Incidental Mutation 'R6979:Pomt2'
| ID |
542625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomt2
|
| Ensembl Gene |
ENSMUSG00000034126 |
| Gene Name |
protein-O-mannosyltransferase 2 |
| Synonyms |
A830009D15Rik |
| MMRRC Submission |
045087-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
87153635-87194742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87177125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 287
(I287M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037788]
[ENSMUST00000222634]
|
| AlphaFold |
Q8BGQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037788
AA Change: I357M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: I357M
| 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 damaging
Transcript: ENSMUST00000222634
AA Change: I287M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4644 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
C |
T |
3: 59,947,424 (GRCm39) |
T374M |
probably benign |
Het |
| Aspg |
A |
G |
12: 112,087,378 (GRCm39) |
D278G |
possibly damaging |
Het |
| Aspm |
C |
A |
1: 139,408,223 (GRCm39) |
A2370E |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,702,873 (GRCm39) |
M65T |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
| Cpne3 |
G |
A |
4: 19,533,098 (GRCm39) |
T279I |
probably benign |
Het |
| Ctdspl |
G |
A |
9: 118,869,598 (GRCm39) |
V227M |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,619,376 (GRCm39) |
E99G |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,896,095 (GRCm39) |
S728P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,358,163 (GRCm39) |
I512T |
possibly damaging |
Het |
| Dop1a |
A |
T |
9: 86,403,695 (GRCm39) |
T1630S |
possibly damaging |
Het |
| Dqx1 |
A |
G |
6: 83,037,992 (GRCm39) |
D460G |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,567 (GRCm39) |
|
probably benign |
Het |
| H2-Q2 |
T |
A |
17: 35,564,623 (GRCm39) |
|
probably null |
Het |
| Hes6 |
T |
C |
1: 91,340,810 (GRCm39) |
E17G |
possibly damaging |
Het |
| Ighv1-42 |
T |
C |
12: 114,900,848 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Itfg2 |
T |
C |
6: 128,388,554 (GRCm39) |
D311G |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,356 (GRCm39) |
C489S |
probably damaging |
Het |
| Map4k5 |
A |
T |
12: 69,869,622 (GRCm39) |
C488S |
probably damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,825 (GRCm39) |
G377D |
possibly damaging |
Het |
| Mat2a |
A |
G |
6: 72,412,096 (GRCm39) |
V318A |
probably damaging |
Het |
| Mpp7 |
T |
G |
18: 7,355,049 (GRCm39) |
N459T |
possibly damaging |
Het |
| Mrc2 |
C |
A |
11: 105,239,461 (GRCm39) |
N1348K |
probably damaging |
Het |
| Mroh5 |
T |
C |
15: 73,664,978 (GRCm39) |
K264R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,608,930 (GRCm39) |
M1529V |
possibly damaging |
Het |
| Mtrr |
C |
T |
13: 68,718,122 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
C |
T |
8: 73,394,288 (GRCm39) |
P517L |
probably damaging |
Het |
| Or4a27 |
T |
A |
2: 88,559,528 (GRCm39) |
R138S |
probably benign |
Het |
| Or8h10 |
A |
G |
2: 86,808,577 (GRCm39) |
S188P |
probably damaging |
Het |
| Polr1c |
A |
G |
17: 46,557,095 (GRCm39) |
F63L |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,582,400 (GRCm39) |
|
probably null |
Het |
| Prkar2a |
T |
A |
9: 108,610,342 (GRCm39) |
N190K |
possibly damaging |
Het |
| Prl3d3 |
T |
A |
13: 27,341,545 (GRCm39) |
Y59N |
possibly damaging |
Het |
| Prl5a1 |
T |
A |
13: 28,335,189 (GRCm39) |
F199L |
probably benign |
Het |
| Prpf38b |
A |
G |
3: 108,818,640 (GRCm39) |
V40A |
probably benign |
Het |
| Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,141,311 (GRCm39) |
D586G |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,802,879 (GRCm39) |
K1312E |
probably damaging |
Het |
| Smok3c |
A |
G |
5: 138,062,987 (GRCm39) |
D158G |
probably benign |
Het |
| Spen |
A |
T |
4: 141,205,374 (GRCm39) |
D1084E |
unknown |
Het |
| Tcp11l1 |
C |
T |
2: 104,536,784 (GRCm39) |
G27D |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,076,094 (GRCm39) |
S1679P |
possibly damaging |
Het |
| Tmem259 |
C |
T |
10: 79,814,391 (GRCm39) |
V322I |
possibly damaging |
Het |
| Tmpo |
A |
T |
10: 90,988,359 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,555,137 (GRCm39) |
A30623S |
probably damaging |
Het |
| Ube2l3 |
G |
A |
16: 16,977,841 (GRCm39) |
|
probably benign |
Het |
| Unkl |
A |
G |
17: 25,418,890 (GRCm39) |
D146G |
probably damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,186 (GRCm39) |
H34L |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,576,265 (GRCm39) |
T379A |
possibly damaging |
Het |
| Zfp35 |
G |
T |
18: 24,136,927 (GRCm39) |
G424C |
probably benign |
Het |
| Zfp420 |
T |
A |
7: 29,575,446 (GRCm39) |
H555Q |
probably damaging |
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 |
|
|
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 |
|
|
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'- AGAGTGTCCCCACCTTCATC -3'
(R):5'- AGCTGGCCTATATTATCTCCTTGAAG -3'
Sequencing Primer
(F):5'- ATCCTAACCTCAGGCCTGG -3'
(R):5'- ATCTCCTTGAAGTGTATGTGTGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation