |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,557,330 (GRCm39) |
S253P |
probably damaging |
Het |
| Prag1 |
C |
G |
8: 36,606,776 (GRCm39) |
P839R |
probably benign |
Het |
| Rin3 |
C |
T |
12: 102,356,116 (GRCm39) |
Q806* |
probably null |
Het |
| Ros1 |
T |
C |
10: 52,031,189 (GRCm39) |
D484G |
probably damaging |
Het |
| Scamp5 |
A |
G |
9: 57,354,507 (GRCm39) |
V49A |
probably benign |
Het |
| Sis |
C |
A |
3: 72,859,826 (GRCm39) |
V310L |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,206,322 (GRCm39) |
T19A |
possibly damaging |
Het |
| Tcstv2b |
A |
C |
13: 120,373,872 (GRCm39) |
D139E |
probably damaging |
Het |
| Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,651,783 (GRCm39) |
I102V |
probably benign |
Het |
| Trim30a |
A |
C |
7: 104,060,348 (GRCm39) |
V476G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,978 (GRCm39) |
R718* |
probably null |
Het |
| Washc4 |
A |
G |
10: 83,391,967 (GRCm39) |
T218A |
possibly damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,269,643 (GRCm39) |
Y401C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,454 (GRCm39) |
T452A |
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 |
|
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'- TTGGATGTTCTGCACTCCATG -3'
(R):5'- GCTGACTCTCTGTTAATCAGTTG -3'
Sequencing Primer
(F):5'- GCTGGTCTTCTGTAAATGGTAAAC -3'
(R):5'- CAGTTGACTTTAGTATCAACTCTTGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation