Incidental Mutation 'IGL02233:Pomt2'
ID |
285804 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pomt2
|
Ensembl Gene |
ENSMUSG00000034126 |
Gene Name |
protein-O-mannosyltransferase 2 |
Synonyms |
A830009D15Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02233
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
87153635-87194742 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87158185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 676
(V676A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037788]
[ENSMUST00000222634]
|
AlphaFold |
Q8BGQ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037788
AA Change: V676A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000035260 Gene: ENSMUSG00000034126 AA Change: V676A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
Pfam:PMT
|
132 |
376 |
5.4e-91 |
PFAM |
MIR
|
404 |
460 |
4.05e-9 |
SMART |
MIR
|
473 |
529 |
5.52e-11 |
SMART |
MIR
|
534 |
591 |
1.21e-7 |
SMART |
Pfam:PMT_4TMC
|
608 |
818 |
5.9e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222634
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes an integral membrane protein that belongs to the dolichyl-phosphate-mannose-protein mannosyltransferase family. The encoded enzyme is found in the membrane of the endoplasmic reticulum. This protein is a component of the protein O-mannosyltransferase enzyme complex which is involved in modification of the protein alpha-dystroglycan. Mutations in the human gene are a cause of different forms of muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known as Walker-Warburg syndrome), type B2 and type C2 (also known as limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015] PHENOTYPE: Mice homozygous for one knock-out allele die between E8.5 and E9.5 with abnormal Reichert's membrane and runting. Mice homozygous for another allele die before implantation and arrest at the morula stage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
G |
A |
11: 110,165,170 (GRCm39) |
Q1581* |
probably null |
Het |
Abcc10 |
A |
T |
17: 46,635,085 (GRCm39) |
|
probably null |
Het |
Adam25 |
A |
G |
8: 41,208,423 (GRCm39) |
Y563C |
probably damaging |
Het |
Cnr2 |
T |
A |
4: 135,644,522 (GRCm39) |
I200N |
possibly damaging |
Het |
Col5a2 |
T |
C |
1: 45,422,747 (GRCm39) |
|
probably null |
Het |
Cpa2 |
T |
C |
6: 30,557,666 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
T |
C |
1: 86,917,953 (GRCm39) |
V534A |
probably damaging |
Het |
Dlg2 |
A |
T |
7: 92,093,746 (GRCm39) |
D845V |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,925,487 (GRCm39) |
|
probably null |
Het |
Ephb4 |
T |
A |
5: 137,352,763 (GRCm39) |
Y115* |
probably null |
Het |
Evc2 |
A |
G |
5: 37,535,681 (GRCm39) |
Y452C |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,163,530 (GRCm39) |
|
probably benign |
Het |
Gm5134 |
A |
T |
10: 75,844,334 (GRCm39) |
|
probably null |
Het |
Gpr157 |
A |
G |
4: 150,186,184 (GRCm39) |
T249A |
possibly damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,308 (GRCm39) |
T91A |
probably benign |
Het |
Lin9 |
C |
A |
1: 180,516,865 (GRCm39) |
A535E |
probably damaging |
Het |
Muc1 |
G |
A |
3: 89,138,935 (GRCm39) |
V515I |
probably benign |
Het |
Mup3 |
A |
G |
4: 62,003,016 (GRCm39) |
I170T |
probably damaging |
Het |
Myo1e |
T |
C |
9: 70,291,081 (GRCm39) |
|
probably benign |
Het |
Or3a1d |
A |
G |
11: 74,238,254 (GRCm39) |
V52A |
possibly damaging |
Het |
Or8b50 |
A |
G |
9: 38,518,538 (GRCm39) |
Y259C |
probably damaging |
Het |
Pde4d |
T |
C |
13: 109,877,084 (GRCm39) |
S202P |
probably damaging |
Het |
Rasl10a |
C |
A |
11: 5,008,333 (GRCm39) |
L10M |
probably damaging |
Het |
Rilp |
T |
C |
11: 75,403,538 (GRCm39) |
Y327H |
probably damaging |
Het |
Sec23ip |
A |
G |
7: 128,380,903 (GRCm39) |
S957G |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,406,050 (GRCm39) |
|
probably null |
Het |
Thsd7a |
T |
C |
6: 12,555,257 (GRCm39) |
H209R |
probably benign |
Het |
Trav14-3 |
T |
C |
14: 54,000,643 (GRCm39) |
|
probably benign |
Het |
Vipr2 |
A |
G |
12: 116,058,356 (GRCm39) |
N91S |
probably damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
Other mutations in Pomt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00495:Pomt2
|
APN |
12 |
87,171,630 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00508:Pomt2
|
APN |
12 |
87,166,401 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01069:Pomt2
|
APN |
12 |
87,157,078 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01688:Pomt2
|
APN |
12 |
87,194,294 (GRCm39) |
missense |
probably benign |
|
IGL01887:Pomt2
|
APN |
12 |
87,166,363 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02120:Pomt2
|
APN |
12 |
87,158,326 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02305:Pomt2
|
APN |
12 |
87,164,703 (GRCm39) |
splice site |
probably benign |
|
IGL02372:Pomt2
|
APN |
12 |
87,169,609 (GRCm39) |
splice site |
probably benign |
|
IGL02516:Pomt2
|
APN |
12 |
87,166,420 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02616:Pomt2
|
APN |
12 |
87,171,636 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03039:Pomt2
|
APN |
12 |
87,157,140 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03385:Pomt2
|
APN |
12 |
87,163,330 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4366001:Pomt2
|
UTSW |
12 |
87,163,303 (GRCm39) |
critical splice donor site |
probably null |
|
R1055:Pomt2
|
UTSW |
12 |
87,194,254 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1716:Pomt2
|
UTSW |
12 |
87,171,610 (GRCm39) |
missense |
probably benign |
0.03 |
R1880:Pomt2
|
UTSW |
12 |
87,182,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1881:Pomt2
|
UTSW |
12 |
87,182,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Pomt2
|
UTSW |
12 |
87,158,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2443:Pomt2
|
UTSW |
12 |
87,180,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R2913:Pomt2
|
UTSW |
12 |
87,175,743 (GRCm39) |
missense |
probably damaging |
0.98 |
R4036:Pomt2
|
UTSW |
12 |
87,158,296 (GRCm39) |
critical splice donor site |
probably null |
|
R4482:Pomt2
|
UTSW |
12 |
87,178,604 (GRCm39) |
missense |
probably benign |
0.41 |
R4647:Pomt2
|
UTSW |
12 |
87,164,857 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4758:Pomt2
|
UTSW |
12 |
87,169,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Pomt2
|
UTSW |
12 |
87,156,881 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5071:Pomt2
|
UTSW |
12 |
87,180,234 (GRCm39) |
missense |
probably damaging |
0.96 |
R5074:Pomt2
|
UTSW |
12 |
87,180,234 (GRCm39) |
missense |
probably damaging |
0.96 |
R5132:Pomt2
|
UTSW |
12 |
87,157,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R5514:Pomt2
|
UTSW |
12 |
87,175,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R5790:Pomt2
|
UTSW |
12 |
87,174,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R6128:Pomt2
|
UTSW |
12 |
87,158,109 (GRCm39) |
critical splice donor site |
probably null |
|
R6370:Pomt2
|
UTSW |
12 |
87,155,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R6631:Pomt2
|
UTSW |
12 |
87,186,417 (GRCm39) |
critical splice donor site |
probably null |
|
R6979:Pomt2
|
UTSW |
12 |
87,177,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R7057:Pomt2
|
UTSW |
12 |
87,174,152 (GRCm39) |
missense |
probably damaging |
0.96 |
R7114:Pomt2
|
UTSW |
12 |
87,157,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R7690:Pomt2
|
UTSW |
12 |
87,177,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R7864:Pomt2
|
UTSW |
12 |
87,169,656 (GRCm39) |
missense |
probably benign |
0.00 |
R8060:Pomt2
|
UTSW |
12 |
87,175,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R8695:Pomt2
|
UTSW |
12 |
87,156,790 (GRCm39) |
missense |
probably benign |
0.12 |
R8851:Pomt2
|
UTSW |
12 |
87,184,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R9176:Pomt2
|
UTSW |
12 |
87,194,451 (GRCm39) |
intron |
probably benign |
|
R9407:Pomt2
|
UTSW |
12 |
87,157,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Pomt2
|
UTSW |
12 |
87,184,802 (GRCm39) |
missense |
possibly damaging |
0.48 |
X0026:Pomt2
|
UTSW |
12 |
87,158,149 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1177:Pomt2
|
UTSW |
12 |
87,186,455 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pomt2
|
UTSW |
12 |
87,158,216 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Posted On |
2015-04-16 |