Incidental Mutation 'IGL02120:Pomt2'
| ID |
280555 |
| 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 # |
IGL02120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
87153635-87194742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87158326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 656
(D656G)
|
| 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: D656G
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: D656G
| 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
AA Change: D586G
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,087,654 (GRCm39) |
Y1037C |
probably damaging |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,202 (GRCm39) |
T113A |
possibly damaging |
Het |
| Aox3 |
T |
A |
1: 58,166,809 (GRCm39) |
N177K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,797,906 (GRCm39) |
V532E |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,719,916 (GRCm39) |
G401V |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,600,771 (GRCm39) |
M950K |
probably damaging |
Het |
| Cfap107 |
C |
T |
4: 144,144,981 (GRCm39) |
R195H |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,553,291 (GRCm39) |
V211A |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,542 (GRCm39) |
N212S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
| Dlst |
T |
C |
12: 85,165,342 (GRCm39) |
S82P |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,027,245 (GRCm39) |
L2118M |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,534,876 (GRCm39) |
K2795E |
possibly damaging |
Het |
| Enpp5 |
T |
A |
17: 44,391,736 (GRCm39) |
M55K |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,778,641 (GRCm39) |
S50T |
probably damaging |
Het |
| Gm7808 |
T |
A |
9: 19,839,313 (GRCm39) |
|
probably benign |
Het |
| Huwe1 |
T |
A |
X: 150,690,386 (GRCm39) |
F2485I |
possibly damaging |
Het |
| Kcnb2 |
C |
T |
1: 15,780,085 (GRCm39) |
T319M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,023,784 (GRCm39) |
V60M |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,671,693 (GRCm39) |
L79Q |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,433,451 (GRCm39) |
|
probably null |
Het |
| Mob2 |
C |
A |
7: 141,564,035 (GRCm39) |
V33L |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,535,661 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,044,169 (GRCm39) |
G490D |
probably damaging |
Het |
| Or13n4 |
A |
C |
7: 106,422,905 (GRCm39) |
V276G |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,286,816 (GRCm39) |
V177A |
probably damaging |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,069 (GRCm39) |
|
probably benign |
Het |
| Prp2rt |
G |
T |
13: 97,235,285 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,503,333 (GRCm39) |
E775G |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,956,181 (GRCm39) |
I549V |
probably benign |
Het |
| Ranbp10 |
T |
C |
8: 106,532,214 (GRCm39) |
Y145C |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,846,884 (GRCm39) |
T223S |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,948,831 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,993,480 (GRCm39) |
D2085G |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,245,761 (GRCm39) |
R1064Q |
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,826,065 (GRCm39) |
T204A |
probably benign |
Het |
| Tdpoz1 |
A |
G |
3: 93,577,750 (GRCm39) |
S345P |
probably damaging |
Het |
| Tgm4 |
T |
A |
9: 122,875,594 (GRCm39) |
I149N |
probably damaging |
Het |
| Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,634,436 (GRCm39) |
F372L |
possibly damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,592,997 (GRCm39) |
L786M |
probably benign |
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 |
|
IGL02233:Pomt2
|
APN |
12 |
87,158,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
Incidental Mutation