Incidental Mutation 'R0930:Pgm2'
| ID |
80732 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R0930 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
64250293-64285694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64269490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 526
(I526F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087324]
|
| AlphaFold |
Q7TSV4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087324
AA Change: I526F
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
AA Change: I526F
| 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 |
unknown
Transcript: ENSMUST00000197577
AA Change: I16F
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199093
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
G |
T |
17: 84,990,705 (GRCm39) |
V16L |
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
| Agpat4 |
A |
T |
17: 12,417,723 (GRCm39) |
E88V |
probably damaging |
Het |
| Ahcyl2 |
A |
C |
6: 29,870,627 (GRCm39) |
|
probably null |
Het |
| Ankrd2 |
T |
A |
19: 42,032,292 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Caprin2 |
T |
C |
6: 148,785,009 (GRCm39) |
|
probably null |
Het |
| Cars1 |
T |
A |
7: 143,124,307 (GRCm39) |
H373L |
probably damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,751,618 (GRCm39) |
G316V |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,801 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
| Dact1 |
A |
G |
12: 71,365,234 (GRCm39) |
R672G |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,905,262 (GRCm39) |
F991L |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Exosc4 |
A |
G |
15: 76,211,734 (GRCm39) |
I14M |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,021,398 (GRCm39) |
R180* |
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
| Fyb1 |
A |
T |
15: 6,668,309 (GRCm39) |
I501F |
probably damaging |
Het |
| Hdac5 |
G |
T |
11: 102,095,472 (GRCm39) |
P383Q |
probably benign |
Het |
| Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
| Krt36 |
A |
G |
11: 99,994,225 (GRCm39) |
F284S |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
| Lsamp |
G |
A |
16: 41,709,327 (GRCm39) |
G86S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,196,824 (GRCm39) |
E1819G |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
| Nphp4 |
T |
G |
4: 152,622,512 (GRCm39) |
L599R |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,667 (GRCm39) |
I301V |
probably benign |
Het |
| Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
| Os9 |
C |
T |
10: 126,932,924 (GRCm39) |
R547Q |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
| Plekho2 |
T |
C |
9: 65,464,105 (GRCm39) |
D248G |
possibly damaging |
Het |
| Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,729,271 (GRCm39) |
I1102T |
probably benign |
Het |
| Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,367,171 (GRCm39) |
T453A |
probably benign |
Het |
| Sod1 |
A |
G |
16: 90,022,071 (GRCm39) |
D93G |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
| Stxbp4 |
A |
C |
11: 90,512,526 (GRCm39) |
M1R |
probably null |
Het |
| Tbc1d7 |
A |
T |
13: 43,318,812 (GRCm39) |
Y108* |
probably null |
Het |
| Ticam1 |
A |
T |
17: 56,577,226 (GRCm39) |
V623D |
unknown |
Het |
| Ticam1 |
A |
G |
17: 56,578,687 (GRCm39) |
L136P |
probably damaging |
Het |
| Tjap1 |
A |
C |
17: 46,569,455 (GRCm39) |
W512G |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Wdr45b |
A |
T |
11: 121,221,040 (GRCm39) |
F213I |
probably damaging |
Het |
| Xdh |
A |
C |
17: 74,230,077 (GRCm39) |
W285G |
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
probably null |
Het |
|
| Other mutations in Pgm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Pgm2
|
APN |
5 |
64,265,612 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACATCTTGCCATACATTCTGC -3'
(R):5'- AAAAGGCTTCTCCTCCACCTGGAC -3'
Sequencing Primer
(F):5'- CAGAATTTTTGTGGCTCATTTTGC -3'
(R):5'- gcaagcagcctaccccc -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation