Incidental Mutation 'R6731:Pgm2'
ID |
530054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgm2
|
Ensembl Gene |
ENSMUSG00000029171 |
Gene Name |
phosphoglucomutase 2 |
Synonyms |
Pgm-1, 3230402E02Rik, Pgm1 |
MMRRC Submission |
044849-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6731 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
64250293-64285694 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64258318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 101
(F101S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087324]
|
AlphaFold |
Q7TSV4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087324
AA Change: F101S
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000084582 Gene: ENSMUSG00000029171 AA Change: F101S
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: ENSMUST00000175062
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199093
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
Validation Efficiency |
98% (47/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta1 |
G |
A |
8: 124,619,956 (GRCm39) |
T128I |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,988,926 (GRCm39) |
D3403E |
possibly damaging |
Het |
Aldoc |
T |
A |
11: 78,216,918 (GRCm39) |
D319E |
probably benign |
Het |
Ank3 |
T |
A |
10: 69,849,858 (GRCm39) |
D1108E |
possibly damaging |
Het |
Ankrd7 |
G |
A |
6: 18,866,653 (GRCm39) |
G58S |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,796 (GRCm39) |
Y359F |
probably damaging |
Het |
B3gnt2 |
G |
T |
11: 22,786,888 (GRCm39) |
S100* |
probably null |
Het |
Cd46 |
T |
C |
1: 194,765,775 (GRCm39) |
|
probably null |
Het |
Chst5 |
G |
T |
8: 112,616,676 (GRCm39) |
R315S |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,200,030 (GRCm39) |
S393P |
probably damaging |
Het |
Dis3l |
T |
C |
9: 64,217,720 (GRCm39) |
|
probably null |
Het |
Fgg |
T |
C |
3: 82,920,208 (GRCm39) |
F329S |
probably damaging |
Het |
Hsp90b1 |
T |
C |
10: 86,537,769 (GRCm39) |
T179A |
probably benign |
Het |
Kat2a |
A |
T |
11: 100,599,099 (GRCm39) |
M559K |
probably damaging |
Het |
Klhl41 |
T |
C |
2: 69,505,044 (GRCm39) |
I449T |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,830,367 (GRCm39) |
I1880N |
probably benign |
Het |
Lcp1 |
A |
G |
14: 75,443,629 (GRCm39) |
D215G |
probably damaging |
Het |
Lrch3 |
A |
G |
16: 32,770,790 (GRCm39) |
T131A |
probably damaging |
Het |
Mroh6 |
T |
C |
15: 75,760,341 (GRCm39) |
T78A |
probably benign |
Het |
Naa15 |
T |
G |
3: 51,363,294 (GRCm39) |
V326G |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,837,346 (GRCm39) |
Q6L |
probably benign |
Het |
Nipbl |
T |
A |
15: 8,352,074 (GRCm39) |
I1863L |
probably damaging |
Het |
Obi1 |
C |
T |
14: 104,716,910 (GRCm39) |
V488I |
probably benign |
Het |
Os9 |
C |
T |
10: 126,934,412 (GRCm39) |
G408D |
probably benign |
Het |
Pcbp2 |
T |
C |
15: 102,397,225 (GRCm39) |
S237P |
probably damaging |
Het |
Pcdhb10 |
G |
A |
18: 37,546,529 (GRCm39) |
R535H |
probably benign |
Het |
Pex5l |
A |
T |
3: 33,012,947 (GRCm39) |
I320K |
probably damaging |
Het |
Phf8-ps |
A |
G |
17: 33,285,200 (GRCm39) |
V534A |
probably benign |
Het |
Poc1b |
T |
A |
10: 98,988,733 (GRCm39) |
D207E |
probably null |
Het |
Pou6f1 |
T |
C |
15: 100,477,764 (GRCm39) |
I460V |
possibly damaging |
Het |
Rnf17 |
A |
T |
14: 56,761,807 (GRCm39) |
Q1623H |
possibly damaging |
Het |
Rpap1 |
T |
C |
2: 119,608,777 (GRCm39) |
N195S |
probably benign |
Het |
Sacs |
C |
A |
14: 61,418,149 (GRCm39) |
|
probably null |
Het |
Scube2 |
G |
A |
7: 109,409,944 (GRCm39) |
T643M |
probably damaging |
Het |
Sele |
C |
T |
1: 163,881,242 (GRCm39) |
L481F |
probably damaging |
Het |
Stk32a |
A |
G |
18: 43,438,143 (GRCm39) |
Y214C |
probably damaging |
Het |
Tex44 |
T |
A |
1: 86,354,207 (GRCm39) |
S39T |
probably benign |
Het |
Tmem135 |
A |
T |
7: 88,893,172 (GRCm39) |
M140K |
possibly damaging |
Het |
Tox2 |
A |
G |
2: 163,162,297 (GRCm39) |
Y354C |
probably damaging |
Het |
Trim21 |
A |
T |
7: 102,208,419 (GRCm39) |
F433L |
probably damaging |
Het |
Trim24 |
T |
C |
6: 37,920,420 (GRCm39) |
F406L |
probably damaging |
Het |
Ubr1 |
G |
C |
2: 120,786,121 (GRCm39) |
H166Q |
probably null |
Het |
Wnt16 |
T |
A |
6: 22,297,891 (GRCm39) |
Y252* |
probably null |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp141 |
T |
C |
7: 42,138,924 (GRCm39) |
D36G |
probably damaging |
Het |
Zfp729a |
C |
T |
13: 67,768,265 (GRCm39) |
V655I |
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,611,074 (GRCm39) |
V217E |
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 |
|
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 |
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'- ACCATTCAGTCTGCACAATCACTG -3'
(R):5'- GCCTTAACCCATTTCTTTTAAGAGC -3'
Sequencing Primer
(F):5'- GGTCCCCAGTCTTCTATGCCAAAG -3'
(R):5'- CTAGAGGGGATCCAATATCTCTGGC -3'
|
Posted On |
2018-08-01 |