Incidental Mutation 'R2087:Pgm5'
ID |
231556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgm5
|
Ensembl Gene |
ENSMUSG00000041731 |
Gene Name |
phosphoglucomutase 5 |
Synonyms |
9530034F03Rik, aciculin |
MMRRC Submission |
040092-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R2087 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
24660380-24839219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24710927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 425
(Y425C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047666]
|
AlphaFold |
Q8BZF8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047666
AA Change: Y425C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000036025 Gene: ENSMUSG00000041731 AA Change: Y425C
Domain | Start | End | E-Value | Type |
Pfam:PGM_PMM_I
|
19 |
163 |
3.9e-31 |
PFAM |
Pfam:PGM_PMM_II
|
198 |
306 |
1.8e-15 |
PFAM |
Pfam:PGM_PMM_III
|
311 |
425 |
6.9e-31 |
PFAM |
SCOP:d3pmga4
|
427 |
567 |
5e-74 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133692
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
95% (57/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021P04Rik |
T |
A |
19: 24,042,364 (GRCm39) |
|
noncoding transcript |
Het |
Adamts8 |
G |
A |
9: 30,873,408 (GRCm39) |
R871Q |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,583,827 (GRCm39) |
L310S |
probably damaging |
Het |
Atp2a3 |
A |
G |
11: 72,871,274 (GRCm39) |
T592A |
probably damaging |
Het |
Bpifb6 |
A |
G |
2: 153,747,998 (GRCm39) |
D219G |
possibly damaging |
Het |
Catsper4 |
T |
C |
4: 133,953,916 (GRCm39) |
N81S |
probably damaging |
Het |
Ccdc14 |
T |
C |
16: 34,516,015 (GRCm39) |
|
probably null |
Het |
Ces1c |
A |
C |
8: 93,834,230 (GRCm39) |
N353K |
probably benign |
Het |
Chrna6 |
T |
A |
8: 27,897,155 (GRCm39) |
M241L |
probably benign |
Het |
Chtf8 |
T |
A |
8: 107,612,568 (GRCm39) |
R124* |
probably null |
Het |
Cpt1b |
A |
G |
15: 89,306,411 (GRCm39) |
V296A |
probably benign |
Het |
Cryl1 |
G |
A |
14: 57,513,402 (GRCm39) |
S273L |
possibly damaging |
Het |
Ctps1 |
T |
C |
4: 120,420,012 (GRCm39) |
D134G |
probably benign |
Het |
Cyp4f18 |
T |
C |
8: 72,754,832 (GRCm39) |
M138V |
probably benign |
Het |
Dnajb12 |
A |
G |
10: 59,726,667 (GRCm39) |
K107R |
possibly damaging |
Het |
Epha1 |
C |
T |
6: 42,340,502 (GRCm39) |
D590N |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,505,703 (GRCm39) |
V855A |
probably benign |
Het |
Ganc |
A |
G |
2: 120,287,738 (GRCm39) |
Y822C |
probably damaging |
Het |
Hook2 |
A |
G |
8: 85,729,320 (GRCm39) |
D622G |
probably damaging |
Het |
Kcnj8 |
T |
A |
6: 142,511,422 (GRCm39) |
N395I |
probably benign |
Het |
Kdm4b |
T |
C |
17: 56,696,564 (GRCm39) |
S427P |
possibly damaging |
Het |
Krt12 |
A |
G |
11: 99,309,459 (GRCm39) |
F267S |
probably damaging |
Het |
Lrrn2 |
T |
G |
1: 132,865,489 (GRCm39) |
F185V |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,006,963 (GRCm39) |
S764P |
probably benign |
Het |
Mfsd14b |
C |
G |
13: 65,215,796 (GRCm39) |
G386R |
probably damaging |
Het |
Mrm2 |
A |
G |
5: 140,314,155 (GRCm39) |
S227P |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,833,250 (GRCm39) |
N285S |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,518,557 (GRCm39) |
T1661A |
probably benign |
Het |
Ncoa6 |
G |
A |
2: 155,248,079 (GRCm39) |
R1742* |
probably null |
Het |
Nln |
T |
A |
13: 104,173,877 (GRCm39) |
H548L |
probably damaging |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Or2r3 |
A |
T |
6: 42,448,985 (GRCm39) |
N42K |
probably damaging |
Het |
Or56b34 |
T |
A |
7: 104,937,393 (GRCm39) |
I31N |
probably benign |
Het |
Pld2 |
A |
G |
11: 70,433,786 (GRCm39) |
D242G |
probably damaging |
Het |
Plekhm1 |
A |
G |
11: 103,287,851 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
T |
C |
13: 67,124,881 (GRCm39) |
|
probably benign |
Het |
Pyroxd2 |
G |
T |
19: 42,722,209 (GRCm39) |
L415I |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,522,075 (GRCm39) |
T291A |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,517,692 (GRCm39) |
I238T |
probably benign |
Het |
Rp1 |
G |
A |
1: 4,418,575 (GRCm39) |
H846Y |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,374,079 (GRCm39) |
|
probably null |
Het |
Scaf4 |
T |
C |
16: 90,049,313 (GRCm39) |
D258G |
unknown |
Het |
Ska1 |
A |
T |
18: 74,339,920 (GRCm39) |
C9S |
probably benign |
Het |
Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
Slc43a1 |
G |
A |
2: 84,680,175 (GRCm39) |
R107Q |
probably damaging |
Het |
Slc44a3 |
T |
A |
3: 121,319,319 (GRCm39) |
N141Y |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,625,922 (GRCm39) |
D613E |
probably benign |
Het |
Spata22 |
A |
T |
11: 73,231,079 (GRCm39) |
Y111F |
probably benign |
Het |
Tchh |
C |
A |
3: 93,351,225 (GRCm39) |
R222S |
unknown |
Het |
Tekt3 |
A |
G |
11: 62,985,523 (GRCm39) |
D443G |
possibly damaging |
Het |
Tns2 |
A |
T |
15: 102,015,554 (GRCm39) |
Q144L |
possibly damaging |
Het |
Troap |
T |
C |
15: 98,976,698 (GRCm39) |
V274A |
possibly damaging |
Het |
Ugt1a8 |
A |
G |
1: 88,015,995 (GRCm39) |
Y136C |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,718,458 (GRCm39) |
M604L |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,597,639 (GRCm39) |
W1060R |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,042,926 (GRCm39) |
S1942P |
probably damaging |
Het |
Wdr90 |
G |
A |
17: 26,065,577 (GRCm39) |
T1596I |
probably damaging |
Het |
Zc3h4 |
A |
G |
7: 16,150,865 (GRCm39) |
E69G |
possibly damaging |
Het |
|
Other mutations in Pgm5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01310:Pgm5
|
APN |
19 |
24,812,130 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01318:Pgm5
|
APN |
19 |
24,793,842 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01372:Pgm5
|
APN |
19 |
24,710,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01541:Pgm5
|
APN |
19 |
24,793,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01648:Pgm5
|
APN |
19 |
24,801,715 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02049:Pgm5
|
APN |
19 |
24,801,782 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02827:Pgm5
|
APN |
19 |
24,686,659 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02975:Pgm5
|
APN |
19 |
24,812,212 (GRCm39) |
missense |
probably benign |
0.00 |
3-1:Pgm5
|
UTSW |
19 |
24,705,152 (GRCm39) |
missense |
probably benign |
0.02 |
P0047:Pgm5
|
UTSW |
19 |
24,793,785 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4466001:Pgm5
|
UTSW |
19 |
24,801,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Pgm5
|
UTSW |
19 |
24,710,904 (GRCm39) |
critical splice donor site |
probably null |
|
R0047:Pgm5
|
UTSW |
19 |
24,661,920 (GRCm39) |
missense |
probably damaging |
0.98 |
R0180:Pgm5
|
UTSW |
19 |
24,793,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R0317:Pgm5
|
UTSW |
19 |
24,801,763 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0478:Pgm5
|
UTSW |
19 |
24,812,233 (GRCm39) |
missense |
possibly damaging |
0.45 |
R1587:Pgm5
|
UTSW |
19 |
24,793,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R2017:Pgm5
|
UTSW |
19 |
24,801,676 (GRCm39) |
missense |
probably benign |
0.06 |
R2152:Pgm5
|
UTSW |
19 |
24,812,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R2169:Pgm5
|
UTSW |
19 |
24,812,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R3851:Pgm5
|
UTSW |
19 |
24,797,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R4034:Pgm5
|
UTSW |
19 |
24,839,021 (GRCm39) |
missense |
probably damaging |
0.96 |
R4489:Pgm5
|
UTSW |
19 |
24,793,809 (GRCm39) |
missense |
probably benign |
0.12 |
R4630:Pgm5
|
UTSW |
19 |
24,812,110 (GRCm39) |
nonsense |
probably null |
|
R4736:Pgm5
|
UTSW |
19 |
24,812,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Pgm5
|
UTSW |
19 |
24,797,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R5414:Pgm5
|
UTSW |
19 |
24,686,689 (GRCm39) |
missense |
probably damaging |
0.99 |
R5558:Pgm5
|
UTSW |
19 |
24,801,815 (GRCm39) |
splice site |
probably null |
|
R5617:Pgm5
|
UTSW |
19 |
24,727,765 (GRCm39) |
nonsense |
probably null |
|
R6142:Pgm5
|
UTSW |
19 |
24,801,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R6648:Pgm5
|
UTSW |
19 |
24,838,996 (GRCm39) |
missense |
probably benign |
0.02 |
R6821:Pgm5
|
UTSW |
19 |
24,839,011 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7360:Pgm5
|
UTSW |
19 |
24,812,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R7421:Pgm5
|
UTSW |
19 |
24,686,663 (GRCm39) |
missense |
probably benign |
0.03 |
R7590:Pgm5
|
UTSW |
19 |
24,686,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R7610:Pgm5
|
UTSW |
19 |
24,812,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R7685:Pgm5
|
UTSW |
19 |
24,705,215 (GRCm39) |
missense |
probably benign |
0.45 |
R8254:Pgm5
|
UTSW |
19 |
24,705,089 (GRCm39) |
missense |
probably benign |
0.18 |
R8405:Pgm5
|
UTSW |
19 |
24,705,106 (GRCm39) |
missense |
probably benign |
0.01 |
R8516:Pgm5
|
UTSW |
19 |
24,793,074 (GRCm39) |
missense |
probably benign |
|
R8755:Pgm5
|
UTSW |
19 |
24,812,212 (GRCm39) |
missense |
probably damaging |
0.98 |
R9236:Pgm5
|
UTSW |
19 |
24,839,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACACACTTTCAAGCAGCC -3'
(R):5'- GCATAGTGGGTAAATATATACAGCC -3'
Sequencing Primer
(F):5'- CAGCCCCAGCCTTTCAG -3'
(R):5'- CTCCAAGTTGCTAAATGGTCTTG -3'
|
Posted On |
2014-09-18 |