Incidental Mutation 'R6090:Pomgnt2'
ID |
486151 |
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 |
044247-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6090 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
121810675-121825116 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121811863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 306
(L306Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043011]
[ENSMUST00000084743]
[ENSMUST00000213773]
[ENSMUST00000214511]
[ENSMUST00000214533]
[ENSMUST00000214536]
[ENSMUST00000217610]
[ENSMUST00000216669]
[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 |
probably damaging
Transcript: ENSMUST00000084743
AA Change: L306Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095868 Gene: ENSMUSG00000066235 AA Change: L306Q
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 |
noncoding transcript
Transcript: ENSMUST00000215008
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217610
AA Change: L306Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216669
AA Change: L306Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215990
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215084
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
Validation Efficiency |
|
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 |
A2m |
C |
T |
6: 121,624,972 (GRCm39) |
A450V |
probably benign |
Het |
Abca8a |
T |
C |
11: 109,954,048 (GRCm39) |
|
probably null |
Het |
Adgrl3 |
A |
T |
5: 81,660,173 (GRCm39) |
N246I |
probably damaging |
Het |
Bmal2 |
T |
A |
6: 146,731,194 (GRCm39) |
S500T |
possibly damaging |
Het |
Cdipt |
A |
T |
7: 126,576,131 (GRCm39) |
M29L |
possibly damaging |
Het |
Chml |
G |
T |
1: 175,514,624 (GRCm39) |
Y432* |
probably null |
Het |
Clasp2 |
G |
T |
9: 113,681,803 (GRCm39) |
V320L |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,599,675 (GRCm39) |
T826M |
probably damaging |
Het |
Cpsf3 |
A |
G |
12: 21,345,194 (GRCm39) |
I169V |
probably damaging |
Het |
Dhx36 |
G |
A |
3: 62,404,241 (GRCm39) |
T234M |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,571,375 (GRCm39) |
|
probably null |
Het |
Dnah1 |
A |
T |
14: 30,991,382 (GRCm39) |
I3132N |
possibly damaging |
Het |
Fbxw20 |
G |
T |
9: 109,052,431 (GRCm39) |
Q231K |
probably benign |
Het |
Gfod1 |
G |
T |
13: 43,354,437 (GRCm39) |
Y179* |
probably null |
Het |
Glg1 |
T |
A |
8: 111,907,667 (GRCm39) |
I510F |
probably damaging |
Het |
Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gse1 |
C |
A |
8: 121,297,908 (GRCm39) |
|
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Klrd1 |
T |
C |
6: 129,572,499 (GRCm39) |
L97P |
probably damaging |
Het |
Lgmn |
A |
T |
12: 102,366,413 (GRCm39) |
M240K |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,075,880 (GRCm39) |
|
probably null |
Het |
Notch2 |
A |
T |
3: 98,042,693 (GRCm39) |
R1353* |
probably null |
Het |
Or2d2b |
A |
G |
7: 106,705,456 (GRCm39) |
V204A |
possibly damaging |
Het |
Or5t18 |
A |
C |
2: 86,636,701 (GRCm39) |
V214G |
possibly damaging |
Het |
Pcdhb14 |
G |
A |
18: 37,581,659 (GRCm39) |
S255N |
probably benign |
Het |
Pcgf2 |
C |
T |
11: 97,581,817 (GRCm39) |
M25I |
possibly damaging |
Het |
Poll |
G |
T |
19: 45,544,436 (GRCm39) |
D328E |
probably benign |
Het |
Proser1 |
A |
T |
3: 53,386,088 (GRCm39) |
M657L |
probably benign |
Het |
Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
Rdh11 |
G |
T |
12: 79,235,838 (GRCm39) |
P37T |
probably benign |
Het |
Rsph10b |
A |
T |
5: 143,913,946 (GRCm39) |
I286L |
probably benign |
Het |
Septin4 |
G |
A |
11: 87,480,343 (GRCm39) |
R238K |
possibly damaging |
Het |
Sptan1 |
C |
T |
2: 29,883,899 (GRCm39) |
R580C |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,524,135 (GRCm39) |
W777R |
probably damaging |
Het |
Timd2 |
T |
C |
11: 46,578,063 (GRCm39) |
T23A |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,674,052 (GRCm39) |
Y376H |
probably damaging |
Het |
Tmem143 |
A |
G |
7: 45,558,950 (GRCm39) |
I297M |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,014,575 (GRCm39) |
T609A |
probably benign |
Het |
Tyw3 |
T |
C |
3: 154,302,704 (GRCm39) |
H10R |
probably benign |
Het |
Unc13b |
C |
A |
4: 43,239,306 (GRCm39) |
H3456Q |
probably damaging |
Het |
Zfp131 |
A |
T |
13: 120,237,532 (GRCm39) |
H275Q |
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 |
R4428:Pomgnt2
|
UTSW |
9 |
121,811,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |
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'- TGTGGCCAGCGTCTTATAGG -3'
(R):5'- ACCAATACGGCTTTGTACAGC -3'
Sequencing Primer
(F):5'- CGTAAGGGAAGAGTTCAACCAC -3'
(R):5'- GCTTTGTACAGCCCCAGG -3'
|
Posted On |
2017-08-16 |