Incidental Mutation 'R6699:Mgat2'
| ID |
528694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgat2
|
| Ensembl Gene |
ENSMUSG00000043998 |
| Gene Name |
mannoside acetylglucosaminyltransferase 2 |
| Synonyms |
GNT2, GNT-II, CDGS2 |
| MMRRC Submission |
044817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
R6699 (G1)
|
| Quality Score |
158.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69230931-69233544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69231555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 43
(D43G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021356]
[ENSMUST00000054544]
[ENSMUST00000060579]
[ENSMUST00000110619]
[ENSMUST00000110620]
|
| AlphaFold |
Q921V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021356
|
| SMART Domains |
Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
Pfam:PIH1
|
43 |
352 |
2e-99 |
PFAM |
|
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
|
SCOP:d1keka4
|
398 |
460 |
4e-3 |
SMART |
|
low complexity region
|
672 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054544
|
| SMART Domains |
Protein: ENSMUSP00000059766
Gene: ENSMUSG00000049751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L44
|
17 |
94 |
6.3e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060579
AA Change: D43G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057905
Gene: ENSMUSG00000043998
AA Change: D43G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:MGAT2
|
87 |
435 |
2.4e-158 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110619
|
| SMART Domains |
Protein: ENSMUSP00000106249
Gene: ENSMUSG00000049751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L44
|
17 |
95 |
1.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110620
|
| SMART Domains |
Protein: ENSMUSP00000106250
Gene: ENSMUSG00000049751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L44
|
17 |
95 |
1.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223192
|
| Meta Mutation Damage Score |
0.0636 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice recapitulate aspects of the phenotype exhibited by patients with congenital disorders of glycosylation (CDG), particularly type IIa. Most null mice died either embyronically or postnataly and exhibited muscular, gastrointestinal, hematologic, and osteogenic defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
G |
8: 41,279,694 (GRCm39) |
K695R |
probably benign |
Het |
| Agfg1 |
G |
A |
1: 82,836,175 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,604 (GRCm39) |
T241I |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,438 (GRCm39) |
D166G |
probably null |
Het |
| Cpne2 |
G |
A |
8: 95,290,587 (GRCm39) |
V391M |
probably damaging |
Het |
| Ddx27 |
C |
T |
2: 166,862,423 (GRCm39) |
T155I |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,341 (GRCm39) |
D417G |
probably damaging |
Het |
| Fam217b |
T |
G |
2: 178,062,210 (GRCm39) |
M58R |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,793 (GRCm39) |
T894A |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,464,737 (GRCm39) |
S18P |
possibly damaging |
Het |
| Gm16494 |
C |
T |
17: 47,327,834 (GRCm39) |
V17M |
probably damaging |
Het |
| Gm36864 |
A |
T |
7: 43,888,196 (GRCm39) |
I342F |
possibly damaging |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| H4c12 |
A |
T |
13: 21,934,674 (GRCm39) |
M1K |
probably null |
Het |
| Hmgcr |
T |
C |
13: 96,796,717 (GRCm39) |
E191G |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,119 (GRCm39) |
D90G |
possibly damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,632 (GRCm39) |
E488G |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,603 (GRCm39) |
N6S |
unknown |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Or10ag58 |
A |
T |
2: 87,265,160 (GRCm39) |
I110F |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,458,031 (GRCm39) |
I47L |
possibly damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,990 (GRCm39) |
V440E |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,625,005 (GRCm39) |
H778Q |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,734,410 (GRCm39) |
E1025G |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
| Rph3al |
A |
T |
11: 75,791,663 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,110,032 (GRCm39) |
Y556N |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,241 (GRCm39) |
C401S |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,025,193 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem54 |
A |
G |
4: 129,005,118 (GRCm39) |
I199M |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,963,165 (GRCm39) |
M395V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,262,300 (GRCm39) |
V328A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,580 (GRCm39) |
S667A |
probably benign |
Het |
| Vmn2r68 |
G |
A |
7: 84,881,583 (GRCm39) |
A499V |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,355 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mgat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01723:Mgat2
|
APN |
12 |
69,232,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02428:Mgat2
|
APN |
12 |
69,231,558 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL03064:Mgat2
|
APN |
12 |
69,231,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Mgat2
|
UTSW |
12 |
69,232,166 (GRCm39) |
missense |
probably benign |
|
|
R1698:Mgat2
|
UTSW |
12 |
69,232,493 (GRCm39) |
missense |
probably benign |
|
|
R1759:Mgat2
|
UTSW |
12 |
69,232,301 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2130:Mgat2
|
UTSW |
12 |
69,232,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Mgat2
|
UTSW |
12 |
69,232,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Mgat2
|
UTSW |
12 |
69,232,158 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6265:Mgat2
|
UTSW |
12 |
69,231,567 (GRCm39) |
missense |
probably benign |
|
|
R6841:Mgat2
|
UTSW |
12 |
69,232,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7692:Mgat2
|
UTSW |
12 |
69,231,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Mgat2
|
UTSW |
12 |
69,232,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9152:Mgat2
|
UTSW |
12 |
69,232,497 (GRCm39) |
nonsense |
probably null |
|
|
R9719:Mgat2
|
UTSW |
12 |
69,232,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Mgat2
|
UTSW |
12 |
69,231,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Mgat2
|
UTSW |
12 |
69,232,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAACTGCCAGAGAGGATG -3'
(R):5'- TACCGACGTTCCTCAGCATC -3'
Sequencing Primer
(F):5'- AGCCCGGGATGAGTTAGC -3'
(R):5'- CAGCATCTGATCGAAGTTCAACTGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation