Incidental Mutation 'IGL00435:Pgm2'
ID |
5623 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pgm2
|
Ensembl Gene |
ENSMUSG00000029171 |
Gene Name |
phosphoglucomutase 2 |
Synonyms |
Pgm-1, 3230402E02Rik, Pgm1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00435
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
64250293-64285694 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 64265612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087324]
|
AlphaFold |
Q7TSV4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087324
|
SMART Domains |
Protein: ENSMUSP00000084582 Gene: ENSMUSG00000029171
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
Pfam:PGM_PMM_I
|
62 |
211 |
7.8e-37 |
PFAM |
Pfam:PGM_PMM_II
|
235 |
344 |
1.9e-25 |
PFAM |
Pfam:PGM_PMM_III
|
351 |
480 |
4.6e-15 |
PFAM |
Pfam:PGM_PMM_IV
|
523 |
603 |
5.5e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177427
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197577
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199093
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Four electrophoretic variants are known, each with a 5-band pattern: the a allele in C57BL/6, BALB/c and AKR; b allele in DBA/2 and SJL; c allele in C3H/He; and d allele in 129/Re. Heterozygotes show a mixture of bands. Mice homozygous for a spontaneous null allele or ENU induced alleles are viable. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
A |
T |
17: 68,152,796 (GRCm39) |
D657E |
probably damaging |
Het |
Cd200l1 |
A |
T |
16: 45,264,483 (GRCm39) |
L25Q |
probably damaging |
Het |
Cd68 |
T |
C |
11: 69,556,676 (GRCm39) |
T44A |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,733,678 (GRCm39) |
T555M |
probably damaging |
Het |
Cep170b |
A |
G |
12: 112,701,628 (GRCm39) |
Q169R |
probably damaging |
Het |
Cs |
T |
C |
10: 128,195,912 (GRCm39) |
F374L |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,393,226 (GRCm39) |
E181G |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,800,625 (GRCm39) |
T133A |
probably benign |
Het |
Esr2 |
G |
A |
12: 76,180,653 (GRCm39) |
R423W |
probably damaging |
Het |
Eya4 |
T |
C |
10: 23,034,995 (GRCm39) |
Y120C |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,206,202 (GRCm39) |
M582T |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,863,953 (GRCm39) |
D2575V |
probably damaging |
Het |
Ghsr |
A |
G |
3: 27,426,532 (GRCm39) |
E196G |
possibly damaging |
Het |
Gm10024 |
G |
A |
10: 77,547,295 (GRCm39) |
|
probably benign |
Het |
Gpr65 |
A |
G |
12: 98,241,815 (GRCm39) |
E156G |
probably damaging |
Het |
Gtf3c3 |
T |
C |
1: 54,466,694 (GRCm39) |
Y249C |
possibly damaging |
Het |
H2-T23 |
G |
A |
17: 36,342,673 (GRCm39) |
A155V |
probably damaging |
Het |
Hadha |
A |
G |
5: 30,327,171 (GRCm39) |
S556P |
probably benign |
Het |
Hdac7 |
T |
A |
15: 97,707,376 (GRCm39) |
K187N |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,452,255 (GRCm39) |
I332V |
probably benign |
Het |
Kank1 |
A |
G |
19: 25,407,600 (GRCm39) |
D1198G |
probably benign |
Het |
Kdr |
A |
G |
5: 76,129,410 (GRCm39) |
L159P |
probably damaging |
Het |
Me2 |
T |
C |
18: 73,903,713 (GRCm39) |
E585G |
probably benign |
Het |
Nfu1 |
A |
T |
6: 86,992,577 (GRCm39) |
T64S |
probably damaging |
Het |
Nsd3 |
A |
G |
8: 26,166,728 (GRCm39) |
D632G |
probably benign |
Het |
Pcna |
T |
C |
2: 132,093,852 (GRCm39) |
D97G |
probably benign |
Het |
Phactr1 |
C |
A |
13: 43,110,122 (GRCm39) |
R2S |
probably damaging |
Het |
Psmd11 |
T |
A |
11: 80,361,210 (GRCm39) |
I347N |
possibly damaging |
Het |
Rad21l |
T |
C |
2: 151,495,436 (GRCm39) |
T416A |
probably benign |
Het |
Ruvbl2 |
A |
T |
7: 45,074,596 (GRCm39) |
S181T |
probably benign |
Het |
Rxrb |
A |
G |
17: 34,253,049 (GRCm39) |
T109A |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,490,494 (GRCm39) |
Y3785F |
probably damaging |
Het |
Sec16a |
T |
C |
2: 26,320,113 (GRCm39) |
T1442A |
probably benign |
Het |
Slc6a14 |
T |
A |
X: 21,600,363 (GRCm39) |
|
probably benign |
Het |
Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
Tent5c |
A |
G |
3: 100,380,672 (GRCm39) |
V28A |
probably damaging |
Het |
Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
Trav13-2 |
T |
C |
14: 53,872,688 (GRCm39) |
F55L |
possibly damaging |
Het |
Tst |
A |
T |
15: 78,289,661 (GRCm39) |
S125T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,630,868 (GRCm39) |
T14179A |
probably benign |
Het |
Vps37b |
A |
G |
5: 124,148,850 (GRCm39) |
Y62H |
probably damaging |
Het |
|
Other mutations in Pgm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01068:Pgm2
|
APN |
5 |
64,265,139 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01112:Pgm2
|
APN |
5 |
64,260,225 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01634:Pgm2
|
APN |
5 |
64,258,317 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02513:Pgm2
|
APN |
5 |
64,260,289 (GRCm39) |
unclassified |
probably benign |
|
R0255:Pgm2
|
UTSW |
5 |
64,269,386 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0268:Pgm2
|
UTSW |
5 |
64,263,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Pgm2
|
UTSW |
5 |
64,267,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R0722:Pgm2
|
UTSW |
5 |
64,265,022 (GRCm39) |
nonsense |
probably null |
|
R0881:Pgm2
|
UTSW |
5 |
64,250,351 (GRCm39) |
missense |
unknown |
|
R0924:Pgm2
|
UTSW |
5 |
64,269,490 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0930:Pgm2
|
UTSW |
5 |
64,269,490 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1773:Pgm2
|
UTSW |
5 |
64,265,194 (GRCm39) |
critical splice donor site |
probably null |
|
R1777:Pgm2
|
UTSW |
5 |
64,285,125 (GRCm39) |
missense |
probably benign |
|
R2137:Pgm2
|
UTSW |
5 |
64,273,709 (GRCm39) |
missense |
probably benign |
|
R2244:Pgm2
|
UTSW |
5 |
64,264,045 (GRCm39) |
missense |
probably benign |
0.00 |
R3946:Pgm2
|
UTSW |
5 |
64,269,404 (GRCm39) |
missense |
probably benign |
|
R4301:Pgm2
|
UTSW |
5 |
64,261,140 (GRCm39) |
nonsense |
probably null |
|
R4601:Pgm2
|
UTSW |
5 |
64,265,070 (GRCm39) |
missense |
probably benign |
0.02 |
R4631:Pgm2
|
UTSW |
5 |
64,263,290 (GRCm39) |
splice site |
probably null |
|
R4795:Pgm2
|
UTSW |
5 |
64,261,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Pgm2
|
UTSW |
5 |
64,261,237 (GRCm39) |
missense |
probably benign |
|
R4893:Pgm2
|
UTSW |
5 |
64,263,283 (GRCm39) |
missense |
probably benign |
|
R4907:Pgm2
|
UTSW |
5 |
64,261,221 (GRCm39) |
missense |
probably benign |
0.00 |
R4915:Pgm2
|
UTSW |
5 |
64,258,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R5092:Pgm2
|
UTSW |
5 |
64,265,092 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5197:Pgm2
|
UTSW |
5 |
64,263,175 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5621:Pgm2
|
UTSW |
5 |
64,269,381 (GRCm39) |
nonsense |
probably null |
|
R6311:Pgm2
|
UTSW |
5 |
64,273,758 (GRCm39) |
missense |
probably benign |
0.05 |
R6651:Pgm2
|
UTSW |
5 |
64,269,437 (GRCm39) |
missense |
probably benign |
0.07 |
R6731:Pgm2
|
UTSW |
5 |
64,258,318 (GRCm39) |
missense |
probably benign |
0.27 |
R6885:Pgm2
|
UTSW |
5 |
64,261,221 (GRCm39) |
missense |
probably benign |
0.00 |
R6919:Pgm2
|
UTSW |
5 |
64,254,368 (GRCm39) |
missense |
probably benign |
0.11 |
R7211:Pgm2
|
UTSW |
5 |
64,263,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R7631:Pgm2
|
UTSW |
5 |
64,265,522 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7982:Pgm2
|
UTSW |
5 |
64,258,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Pgm2
|
UTSW |
5 |
64,269,425 (GRCm39) |
missense |
probably benign |
0.00 |
R8161:Pgm2
|
UTSW |
5 |
64,269,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R8181:Pgm2
|
UTSW |
5 |
64,269,467 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9110:Pgm2
|
UTSW |
5 |
64,261,159 (GRCm39) |
missense |
probably benign |
0.01 |
R9333:Pgm2
|
UTSW |
5 |
64,263,100 (GRCm39) |
missense |
probably benign |
|
R9580:Pgm2
|
UTSW |
5 |
64,265,092 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9673:Pgm2
|
UTSW |
5 |
64,273,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R9681:Pgm2
|
UTSW |
5 |
64,254,391 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-04-20 |