Incidental Mutation 'R7864:Pomt2'
| ID |
607733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomt2
|
| Ensembl Gene |
ENSMUSG00000034126 |
| Gene Name |
protein-O-mannosyltransferase 2 |
| Synonyms |
A830009D15Rik |
| MMRRC Submission |
045917-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
87153635-87194742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87169656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 475
(F475L)
|
| 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: F475L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: F475L
| 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: F405L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| Acot2 |
C |
T |
12: 84,034,796 (GRCm39) |
R41W |
probably benign |
Het |
| Adam32 |
T |
A |
8: 25,412,292 (GRCm39) |
H88L |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,577,976 (GRCm39) |
T238A |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,392,530 (GRCm39) |
L1967P |
probably damaging |
Het |
| Bbx |
G |
T |
16: 50,082,797 (GRCm39) |
H216Q |
probably damaging |
Het |
| C030005K15Rik |
G |
A |
10: 97,561,614 (GRCm39) |
T39M |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,602,246 (GRCm39) |
V655A |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,414,906 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ces1f |
G |
A |
8: 94,000,769 (GRCm39) |
A125V |
possibly damaging |
Het |
| Chaf1a |
C |
T |
17: 56,354,339 (GRCm39) |
T203I |
unknown |
Het |
| Cntn5 |
A |
G |
9: 9,984,182 (GRCm39) |
S144P |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,631,394 (GRCm39) |
Y436F |
probably damaging |
Het |
| Dbf4 |
A |
T |
5: 8,460,010 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,140,864 (GRCm39) |
D1360V |
possibly damaging |
Het |
| Ecm1 |
A |
T |
3: 95,641,689 (GRCm39) |
I515N |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,548,073 (GRCm39) |
C75* |
probably null |
Het |
| Foxa1 |
A |
T |
12: 57,589,533 (GRCm39) |
V229D |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,772,444 (GRCm39) |
M248T |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,980,619 (GRCm39) |
Q573R |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,312,290 (GRCm39) |
H1510P |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,747,157 (GRCm39) |
I45S |
probably damaging |
Het |
| Itsn1 |
T |
C |
16: 91,598,454 (GRCm39) |
V129A |
possibly damaging |
Het |
| Klrg2 |
G |
T |
6: 38,605,024 (GRCm39) |
Q347K |
possibly damaging |
Het |
| Lama2 |
G |
A |
10: 26,932,611 (GRCm39) |
T1996I |
probably benign |
Het |
| Man1a |
C |
A |
10: 53,906,843 (GRCm39) |
L219F |
possibly damaging |
Het |
| Mcub |
A |
G |
3: 129,712,272 (GRCm39) |
I201T |
probably damaging |
Het |
| Or10q1 |
A |
G |
19: 13,726,710 (GRCm39) |
D80G |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,705,428 (GRCm39) |
L633P |
probably damaging |
Het |
| Pate9 |
A |
T |
9: 36,445,747 (GRCm39) |
F68Y |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,497,762 (GRCm39) |
L429* |
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,389,449 (GRCm39) |
|
probably null |
Het |
| Pld4 |
C |
A |
12: 112,731,557 (GRCm39) |
Q237K |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,357 (GRCm39) |
E897G |
probably damaging |
Het |
| Popdc3 |
G |
A |
10: 45,191,278 (GRCm39) |
A130T |
probably benign |
Het |
| Prss54 |
T |
C |
8: 96,286,297 (GRCm39) |
K259E |
probably benign |
Het |
| Psg23 |
T |
G |
7: 18,344,435 (GRCm39) |
N340T |
possibly damaging |
Het |
| Rab1a |
G |
T |
11: 20,165,673 (GRCm39) |
G23* |
probably null |
Het |
| Rgs9 |
A |
T |
11: 109,166,446 (GRCm39) |
F108Y |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,314,904 (GRCm39) |
T1605S |
possibly damaging |
Het |
| Sh2d4b |
G |
A |
14: 40,562,208 (GRCm39) |
T319I |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,726,217 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
A |
T |
17: 27,189,502 (GRCm39) |
Q1286L |
|
Het |
| Tmem132d |
G |
A |
5: 127,860,980 (GRCm39) |
T1047I |
probably damaging |
Het |
| Togaram2 |
G |
A |
17: 72,007,935 (GRCm39) |
R420H |
probably damaging |
Het |
| Uimc1 |
G |
A |
13: 55,241,080 (GRCm39) |
R3* |
probably null |
Het |
| Vmn2r7 |
C |
T |
3: 64,598,947 (GRCm39) |
V537I |
probably benign |
Het |
| Wwp1 |
T |
A |
4: 19,635,328 (GRCm39) |
K584N |
probably damaging |
Het |
| Zc3h12d |
A |
T |
10: 7,715,723 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,769,569 (GRCm39) |
V220E |
probably benign |
Het |
| Zfp91 |
A |
G |
19: 12,748,403 (GRCm39) |
V391A |
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 |
|
|
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 |
|
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'- AGGAAGGCTCACTGAAAGTATC -3'
(R):5'- TACACAGATGCTTTGCTGCAC -3'
Sequencing Primer
(F):5'- GGCTCACTGAAAGTATCCTCAAAGTC -3'
(R):5'- ACAGATGCTTTGCTGCACAAGTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation