Incidental Mutation 'R4680:B3gnt2'
ID |
349992 |
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 |
041933-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R4680 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
22784739-22810336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22787105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 28
(S28P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055549]
[ENSMUST00000062844]
[ENSMUST00000160826]
[ENSMUST00000173660]
|
AlphaFold |
Q9Z222 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055549
AA Change: S28P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000053528 Gene: ENSMUSG00000051650 AA Change: S28P
Domain | Start | End | E-Value | Type |
Pfam:Galactosyl_T
|
156 |
351 |
2.9e-43 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062844
AA Change: S28P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000060247 Gene: ENSMUSG00000051650 AA Change: S28P
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: S28P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174690
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189990
|
Meta Mutation Damage Score |
0.2923 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
96% (48/50) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
T |
2: 151,315,390 (GRCm39) |
L96Q |
probably damaging |
Het |
4931414P19Rik |
T |
C |
14: 54,822,533 (GRCm39) |
Y368C |
probably damaging |
Het |
Acin1 |
T |
C |
14: 54,924,215 (GRCm39) |
N8S |
probably benign |
Het |
Aspm |
T |
C |
1: 139,408,409 (GRCm39) |
V2432A |
probably benign |
Het |
Atf2 |
A |
T |
2: 73,659,025 (GRCm39) |
|
probably null |
Het |
Chil5 |
A |
G |
3: 105,942,191 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
Dennd3 |
A |
T |
15: 73,405,225 (GRCm39) |
H326L |
possibly damaging |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,118,475 (GRCm39) |
V461A |
possibly damaging |
Het |
Fhad1 |
G |
A |
4: 141,738,858 (GRCm39) |
Q31* |
probably null |
Het |
Gpr26 |
A |
G |
7: 131,576,082 (GRCm39) |
T249A |
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,386,735 (GRCm39) |
M958L |
probably damaging |
Het |
Kat2b-ps |
A |
G |
5: 93,539,299 (GRCm39) |
|
noncoding transcript |
Het |
Kdm2b |
A |
T |
5: 123,072,849 (GRCm39) |
V343E |
probably damaging |
Het |
Lipi |
A |
G |
16: 75,362,417 (GRCm39) |
|
probably null |
Het |
Ltb4r1 |
T |
C |
14: 56,004,925 (GRCm39) |
F76S |
probably damaging |
Het |
Msantd2 |
A |
G |
9: 37,434,387 (GRCm39) |
Y209C |
probably damaging |
Het |
Nid1 |
G |
A |
13: 13,647,437 (GRCm39) |
C401Y |
probably damaging |
Het |
Obox1 |
A |
T |
7: 15,290,089 (GRCm39) |
N144I |
probably damaging |
Het |
Or14j7 |
T |
C |
17: 38,234,813 (GRCm39) |
S119P |
probably damaging |
Het |
Or8h9 |
T |
C |
2: 86,789,665 (GRCm39) |
I46V |
possibly damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,517 (GRCm39) |
I105F |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,064,775 (GRCm39) |
E1630G |
unknown |
Het |
Ppp2r5e |
C |
T |
12: 75,516,533 (GRCm39) |
R218Q |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,589,894 (GRCm39) |
T2586A |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,290,840 (GRCm39) |
N633S |
probably benign |
Het |
Rab11fip2 |
T |
C |
19: 59,924,452 (GRCm39) |
N284S |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Ropn1 |
A |
G |
16: 34,497,675 (GRCm39) |
Q189R |
possibly damaging |
Het |
Rwdd2b |
A |
G |
16: 87,233,950 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
T |
13: 11,610,119 (GRCm39) |
S4236T |
probably benign |
Het |
Sigmar1 |
A |
G |
4: 41,741,251 (GRCm39) |
M1T |
probably null |
Het |
Sncg |
T |
A |
14: 34,095,268 (GRCm39) |
N79I |
probably benign |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,763,021 (GRCm39) |
G3213S |
probably damaging |
Het |
Uqcrc1 |
G |
A |
9: 108,776,929 (GRCm39) |
R77H |
probably damaging |
Het |
Vps13d |
A |
C |
4: 144,835,080 (GRCm39) |
L2756R |
possibly damaging |
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 |
R0094:B3gnt2
|
UTSW |
11 |
22,786,655 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCTCCCCTGTCTGATTGG -3'
(R):5'- CCCCTTTGTAGATGGAAAAGTTG -3'
Sequencing Primer
(F):5'- GATTGGCCACCCTGTTCAAGATG -3'
(R):5'- ATACAGAATGGGTCTCACTGTGTAGC -3'
|
Posted On |
2015-10-08 |