Incidental Mutation 'R6370:Pomt2'
| ID |
513492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomt2
|
| Ensembl Gene |
ENSMUSG00000034126 |
| Gene Name |
protein-O-mannosyltransferase 2 |
| Synonyms |
A830009D15Rik |
| MMRRC Submission |
044520-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6370 (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 87155973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 818
(W818R)
|
| 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: W818R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: W818R
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
95% (54/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb6 |
A |
G |
2: 30,717,024 (GRCm39) |
V67A |
probably damaging |
Het |
| Atic |
T |
A |
1: 71,617,819 (GRCm39) |
F590I |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,277,586 (GRCm39) |
F351S |
probably damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,583 (GRCm39) |
N92S |
probably benign |
Het |
| Carm1 |
G |
T |
9: 21,498,815 (GRCm39) |
A518S |
probably benign |
Het |
| Ccar1 |
C |
T |
10: 62,600,308 (GRCm39) |
R541H |
probably damaging |
Het |
| Cfhr2 |
A |
T |
1: 139,750,065 (GRCm39) |
L96Q |
probably damaging |
Het |
| Chrnb4 |
A |
G |
9: 54,942,143 (GRCm39) |
L377S |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,376,058 (GRCm39) |
Y639H |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 95,991,050 (GRCm39) |
M717I |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,390,852 (GRCm39) |
M153T |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,783 (GRCm39) |
S222P |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,593,523 (GRCm39) |
|
probably null |
Het |
| Entpd2 |
G |
A |
2: 25,287,429 (GRCm39) |
G47S |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,405,943 (GRCm39) |
M1158T |
possibly damaging |
Het |
| Faah |
T |
C |
4: 115,860,253 (GRCm39) |
D333G |
probably damaging |
Het |
| Foxred2 |
T |
A |
15: 77,827,506 (GRCm39) |
T618S |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpx5 |
A |
T |
13: 21,472,872 (GRCm39) |
|
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,646,334 (GRCm39) |
V98A |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,333,368 (GRCm39) |
I312T |
probably damaging |
Het |
| Krtap21-1 |
T |
C |
16: 89,200,519 (GRCm39) |
Y41C |
unknown |
Het |
| Larp6 |
A |
G |
9: 60,644,646 (GRCm39) |
E262G |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,546,185 (GRCm39) |
Y661C |
probably damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,906 (GRCm39) |
V244A |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,017,558 (GRCm39) |
C517R |
probably damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,527,689 (GRCm39) |
D257G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,907,825 (GRCm39) |
S1145P |
probably benign |
Het |
| Nosip |
G |
T |
7: 44,726,164 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
T |
A |
2: 88,329,712 (GRCm39) |
C94* |
probably null |
Het |
| Or51f2 |
A |
T |
7: 102,526,377 (GRCm39) |
T17S |
probably benign |
Het |
| Or52n1 |
T |
C |
7: 104,383,124 (GRCm39) |
K149R |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,477,543 (GRCm39) |
S112P |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,922,987 (GRCm39) |
I1015K |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,293 (GRCm39) |
M558K |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,367,904 (GRCm39) |
N4647K |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Rxrg |
T |
C |
1: 167,462,006 (GRCm39) |
V227A |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,825 (GRCm39) |
S341T |
possibly damaging |
Het |
| Skint5 |
T |
G |
4: 113,471,307 (GRCm39) |
Q983P |
unknown |
Het |
| Slc6a18 |
G |
A |
13: 73,816,278 (GRCm39) |
T367I |
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,277,483 (GRCm39) |
L344P |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,922,069 (GRCm39) |
F399I |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sugt1 |
T |
C |
14: 79,847,774 (GRCm39) |
V208A |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,045,107 (GRCm39) |
K480E |
probably damaging |
Het |
| Thop1 |
C |
T |
10: 80,913,817 (GRCm39) |
T186I |
probably benign |
Het |
| Trim55 |
G |
A |
3: 19,745,650 (GRCm39) |
E509K |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,821 (GRCm39) |
N469S |
unknown |
Het |
| Usp24 |
G |
T |
4: 106,237,718 (GRCm39) |
K1125N |
probably null |
Het |
| Usp5 |
A |
T |
6: 124,797,391 (GRCm39) |
D494E |
probably benign |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,143 (GRCm39) |
K481R |
probably damaging |
Het |
| Vps16 |
C |
A |
2: 130,285,304 (GRCm39) |
A787D |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,407,226 (GRCm39) |
H488Y |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,790,807 (GRCm39) |
A2053S |
probably benign |
Het |
| Zfp74 |
A |
T |
7: 29,631,835 (GRCm39) |
D136E |
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 |
|
|
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'- TTCCTTGTGCTTCACAGGAAC -3'
(R):5'- CAGCACAGGGACTTAGAGTTAG -3'
Sequencing Primer
(F):5'- AGCAGTGCTGTAGGTCACG -3'
(R):5'- CACAGGGACTTAGAGTTAGAGCTCC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation