Incidental Mutation 'IGL02305:Pomt2'
| ID |
287566 |
| 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 # |
IGL02305
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
87153635-87194742 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 87164703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037788]
[ENSMUST00000222634]
|
| AlphaFold |
Q8BGQ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037788
|
| SMART Domains |
Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
| 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 |
noncoding transcript
Transcript: ENSMUST00000221252
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,921,048 (GRCm39) |
T599I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,846,796 (GRCm39) |
T409A |
probably benign |
Het |
| Apol10b |
T |
A |
15: 77,469,630 (GRCm39) |
R182S |
possibly damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,590 (GRCm39) |
F492L |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,406,173 (GRCm39) |
D173G |
probably damaging |
Het |
| Ccndbp1 |
T |
C |
2: 120,841,933 (GRCm39) |
L67P |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,122,678 (GRCm39) |
V2093I |
probably benign |
Het |
| Eps15l1 |
T |
C |
8: 73,140,853 (GRCm39) |
K213R |
probably null |
Het |
| Fat4 |
A |
T |
3: 39,064,137 (GRCm39) |
N4698Y |
probably damaging |
Het |
| Frmpd1 |
G |
T |
4: 45,249,209 (GRCm39) |
R133L |
probably damaging |
Het |
| Gdi2 |
T |
A |
13: 3,606,428 (GRCm39) |
M158K |
probably damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,901,025 (GRCm39) |
Y156C |
probably damaging |
Het |
| Iho1 |
A |
T |
9: 108,283,031 (GRCm39) |
M219K |
possibly damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,819,374 (GRCm39) |
|
probably benign |
Het |
| Men1 |
T |
C |
19: 6,390,168 (GRCm39) |
L566P |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,706,551 (GRCm39) |
W153R |
probably damaging |
Het |
| Mug2 |
T |
G |
6: 122,013,015 (GRCm39) |
L309R |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,700,836 (GRCm39) |
*2165R |
probably null |
Het |
| Ogfod2 |
T |
C |
5: 124,250,910 (GRCm39) |
|
probably null |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Or8g20 |
A |
T |
9: 39,396,333 (GRCm39) |
I72N |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,985 (GRCm39) |
L366P |
probably damaging |
Het |
| Pdlim4 |
A |
T |
11: 53,946,759 (GRCm39) |
L117H |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,852,467 (GRCm39) |
A672V |
probably benign |
Het |
| Prpf4 |
T |
A |
4: 62,333,633 (GRCm39) |
|
probably benign |
Het |
| Rad17 |
C |
T |
13: 100,770,370 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,475,622 (GRCm39) |
I4499F |
probably damaging |
Het |
| Sav1 |
A |
G |
12: 70,033,550 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
A |
T |
15: 83,491,591 (GRCm39) |
F887I |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,195,179 (GRCm39) |
S473G |
probably benign |
Het |
| Taf1b |
T |
C |
12: 24,594,270 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem135 |
A |
T |
7: 88,814,331 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,263,118 (GRCm39) |
N114K |
probably benign |
Het |
| Ypel5 |
A |
T |
17: 73,155,591 (GRCm39) |
Y53F |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,674 (GRCm39) |
V428A |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,757,423 (GRCm39) |
|
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 |
|
IGL02120:Pomt2
|
APN |
12 |
87,158,326 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02233:Pomt2
|
APN |
12 |
87,158,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
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