Incidental Mutation 'R8851:Pomt2'
| ID |
675023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomt2
|
| Ensembl Gene |
ENSMUSG00000034126 |
| Gene Name |
protein-O-mannosyltransferase 2 |
| Synonyms |
A830009D15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
87153635-87194742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87184838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 196
(T196I)
|
| 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: T196I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: T196I
| 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: T126I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,159,683 (GRCm39) |
I279F |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,075,163 (GRCm39) |
N965S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,691,535 (GRCm39) |
Y1142C |
probably damaging |
Het |
| Apoa4 |
A |
G |
9: 46,153,906 (GRCm39) |
K169R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,084 (GRCm39) |
K74N |
probably benign |
Het |
| Defa39 |
T |
A |
8: 22,193,555 (GRCm39) |
I22F |
possibly damaging |
Het |
| Dgcr2 |
G |
A |
16: 17,690,507 (GRCm39) |
T41I |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,690,300 (GRCm39) |
V245A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,398 (GRCm39) |
S715T |
probably benign |
Het |
| Epb41l1 |
A |
T |
2: 156,364,431 (GRCm39) |
H980L |
probably benign |
Het |
| Erc2 |
A |
T |
14: 28,039,216 (GRCm39) |
E973V |
probably null |
Het |
| Fam124b |
T |
A |
1: 80,190,882 (GRCm39) |
Q167L |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,217,643 (GRCm39) |
E46G |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,312,186 (GRCm39) |
V4I |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,256,922 (GRCm39) |
N841K |
probably damaging |
Het |
| Gnpat |
A |
G |
8: 125,601,004 (GRCm39) |
H161R |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,197,062 (GRCm39) |
M206L |
possibly damaging |
Het |
| Grid2ip |
T |
C |
5: 143,348,352 (GRCm39) |
F148L |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,213,412 (GRCm39) |
V128A |
probably benign |
Het |
| Ism1 |
G |
T |
2: 139,591,465 (GRCm39) |
S273I |
probably damaging |
Het |
| Kcnab3 |
G |
T |
11: 69,218,990 (GRCm39) |
|
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,291,993 (GRCm39) |
Y1430H |
unknown |
Het |
| Lama2 |
A |
G |
10: 27,242,119 (GRCm39) |
V279A |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,804,680 (GRCm39) |
W119* |
probably null |
Het |
| Lrrc42 |
A |
G |
4: 107,096,375 (GRCm39) |
V276A |
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,270,618 (GRCm39) |
F163L |
probably damaging |
Het |
| Map2k2 |
A |
G |
10: 80,955,097 (GRCm39) |
K196R |
probably damaging |
Het |
| Mfsd11 |
C |
A |
11: 116,752,479 (GRCm39) |
D209E |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,138,425 (GRCm39) |
F422L |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,631,273 (GRCm39) |
H391R |
probably benign |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Nfatc2ip |
T |
C |
7: 125,986,617 (GRCm39) |
Q346R |
probably damaging |
Het |
| Or8g2b |
A |
G |
9: 39,751,600 (GRCm39) |
Y290C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,299 (GRCm39) |
D430E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,325,155 (GRCm39) |
E929G |
probably damaging |
Het |
| Pip4p2 |
T |
C |
4: 14,912,491 (GRCm39) |
M200T |
possibly damaging |
Het |
| Plekhf1 |
C |
T |
7: 37,921,466 (GRCm39) |
R34H |
probably damaging |
Het |
| Plekhm2 |
A |
T |
4: 141,358,639 (GRCm39) |
V622E |
probably benign |
Het |
| Ppp1r12c |
C |
T |
7: 4,487,703 (GRCm39) |
G436D |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,687,081 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,900,402 (GRCm39) |
I176T |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,755,790 (GRCm39) |
V36E |
probably damaging |
Het |
| Slc7a1 |
A |
C |
5: 148,285,093 (GRCm39) |
S133R |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,073 (GRCm39) |
Y376H |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,062,935 (GRCm39) |
I280T |
probably benign |
Het |
| Svop |
T |
A |
5: 114,192,557 (GRCm39) |
I187F |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,896 (GRCm39) |
I57F |
|
Het |
| Tead3 |
A |
G |
17: 28,551,704 (GRCm39) |
V463A |
probably damaging |
Het |
| Tenm4 |
G |
C |
7: 96,501,710 (GRCm39) |
G1305R |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,900,677 (GRCm39) |
F594L |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,334,573 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,593,090 (GRCm39) |
I254V |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,219 (GRCm39) |
M559V |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,643,437 (GRCm39) |
H358Q |
probably null |
Het |
| Zcwpw1 |
A |
C |
5: 137,820,626 (GRCm39) |
D597A |
probably damaging |
Het |
| Zfp318 |
A |
T |
17: 46,710,761 (GRCm39) |
Y828F |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,032,194 (GRCm39) |
N582I |
possibly 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 |
|
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 |
|
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'- TGGGTTCAATCACTGTCTGTCC -3'
(R):5'- CTGTGGCACAAGAAAGGGTTTG -3'
Sequencing Primer
(F):5'- GTCTGTCCTCACTTCCCTGAAG -3'
(R):5'- AAGATCATTTACTGGGTGGCAGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation