Incidental Mutation 'R1055:Pomt2'
| ID |
94297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomt2
|
| Ensembl Gene |
ENSMUSG00000034126 |
| Gene Name |
protein-O-mannosyltransferase 2 |
| Synonyms |
A830009D15Rik |
| MMRRC Submission |
039145-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
87153635-87194742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87194254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 50
(T50M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037788]
[ENSMUST00000063117]
[ENSMUST00000220574]
[ENSMUST00000222634]
[ENSMUST00000222885]
|
| AlphaFold |
Q8BGQ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037788
AA Change: T50M
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: T50M
| 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: ENSMUST00000063117
|
| SMART Domains |
Protein: ENSMUSP00000053540
Gene: ENSMUSG00000021033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
5 |
81 |
4.3e-19 |
PFAM |
|
Pfam:GST_N_3
|
8 |
93 |
1.2e-18 |
PFAM |
|
Pfam:GST_N_2
|
13 |
82 |
3.9e-17 |
PFAM |
|
Pfam:GST_C
|
99 |
197 |
2.5e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222885
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.3%
- 20x: 87.5%
|
| Validation Efficiency |
100% (58/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
G |
14: 64,210,724 (GRCm39) |
V168A |
possibly damaging |
Het |
| A1cf |
C |
A |
19: 31,909,919 (GRCm39) |
T237N |
probably benign |
Het |
| Actl10 |
A |
T |
2: 154,394,588 (GRCm39) |
Q180L |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,059,075 (GRCm39) |
L327P |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,044,685 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
G |
A |
1: 179,591,051 (GRCm39) |
T1243I |
possibly damaging |
Het |
| Akap6 |
C |
T |
12: 52,927,455 (GRCm39) |
Q122* |
probably null |
Het |
| Apob |
G |
A |
12: 8,044,963 (GRCm39) |
G861D |
probably damaging |
Het |
| Arhgef11 |
A |
C |
3: 87,624,425 (GRCm39) |
T539P |
probably benign |
Het |
| Cd244a |
T |
A |
1: 171,404,844 (GRCm39) |
V232E |
probably damaging |
Het |
| Chia1 |
A |
C |
3: 106,038,199 (GRCm39) |
D365A |
probably damaging |
Het |
| Clpsl2 |
C |
T |
17: 28,768,500 (GRCm39) |
Q5* |
probably null |
Het |
| Clrn1 |
T |
A |
3: 58,772,531 (GRCm39) |
I117F |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,744,933 (GRCm39) |
L1354P |
probably damaging |
Het |
| Csn2 |
G |
A |
5: 87,842,596 (GRCm39) |
P144S |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,286,593 (GRCm39) |
M172K |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 66,050,837 (GRCm39) |
W152R |
probably damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,922,864 (GRCm39) |
S82T |
probably benign |
Het |
| Ebf1 |
A |
G |
11: 44,523,602 (GRCm39) |
K146E |
probably damaging |
Het |
| Gfpt2 |
A |
C |
11: 49,718,038 (GRCm39) |
R504S |
probably damaging |
Het |
| Gpank1 |
T |
A |
17: 35,343,284 (GRCm39) |
S255T |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,732,252 (GRCm39) |
M1570V |
probably damaging |
Het |
| Gtf2i |
A |
T |
5: 134,292,478 (GRCm39) |
I403K |
probably damaging |
Het |
| Hoxc11 |
T |
A |
15: 102,863,270 (GRCm39) |
C104S |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ilrun |
T |
C |
17: 27,986,910 (GRCm39) |
N272S |
probably damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,683,238 (GRCm39) |
|
probably benign |
Het |
| Lix1l |
G |
T |
3: 96,528,626 (GRCm39) |
G200V |
probably damaging |
Het |
| Lrrc23 |
T |
C |
6: 124,755,114 (GRCm39) |
N141S |
probably damaging |
Het |
| Marchf11 |
A |
T |
15: 26,309,748 (GRCm39) |
D134V |
probably damaging |
Het |
| Myo9a |
A |
T |
9: 59,762,653 (GRCm39) |
T795S |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,401,223 (GRCm39) |
D782E |
probably benign |
Het |
| Nptxr |
T |
C |
15: 79,674,456 (GRCm39) |
|
probably benign |
Het |
| Nrp1 |
A |
G |
8: 129,195,079 (GRCm39) |
M512V |
possibly damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or12e7 |
ATTGCTACTC |
A |
2: 87,287,781 (GRCm39) |
|
probably benign |
Het |
| Or5b3 |
G |
A |
19: 13,388,754 (GRCm39) |
A274T |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,104,761 (GRCm39) |
F267S |
probably benign |
Het |
| Qsox2 |
A |
G |
2: 26,104,137 (GRCm39) |
Y298H |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,382,080 (GRCm39) |
K450E |
possibly damaging |
Het |
| Rpa1 |
A |
T |
11: 75,193,558 (GRCm39) |
V591D |
probably damaging |
Het |
| Sall3 |
A |
C |
18: 81,013,007 (GRCm39) |
M1143R |
probably benign |
Het |
| Scgb1b19 |
G |
T |
7: 32,986,768 (GRCm39) |
A13S |
unknown |
Het |
| Scn1a |
T |
C |
2: 66,168,340 (GRCm39) |
T89A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sdr42e1 |
T |
G |
8: 118,390,323 (GRCm39) |
N106T |
probably damaging |
Het |
| Shpk |
A |
T |
11: 73,105,945 (GRCm39) |
M266L |
probably benign |
Het |
| Slc34a1 |
G |
T |
13: 55,550,846 (GRCm39) |
R139L |
probably benign |
Het |
| Smbd1 |
C |
A |
16: 32,627,088 (GRCm39) |
D67Y |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,301,485 (GRCm39) |
N238S |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,377,462 (GRCm39) |
N212D |
probably damaging |
Het |
| Uap1 |
G |
T |
1: 169,984,480 (GRCm39) |
|
probably benign |
Het |
| Ugt1a6a |
A |
G |
1: 88,066,736 (GRCm39) |
M181V |
probably benign |
Het |
| Vmn2r32 |
C |
T |
7: 7,477,326 (GRCm39) |
W355* |
probably null |
Het |
| Vmn2r86 |
T |
A |
10: 130,282,226 (GRCm39) |
S797C |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,606,616 (GRCm39) |
S40P |
probably damaging |
Het |
| Zfand6 |
A |
G |
7: 84,265,181 (GRCm39) |
|
probably benign |
Het |
| Zfp280d |
G |
A |
9: 72,236,449 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GCCGTTTAAGTTTCCGTGCTGC -3'
(R):5'- AAGTTTAGCCTTCCCGGCCCAATC -3'
Sequencing Primer
(F):5'- GCTAGGCCACCGCCTAT -3'
(R):5'- TTCTCAGGAGAGACCCTCATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation