Incidental Mutation 'R2244:Pgm2'
| ID |
240600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm2
|
| Ensembl Gene |
ENSMUSG00000029171 |
| Gene Name |
phosphoglucomutase 2 |
| Synonyms |
Pgm-1, 3230402E02Rik, Pgm1 |
| MMRRC Submission |
040244-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2244 (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 G
at 64264045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 343
(D343G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087324]
|
| AlphaFold |
Q7TSV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087324
AA Change: D343G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
AA Change: D343G
| 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: ENSMUST00000199093
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
G |
7: 132,484,940 (GRCm39) |
T328A |
probably benign |
Het |
| Aen |
T |
C |
7: 78,557,045 (GRCm39) |
Y156H |
probably damaging |
Het |
| Aip |
T |
C |
19: 4,164,796 (GRCm39) |
D263G |
probably benign |
Het |
| Car1 |
T |
A |
3: 14,835,912 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,889,775 (GRCm39) |
F1357Y |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,564 (GRCm39) |
E482G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,117 (GRCm39) |
T398A |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,449 (GRCm39) |
F240S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,575,602 (GRCm39) |
R208* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,650,659 (GRCm39) |
N928S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,257 (GRCm39) |
D640G |
probably benign |
Het |
| Mfsd4a |
T |
A |
1: 131,956,243 (GRCm39) |
E507V |
probably benign |
Het |
| Nyap1 |
T |
C |
5: 137,733,576 (GRCm39) |
T486A |
probably damaging |
Het |
| Or11g2 |
G |
A |
14: 50,856,114 (GRCm39) |
C145Y |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,751,723 (GRCm39) |
T238A |
probably benign |
Het |
| Rbpjl |
G |
T |
2: 164,245,137 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Selp |
G |
T |
1: 163,964,855 (GRCm39) |
E506* |
probably null |
Het |
| Sgo2a |
T |
C |
1: 58,056,213 (GRCm39) |
I799T |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,003,087 (GRCm39) |
T187A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,755,689 (GRCm39) |
L103H |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Usp20 |
T |
C |
2: 30,900,343 (GRCm39) |
S286P |
possibly damaging |
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 |
|
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 |
|
|
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'- AAACCCCTCTGCCTTTTGGG -3'
(R):5'- TACACACTCAAGGATATGCTCC -3'
Sequencing Primer
(F):5'- CCCTCTGCCTTTTGGGGAAAAG -3'
(R):5'- GCCCTTAGCATCAGCAAATTGTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation