Incidental Mutation 'R1880:Pomt2'
ID |
209059 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pomt2
|
Ensembl Gene |
ENSMUSG00000034126 |
Gene Name |
protein-O-mannosyltransferase 2 |
Synonyms |
A830009D15Rik |
MMRRC Submission |
039901-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1880 (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 T
at 87182370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 219
(A219D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037788]
[ENSMUST00000222634]
|
AlphaFold |
Q8BGQ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037788
AA Change: A219D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000035260 Gene: ENSMUSG00000034126 AA Change: A219D
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 damaging
Transcript: ENSMUST00000222634
AA Change: A149D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.2%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
A |
G |
17: 14,072,615 (GRCm39) |
D846G |
possibly damaging |
Het |
Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
Atp10b |
G |
T |
11: 43,150,259 (GRCm39) |
G1319V |
probably damaging |
Het |
Axl |
T |
C |
7: 25,473,973 (GRCm39) |
T315A |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,695,523 (GRCm39) |
L1323F |
probably benign |
Het |
Btnl2 |
A |
G |
17: 34,584,337 (GRCm39) |
E420G |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,316,581 (GRCm39) |
W293R |
probably damaging |
Het |
Cd209f |
A |
G |
8: 4,155,464 (GRCm39) |
|
probably null |
Het |
Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,841,394 (GRCm39) |
K1259R |
unknown |
Het |
Dpysl3 |
A |
T |
18: 43,462,939 (GRCm39) |
|
probably null |
Het |
Dus4l |
T |
C |
12: 31,690,869 (GRCm39) |
I261V |
probably benign |
Het |
Ell3 |
T |
C |
2: 121,270,792 (GRCm39) |
D247G |
probably benign |
Het |
Erg |
G |
A |
16: 95,178,168 (GRCm39) |
T246I |
probably benign |
Het |
Eva1c |
T |
C |
16: 90,694,303 (GRCm39) |
I196T |
possibly damaging |
Het |
Fbxo43 |
T |
C |
15: 36,162,661 (GRCm39) |
D182G |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,690,444 (GRCm39) |
|
probably null |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gata4 |
G |
T |
14: 63,442,144 (GRCm39) |
P20Q |
probably damaging |
Het |
Gmnc |
T |
C |
16: 26,784,361 (GRCm39) |
D48G |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
Habp2 |
A |
G |
19: 56,306,260 (GRCm39) |
I481V |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
Hnrnpul1 |
A |
G |
7: 25,432,523 (GRCm39) |
V380A |
possibly damaging |
Het |
Hspa2 |
G |
A |
12: 76,452,694 (GRCm39) |
D463N |
possibly damaging |
Het |
Itga11 |
A |
G |
9: 62,585,231 (GRCm39) |
D2G |
probably benign |
Het |
Kel |
G |
A |
6: 41,664,479 (GRCm39) |
L653F |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,288,184 (GRCm39) |
Y748C |
probably damaging |
Het |
Lpxn |
A |
G |
19: 12,781,452 (GRCm39) |
K57E |
probably benign |
Het |
Ltbp2 |
G |
T |
12: 84,876,045 (GRCm39) |
H501N |
probably benign |
Het |
Macf1 |
G |
A |
4: 123,332,384 (GRCm39) |
A2419V |
probably damaging |
Het |
Map3k12 |
A |
G |
15: 102,410,499 (GRCm39) |
|
probably null |
Het |
Megf8 |
G |
A |
7: 25,034,285 (GRCm39) |
V668I |
possibly damaging |
Het |
Mmp10 |
T |
C |
9: 7,505,575 (GRCm39) |
S280P |
probably benign |
Het |
Neb |
C |
A |
2: 52,148,743 (GRCm39) |
M2601I |
probably damaging |
Het |
Nsd1 |
T |
A |
13: 55,361,606 (GRCm39) |
N191K |
probably damaging |
Het |
Or2w1 |
A |
T |
13: 21,317,802 (GRCm39) |
N286Y |
probably damaging |
Het |
Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
Or5w14 |
C |
A |
2: 87,541,639 (GRCm39) |
G204C |
probably damaging |
Het |
Or6c214 |
A |
G |
10: 129,591,290 (GRCm39) |
F10L |
probably benign |
Het |
Patj |
C |
T |
4: 98,385,477 (GRCm39) |
P364S |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,655,770 (GRCm39) |
V39A |
probably benign |
Het |
Pira13 |
C |
T |
7: 3,827,950 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,388,638 (GRCm39) |
I1332F |
probably benign |
Het |
Polq |
T |
C |
16: 36,906,954 (GRCm39) |
V2026A |
possibly damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,571,294 (GRCm39) |
Y678N |
possibly damaging |
Het |
Rpf2 |
T |
C |
10: 40,109,154 (GRCm39) |
D95G |
possibly damaging |
Het |
Sema3c |
A |
T |
5: 17,932,464 (GRCm39) |
K656* |
probably null |
Het |
Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
Snap25 |
G |
A |
2: 136,619,305 (GRCm39) |
V153M |
probably damaging |
Het |
Snrnp70 |
T |
C |
7: 45,026,786 (GRCm39) |
|
probably null |
Het |
Tas2r144 |
C |
T |
6: 42,193,004 (GRCm39) |
T248I |
probably benign |
Het |
Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
Usp38 |
T |
C |
8: 81,727,695 (GRCm39) |
E346G |
probably damaging |
Het |
Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
Vmn1r91 |
A |
T |
7: 19,835,698 (GRCm39) |
S206C |
probably damaging |
Het |
Vps36 |
T |
C |
8: 22,703,578 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
T |
C |
5: 102,065,301 (GRCm39) |
N1289S |
probably benign |
Het |
Zfp759 |
T |
C |
13: 67,287,276 (GRCm39) |
C276R |
probably damaging |
Het |
Zkscan17 |
G |
A |
11: 59,378,455 (GRCm39) |
Q243* |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTACTGATTTCCAACCACC -3'
(R):5'- GATGGGGAGCCTGATTCTTC -3'
Sequencing Primer
(F):5'- TGATTTCCAACCACCCACATGG -3'
(R):5'- GAGCCTGATTCTTCCTGTAAATG -3'
|
Posted On |
2014-06-30 |