Incidental Mutation 'R7120:Gbp2b'
| ID |
551915 |
| 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 |
045209-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142312507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 297
(T297A)
|
| 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: T297A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: T297A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
A |
T |
3: 36,536,016 (GRCm39) |
Q94L |
unknown |
Het |
| 4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
| Actr3 |
A |
C |
1: 125,331,169 (GRCm39) |
Y273* |
probably null |
Het |
| Aoc1 |
T |
A |
6: 48,883,531 (GRCm39) |
I469N |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,081,047 (GRCm39) |
L1270Q |
probably damaging |
Het |
| Atp2c1 |
G |
A |
9: 105,297,385 (GRCm39) |
Q780* |
probably null |
Het |
| Bbs10 |
T |
C |
10: 111,135,310 (GRCm39) |
V141A |
possibly damaging |
Het |
| Bivm |
A |
T |
1: 44,165,606 (GRCm39) |
T19S |
probably benign |
Het |
| Cacna1h |
T |
G |
17: 25,610,481 (GRCm39) |
H675P |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,439,919 (GRCm38) |
L1204F |
probably damaging |
Het |
| Cald1 |
T |
C |
6: 34,663,011 (GRCm39) |
|
probably null |
Het |
| Calr |
A |
G |
8: 85,569,457 (GRCm39) |
M357T |
probably damaging |
Het |
| Ccni |
A |
T |
5: 93,331,190 (GRCm39) |
Y260* |
probably null |
Het |
| Csrnp3 |
C |
A |
2: 65,853,354 (GRCm39) |
T594K |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,253,659 (GRCm39) |
M152K |
unknown |
Het |
| Depdc1b |
T |
C |
13: 108,498,781 (GRCm39) |
W155R |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,347,591 (GRCm39) |
K315R |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,383,254 (GRCm39) |
R323S |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,040,533 (GRCm39) |
K891* |
probably null |
Het |
| Fras1 |
G |
T |
5: 96,900,819 (GRCm39) |
G3013* |
probably null |
Het |
| Gbp7 |
T |
C |
3: 142,249,734 (GRCm39) |
S402P |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,694,032 (GRCm39) |
Y329H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,064,375 (GRCm39) |
H655R |
probably benign |
Het |
| Gm4787 |
C |
A |
12: 81,425,260 (GRCm39) |
M299I |
probably benign |
Het |
| Grb7 |
C |
A |
11: 98,345,817 (GRCm39) |
R532S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,576,292 (GRCm39) |
I2066N |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,341,486 (GRCm39) |
T518A |
probably benign |
Het |
| Hps3 |
G |
A |
3: 20,065,705 (GRCm39) |
R712W |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,118,388 (GRCm39) |
V406A |
probably benign |
Het |
| Igkv2-112 |
T |
C |
6: 68,197,510 (GRCm39) |
F61L |
probably benign |
Het |
| Iqcf5 |
G |
A |
9: 106,392,995 (GRCm39) |
R84H |
probably damaging |
Het |
| Itgad |
T |
A |
7: 127,773,146 (GRCm39) |
M1K |
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,758,946 (GRCm39) |
S1292P |
unknown |
Het |
| Macc1 |
C |
A |
12: 119,409,480 (GRCm39) |
Q83K |
possibly damaging |
Het |
| Map3k4 |
G |
T |
17: 12,490,354 (GRCm39) |
A359E |
probably damaging |
Het |
| Mfap3 |
T |
A |
11: 57,419,043 (GRCm39) |
C68S |
probably damaging |
Het |
| Mipep |
C |
T |
14: 61,112,696 (GRCm39) |
R660C |
possibly damaging |
Het |
| Morc2b |
A |
T |
17: 33,354,787 (GRCm39) |
L995Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,313,508 (GRCm39) |
N913S |
probably damaging |
Het |
| N4bp1 |
C |
A |
8: 87,587,495 (GRCm39) |
C481F |
probably benign |
Het |
| Nae1 |
A |
G |
8: 105,252,910 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
A |
2: 31,941,054 (GRCm39) |
V29E |
probably benign |
Het |
| Or1e30 |
A |
T |
11: 73,677,940 (GRCm39) |
M59L |
probably damaging |
Het |
| Or8c11 |
T |
C |
9: 38,289,945 (GRCm39) |
L250P |
probably damaging |
Het |
| Orai1 |
A |
G |
5: 123,167,535 (GRCm39) |
E236G |
possibly damaging |
Het |
| P2rx7 |
A |
G |
5: 122,819,357 (GRCm39) |
Y593C |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,383,113 (GRCm39) |
D77G |
possibly damaging |
Het |
| Pcdha8 |
G |
A |
18: 37,126,840 (GRCm39) |
V441M |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,470,919 (GRCm39) |
S406P |
possibly damaging |
Het |
| Plekhh1 |
C |
A |
12: 79,117,713 (GRCm39) |
P903Q |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,059,064 (GRCm39) |
E92G |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,967,166 (GRCm39) |
F463S |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,835,676 (GRCm39) |
E337A |
probably benign |
Het |
| Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
| Samd3 |
C |
T |
10: 26,106,864 (GRCm39) |
T73M |
possibly damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,840,477 (GRCm39) |
K173* |
probably null |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
G |
16: 91,467,414 (GRCm39) |
N2258K |
unknown |
Het |
| Sspo |
A |
T |
6: 48,442,505 (GRCm39) |
H2000L |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,243,971 (GRCm39) |
S2731N |
probably benign |
Het |
| Syt6 |
T |
C |
3: 103,494,673 (GRCm39) |
Y213H |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,281,779 (GRCm39) |
N99S |
probably benign |
Het |
| Tlcd3b |
T |
C |
7: 126,428,505 (GRCm39) |
L221P |
probably damaging |
Het |
| Tmem258 |
G |
A |
19: 10,181,602 (GRCm39) |
|
probably benign |
Het |
| Tnks1bp1 |
T |
C |
2: 84,902,441 (GRCm39) |
S1702P |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,817,689 (GRCm39) |
D225G |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,289,564 (GRCm39) |
F625L |
probably benign |
Het |
| Ttc33 |
G |
T |
15: 5,241,488 (GRCm39) |
C77F |
probably benign |
Het |
| Ugt1a2 |
A |
G |
1: 88,128,522 (GRCm39) |
H55R |
probably damaging |
Het |
| Vmn1r169 |
G |
T |
7: 23,277,444 (GRCm39) |
V279L |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,805,394 (GRCm39) |
K488E |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,956,504 (GRCm39) |
D39E |
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 |
|
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 |
|
|
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 |
|
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'- GCCCTGTCCTGAATGATTCAATAC -3'
(R):5'- TCATGAAGACCTCAATGGCCTC -3'
Sequencing Primer
(F):5'- ATCTCTGGATCTCCAGGT -3'
(R):5'- ACAGGTCCTGTGCAGATCCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation