Incidental Mutation 'R0094:B3gnt2'
| ID |
17968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3gnt2
|
| Ensembl Gene |
ENSMUSG00000051650 |
| Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 |
| Synonyms |
B3gnt1, B3Galt6 |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
22784739-22810336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22786655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 178
(R178G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055549]
[ENSMUST00000062844]
[ENSMUST00000160826]
[ENSMUST00000173660]
|
| AlphaFold |
Q9Z222 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055549
AA Change: R178G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: R178G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Galactosyl_T
|
156 |
351 |
2.9e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062844
AA Change: R178G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: R178G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Galactosyl_T
|
156 |
351 |
2.9e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160826
|
| SMART Domains |
Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
1 |
99 |
1.3e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173660
AA Change: R178G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189990
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 84.5%
- 3x: 75.9%
- 10x: 43.5%
- 20x: 12.9%
|
| Validation Efficiency |
86% (51/59) |
| 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 beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli. Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages. Homozygotes for a reporter allele display behavioral despair and reduced anxiety. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted(3) Gene trapped(2)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,203,427 (GRCm39) |
|
probably benign |
Het |
| 4930432E11Rik |
A |
G |
7: 29,260,236 (GRCm39) |
|
noncoding transcript |
Het |
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,277,171 (GRCm39) |
D2034E |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Ctsj |
A |
C |
13: 61,151,519 (GRCm39) |
|
probably null |
Het |
| Dap3 |
T |
A |
3: 88,834,335 (GRCm39) |
M294L |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,509,108 (GRCm39) |
N269S |
possibly damaging |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Eif2b1 |
A |
G |
5: 124,709,829 (GRCm39) |
F250L |
probably benign |
Het |
| Emc1 |
T |
A |
4: 139,087,796 (GRCm39) |
F100Y |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,344 (GRCm39) |
M112L |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,078,917 (GRCm39) |
Y445C |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,172,042 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,846,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Mybpc2 |
A |
G |
7: 44,166,328 (GRCm39) |
Y221H |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,468 (GRCm39) |
I2323N |
possibly damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,926,016 (GRCm39) |
A64T |
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 80,005,588 (GRCm39) |
D933E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,599,681 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,338 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Serping1 |
T |
G |
2: 84,603,620 (GRCm39) |
R140S |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,221,310 (GRCm39) |
F252S |
probably benign |
Het |
| Spata45 |
A |
G |
1: 190,772,059 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,896,635 (GRCm39) |
S1174P |
probably benign |
Het |
| Ss18l2 |
T |
C |
9: 121,541,699 (GRCm39) |
L64P |
probably benign |
Het |
| Tmem81 |
A |
G |
1: 132,435,787 (GRCm39) |
I198V |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,894,929 (GRCm38) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,708,791 (GRCm39) |
T130I |
probably benign |
Het |
|
| Other mutations in B3gnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:B3gnt2
|
APN |
11 |
22,786,151 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01061:B3gnt2
|
APN |
11 |
22,786,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01123:B3gnt2
|
APN |
11 |
22,786,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01455:B3gnt2
|
APN |
11 |
22,787,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:B3gnt2
|
UTSW |
11 |
22,786,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0747:B3gnt2
|
UTSW |
11 |
22,786,316 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1163:B3gnt2
|
UTSW |
11 |
22,786,558 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2016:B3gnt2
|
UTSW |
11 |
22,786,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:B3gnt2
|
UTSW |
11 |
22,786,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:B3gnt2
|
UTSW |
11 |
22,786,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:B3gnt2
|
UTSW |
11 |
22,786,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3768:B3gnt2
|
UTSW |
11 |
22,786,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4604:B3gnt2
|
UTSW |
11 |
22,786,426 (GRCm39) |
frame shift |
probably null |
|
|
R4680:B3gnt2
|
UTSW |
11 |
22,787,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5623:B3gnt2
|
UTSW |
11 |
22,787,018 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6589:B3gnt2
|
UTSW |
11 |
22,787,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6731:B3gnt2
|
UTSW |
11 |
22,786,888 (GRCm39) |
nonsense |
probably null |
|
|
R7391:B3gnt2
|
UTSW |
11 |
22,786,482 (GRCm39) |
nonsense |
probably null |
|
|
R7970:B3gnt2
|
UTSW |
11 |
22,786,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:B3gnt2
|
UTSW |
11 |
22,786,373 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8801:B3gnt2
|
UTSW |
11 |
22,787,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Nature of Mutation |
Three transcripts of the B3gnt2 gene are displayed on Ensembl.
|
| Protein Function and Prediction |
B3gnt2 encodes the 397 amino acid ubiquitously expressed β1,3-N-acetylglucosaminyltransferase 2 (β3GnT2). β3GnT2 is a member of the β3GnTs that function in the initiation and extension of lactosamine chains on glycoproteins and glycolipids (1;2). β3GnT2 is a single-pass type 2 transmembrane protein localized to the Golgi (3). Using a knockout mouse model, studies determined that β3GnT2 is required for sensory axon connection formation and normal glomerular formation during olfactory development (1). In addition, β3GnT2 regulates the expression of poly-N-acetyllactosamine (PLN) glycans on adenylyl cyclase 3 (AC3); these glycans are required for cAMP synthesis/signaling in olfactory neurons (4).
B3gnt2Gt(KST308)Byg/ Gt(KST308)Byg; MGI: 3576265
involves: 129P2/OlaHsd * C57BL/6
Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli (1).
B3gnt2Gt(OST237555)Lex/ Gt(OST237555)Lex; MGI: 3529146
involves: 129S5/SvEvBrd * C57BL/6N
Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages (5).
B3gnt2tm1Dgen/tm1Dgen; MGI:3604461
involves: 129P2/OlaHsd * C57BL/6
Homozygotes for a reporter allele display behavioral despair and reduced anxiety.
|
| References |
1. Henion, T. R., Raitcheva, D., Grosholz, R., Biellmann, F., Skarnes, W. C., Hennet, T., and Schwarting, G. A. (2005) Beta1,3-N-Acetylglucosaminyltransferase 1 Glycosylation is Required for Axon Pathfinding by Olfactory Sensory Neurons. J Neurosci. 25, 1894-1903.
2. Zhou, D., Dinter, A., Gutierrez Gallego, R., Kamerling, J. P., Vliegenthart, J. F., Berger, E. G., and Hennet, T. (1999) A Beta-1,3-N-Acetylglucosaminyltransferase with Poly-N-Acetyllactosamine Synthase Activity is Structurally Related to Beta-1,3-Galactosyltransferases. Proc Natl Acad Sci U S A. 96, 406-411.
3. Shiraishi, N., Natsume, A., Togayachi, A., Endo, T., Akashima, T., Yamada, Y., Imai, N., Nakagawa, S., Koizumi, S., Sekine, S., Narimatsu, H., and Sasaki, K. (2001) Identification and Characterization of Three Novel Beta 1,3-N-Acetylglucosaminyltransferases Structurally Related to the Beta 1,3-Galactosyltransferase Family. J Biol Chem. 276, 3498-3507.
5. Togayachi, A., Kozono, Y., Ishida, H., Abe, S., Suzuki, N., Tsunoda, Y., Hagiwara, K., Kuno, A., Ohkura, T., Sato, N., Sato, T., Hirabayashi, J., Ikehara, Y., Tachibana, K., and Narimatsu, H. (2007) Polylactosamine on Glycoproteins Influences Basal Levels of Lymphocyte and Macrophage Activation. Proc Natl Acad Sci U S A. 104, 15829-15834. |
| Posted On |
2013-03-25 |
| Science Writer |
Anne Murray |
Incidental Mutation