Incidental Mutation 'R4482:Pomt2'
| ID |
501797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomt2
|
| Ensembl Gene |
ENSMUSG00000034126 |
| Gene Name |
protein-O-mannosyltransferase 2 |
| Synonyms |
A830009D15Rik |
| MMRRC Submission |
041738-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4482 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
87153635-87194742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87178604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 290
(P290S)
|
| 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: P290S
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: P290S
| 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: ENSMUST00000222147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222634
AA Change: P220S
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
A |
G |
11: 3,845,008 (GRCm39) |
V27A |
possibly damaging |
Het |
| Actn3 |
A |
T |
19: 4,913,436 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,243,801 (GRCm39) |
Y642C |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,228 (GRCm39) |
D1187G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,275,072 (GRCm39) |
|
probably benign |
Het |
| Bsn |
C |
A |
9: 107,991,863 (GRCm39) |
K1296N |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,597,715 (GRCm39) |
D58G |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,795 (GRCm39) |
F467L |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,536 (GRCm39) |
Y904H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,205,530 (GRCm39) |
|
probably null |
Het |
| Fhip1b |
A |
T |
7: 105,038,881 (GRCm39) |
F119L |
probably benign |
Het |
| Git1 |
T |
A |
11: 77,391,333 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Itga6 |
T |
A |
2: 71,686,259 (GRCm39) |
I1059N |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,051 (GRCm39) |
Y475F |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,970,710 (GRCm39) |
I199T |
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 41,007,425 (GRCm39) |
M503V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,577,075 (GRCm39) |
T2192A |
unknown |
Het |
| Nexn |
T |
C |
3: 151,948,390 (GRCm39) |
E391G |
probably damaging |
Het |
| Or5h22 |
G |
T |
16: 58,895,286 (GRCm39) |
H52Q |
probably benign |
Het |
| Parg |
A |
G |
14: 31,984,731 (GRCm39) |
I254V |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rasl10a |
T |
A |
11: 5,008,429 (GRCm39) |
Y42N |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,708,480 (GRCm39) |
F871L |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,980,935 (GRCm39) |
|
probably null |
Het |
| Trim21 |
G |
A |
7: 102,213,140 (GRCm39) |
Q53* |
probably null |
Het |
| Triobp |
T |
C |
15: 78,850,763 (GRCm39) |
S306P |
possibly damaging |
Het |
| Vasn |
A |
T |
16: 4,466,190 (GRCm39) |
T46S |
possibly damaging |
Het |
| Wmp |
T |
A |
X: 106,990,237 (GRCm39) |
L225F |
possibly damaging |
Het |
| Zfp236 |
A |
T |
18: 82,662,346 (GRCm39) |
F529Y |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGTAAGCAGCACTGTGG -3'
(R):5'- CTCTCACAGTGACTTGCCTG -3'
Sequencing Primer
(F):5'- GACATTTCCACAAGCGCTTGAG -3'
(R):5'- CTCACAGTGACTTGCCTGTAGTTTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation