Incidental Mutation 'R4428:Pomgnt2'
ID |
328279 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pomgnt2
|
Ensembl Gene |
ENSMUSG00000066235 |
Gene Name |
protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 |
Synonyms |
Gtdc2, C85492 |
MMRRC Submission |
041698-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121810675-121825116 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121811320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 487
(E487G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043011]
[ENSMUST00000084743]
[ENSMUST00000213773]
[ENSMUST00000214511]
[ENSMUST00000214533]
[ENSMUST00000214536]
[ENSMUST00000216669]
[ENSMUST00000217610]
[ENSMUST00000215990]
[ENSMUST00000215084]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043011
|
SMART Domains |
Protein: ENSMUSP00000040221 Gene: ENSMUSG00000038233
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
Pfam:FAM198
|
220 |
544 |
1.3e-150 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084743
AA Change: E487G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000095868 Gene: ENSMUSG00000066235 AA Change: E487G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
Pfam:DUF563
|
162 |
395 |
1.7e-25 |
PFAM |
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
SCOP:d1f6fb2
|
482 |
580 |
6e-9 |
SMART |
Blast:FN3
|
486 |
570 |
2e-49 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213773
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214511
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214533
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214536
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216669
AA Change: E487G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217610
AA Change: E487G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215008
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215990
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215084
|
Meta Mutation Damage Score |
0.0847 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth body size and complete neonatal lethality associated with abnormal basal lamina formation and a neuronal migration defect due to a lack of laminin-binding glycans on alpha-dystroglycan. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,263,164 (GRCm39) |
V708E |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,283,943 (GRCm39) |
Y82C |
probably benign |
Het |
Cd82 |
T |
C |
2: 93,250,214 (GRCm39) |
Y266C |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cmpk1 |
T |
C |
4: 114,820,559 (GRCm39) |
E180G |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,177,863 (GRCm39) |
I2066T |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fgf3 |
T |
C |
7: 144,394,444 (GRCm39) |
V86A |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,561,759 (GRCm39) |
I916T |
probably benign |
Het |
Gsk3b |
T |
A |
16: 38,014,298 (GRCm39) |
L252Q |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,118,466 (GRCm39) |
T94A |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,315,000 (GRCm39) |
|
probably benign |
Het |
Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,380,055 (GRCm39) |
D701G |
possibly damaging |
Het |
Mbd5 |
A |
T |
2: 49,169,776 (GRCm39) |
Q47L |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,623,558 (GRCm39) |
D1049G |
possibly damaging |
Het |
Olfml2a |
G |
T |
2: 38,831,755 (GRCm39) |
M111I |
probably damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,025 (GRCm39) |
F15S |
probably damaging |
Het |
Pld2 |
A |
T |
11: 70,432,160 (GRCm39) |
H93L |
probably damaging |
Het |
Psg17 |
G |
T |
7: 18,550,717 (GRCm39) |
N379K |
probably benign |
Het |
Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,881,784 (GRCm39) |
Y617C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,498,087 (GRCm39) |
F31S |
probably benign |
Het |
Shq1 |
T |
C |
6: 100,647,889 (GRCm39) |
Y45C |
probably damaging |
Het |
Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
Skp2 |
A |
T |
15: 9,117,034 (GRCm39) |
N325K |
probably benign |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sp8 |
T |
A |
12: 118,812,938 (GRCm39) |
S264R |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,220,230 (GRCm39) |
|
probably benign |
Het |
Tardbp |
A |
G |
4: 148,709,659 (GRCm39) |
V54A |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
T |
4: 3,569,534 (GRCm39) |
I52K |
probably benign |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Umps |
A |
C |
16: 33,781,956 (GRCm39) |
V322G |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,773,286 (GRCm39) |
D445G |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,322,590 (GRCm39) |
G43E |
probably damaging |
Het |
|
Other mutations in Pomgnt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00596:Pomgnt2
|
APN |
9 |
121,812,191 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01911:Pomgnt2
|
APN |
9 |
121,811,854 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01943:Pomgnt2
|
APN |
9 |
121,811,536 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02955:Pomgnt2
|
APN |
9 |
121,811,956 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:Pomgnt2
|
UTSW |
9 |
121,811,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R0080:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0602:Pomgnt2
|
UTSW |
9 |
121,811,339 (GRCm39) |
missense |
probably benign |
0.02 |
R0715:Pomgnt2
|
UTSW |
9 |
121,811,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R1491:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Pomgnt2
|
UTSW |
9 |
121,811,257 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1909:Pomgnt2
|
UTSW |
9 |
121,811,257 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2041:Pomgnt2
|
UTSW |
9 |
121,811,354 (GRCm39) |
missense |
probably benign |
0.00 |
R4578:Pomgnt2
|
UTSW |
9 |
121,812,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Pomgnt2
|
UTSW |
9 |
121,812,013 (GRCm39) |
missense |
probably benign |
0.19 |
R4937:Pomgnt2
|
UTSW |
9 |
121,811,620 (GRCm39) |
missense |
probably benign |
0.05 |
R5409:Pomgnt2
|
UTSW |
9 |
121,811,303 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6090:Pomgnt2
|
UTSW |
9 |
121,811,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6596:Pomgnt2
|
UTSW |
9 |
121,811,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7152:Pomgnt2
|
UTSW |
9 |
121,812,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCAGGGTCAGCATGTAAG -3'
(R):5'- TGATCCGGGAGAACACAGTCAC -3'
Sequencing Primer
(F):5'- GCATGTAAGGCACATACGTGTTCTC -3'
(R):5'- TATCCTGCAGAGCCGAGAG -3'
|
Posted On |
2015-07-07 |