Incidental Mutation 'R2095:Pgm3'
| ID |
232052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgm3
|
| Ensembl Gene |
ENSMUSG00000056131 |
| Gene Name |
phosphoglucomutase 3 |
| Synonyms |
Pgm-3, 2810473H05Rik, GlcNAc-P mutase |
| MMRRC Submission |
040099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R2095 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86436430-86453895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86438394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 423
(T423A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034987]
[ENSMUST00000070064]
[ENSMUST00000072585]
[ENSMUST00000185919]
[ENSMUST00000190957]
[ENSMUST00000189817]
|
| AlphaFold |
Q9CYR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034987
|
| SMART Domains |
Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dopey_N
|
11 |
300 |
1e-117 |
PFAM |
|
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1281 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1335 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1362 |
1373 |
N/A |
INTRINSIC |
|
low complexity region
|
1575 |
1589 |
N/A |
INTRINSIC |
|
low complexity region
|
2217 |
2227 |
N/A |
INTRINSIC |
|
low complexity region
|
2351 |
2362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070064
AA Change: T464A
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: T464A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGM_PMM_I
|
44 |
102 |
6.5e-9 |
PFAM |
|
Pfam:PGM_PMM_I
|
96 |
174 |
4.3e-9 |
PFAM |
|
Pfam:PGM_PMM_IV
|
443 |
528 |
8.9e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072585
AA Change: T423A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: T423A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGM_PMM_I
|
44 |
102 |
2.5e-10 |
PFAM |
|
Pfam:PGM_PMM_I
|
95 |
175 |
3.6e-11 |
PFAM |
|
Pfam:PGM_PMM_II
|
181 |
291 |
9.4e-14 |
PFAM |
|
SCOP:d3pmga3
|
298 |
374 |
1e-8 |
SMART |
|
Pfam:PGM_PMM_IV
|
383 |
487 |
8.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185919
|
| SMART Domains |
Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dopey_N
|
10 |
306 |
1.9e-106 |
PFAM |
|
low complexity region
|
629 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1082 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1116 |
N/A |
INTRINSIC |
|
low complexity region
|
1266 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1316 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1342 |
N/A |
INTRINSIC |
|
low complexity region
|
1360 |
1371 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189564
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190957
|
| SMART Domains |
Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dopey_N
|
10 |
305 |
1.3e-108 |
PFAM |
|
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1281 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1335 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1362 |
1373 |
N/A |
INTRINSIC |
|
low complexity region
|
1575 |
1589 |
N/A |
INTRINSIC |
|
low complexity region
|
2217 |
2227 |
N/A |
INTRINSIC |
|
low complexity region
|
2351 |
2362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189817
|
| Meta Mutation Damage Score |
0.3717 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility, anemia, leukopenia, thrombocytopenia, abnormal pancreatic and salivary gland morphology, and splenomegaly. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
C |
A |
4: 122,596,151 (GRCm39) |
Y127* |
probably null |
Het |
| Adam33 |
C |
T |
2: 130,895,629 (GRCm39) |
G562D |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,988,557 (GRCm39) |
F177L |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,530,470 (GRCm39) |
T1439A |
probably damaging |
Het |
| Arl5c |
C |
T |
11: 97,884,277 (GRCm39) |
E105K |
probably damaging |
Het |
| Armc3 |
T |
A |
2: 19,293,740 (GRCm39) |
D510E |
possibly damaging |
Het |
| Bbx |
T |
C |
16: 50,045,052 (GRCm39) |
E395G |
possibly damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,404,364 (GRCm39) |
E1087K |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,043,529 (GRCm39) |
N113S |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 123,361,727 (GRCm39) |
S432P |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,377 (GRCm39) |
V140A |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,781 (GRCm39) |
D615G |
probably damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,744 (GRCm39) |
D190E |
probably benign |
Het |
| Clec9a |
T |
C |
6: 129,393,321 (GRCm39) |
L115P |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,552,550 (GRCm39) |
R532* |
probably null |
Het |
| Cntnap5a |
T |
A |
1: 116,369,990 (GRCm39) |
L869Q |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,305,944 (GRCm39) |
K143* |
probably null |
Het |
| Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
| Dtna |
T |
A |
18: 23,702,805 (GRCm39) |
L112Q |
probably damaging |
Het |
| Fnta |
G |
A |
8: 26,489,907 (GRCm39) |
Q303* |
probably null |
Het |
| Frs2 |
T |
C |
10: 116,910,507 (GRCm39) |
E285G |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,781,455 (GRCm39) |
I293V |
probably damaging |
Het |
| Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
| Gnl2 |
C |
T |
4: 124,928,111 (GRCm39) |
R49C |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,536,972 (GRCm39) |
Y275N |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,189,289 (GRCm39) |
E1231G |
probably damaging |
Het |
| Kctd11 |
T |
A |
11: 69,770,402 (GRCm39) |
D212V |
probably damaging |
Het |
| Klf3 |
T |
A |
5: 64,979,245 (GRCm39) |
M29K |
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,093,850 (GRCm39) |
S151P |
probably benign |
Het |
| Lsm14b |
A |
T |
2: 179,673,580 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,150,974 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
G |
A |
3: 104,708,847 (GRCm39) |
R389C |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,295,661 (GRCm39) |
M1071V |
possibly damaging |
Het |
| Myh8 |
G |
T |
11: 67,177,050 (GRCm39) |
A401S |
probably benign |
Het |
| Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,984,410 (GRCm39) |
|
probably null |
Het |
| Or1e22 |
T |
A |
11: 73,377,420 (GRCm39) |
T77S |
probably damaging |
Het |
| Or2l13 |
T |
C |
16: 19,305,681 (GRCm39) |
I31T |
probably benign |
Het |
| Or4c11c |
T |
C |
2: 88,661,634 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,557 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,375 (GRCm39) |
D388E |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,154 (GRCm39) |
T91S |
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,007,546 (GRCm39) |
|
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,376 (GRCm39) |
L79P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,954,167 (GRCm39) |
T383A |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,071,764 (GRCm39) |
M2248K |
possibly damaging |
Het |
| Stub1 |
A |
G |
17: 26,049,864 (GRCm39) |
Y304H |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
| Tbc1d1 |
C |
T |
5: 64,473,844 (GRCm39) |
S660L |
probably benign |
Het |
| Tcea2 |
C |
A |
2: 181,328,725 (GRCm39) |
F259L |
probably damaging |
Het |
| Tcp11l1 |
T |
A |
2: 104,512,185 (GRCm39) |
K482N |
probably damaging |
Het |
| Trpv6 |
C |
T |
6: 41,598,690 (GRCm39) |
R645Q |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,748,125 (GRCm39) |
S30T |
probably benign |
Het |
| Ubap2 |
C |
G |
4: 41,206,901 (GRCm39) |
V492L |
possibly damaging |
Het |
| Ube3c |
T |
C |
5: 29,873,038 (GRCm39) |
F1026S |
probably damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,956,487 (GRCm39) |
D45A |
possibly damaging |
Het |
| Zfp738 |
G |
T |
13: 67,819,422 (GRCm39) |
L180I |
probably damaging |
Het |
|
| Other mutations in Pgm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Pgm3
|
APN |
9 |
86,443,932 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01865:Pgm3
|
APN |
9 |
86,437,371 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02800:Pgm3
|
APN |
9 |
86,437,431 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6592_Pgm3_648
|
UTSW |
9 |
86,441,496 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7274_Pgm3_459
|
UTSW |
9 |
86,444,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Pgm3
|
UTSW |
9 |
86,446,726 (GRCm39) |
splice site |
probably benign |
|
|
R0038:Pgm3
|
UTSW |
9 |
86,446,726 (GRCm39) |
splice site |
probably benign |
|
|
R0266:Pgm3
|
UTSW |
9 |
86,449,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0536:Pgm3
|
UTSW |
9 |
86,449,589 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0617:Pgm3
|
UTSW |
9 |
86,438,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1499:Pgm3
|
UTSW |
9 |
86,452,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1780:Pgm3
|
UTSW |
9 |
86,438,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Pgm3
|
UTSW |
9 |
86,451,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1882:Pgm3
|
UTSW |
9 |
86,447,743 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1920:Pgm3
|
UTSW |
9 |
86,440,531 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2378:Pgm3
|
UTSW |
9 |
86,444,720 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2679:Pgm3
|
UTSW |
9 |
86,451,374 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3021:Pgm3
|
UTSW |
9 |
86,449,588 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3686:Pgm3
|
UTSW |
9 |
86,441,563 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4490:Pgm3
|
UTSW |
9 |
86,443,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Pgm3
|
UTSW |
9 |
86,440,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Pgm3
|
UTSW |
9 |
86,440,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4718:Pgm3
|
UTSW |
9 |
86,452,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Pgm3
|
UTSW |
9 |
86,451,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Pgm3
|
UTSW |
9 |
86,441,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Pgm3
|
UTSW |
9 |
86,444,732 (GRCm39) |
missense |
probably benign |
|
|
R4990:Pgm3
|
UTSW |
9 |
86,440,465 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5357:Pgm3
|
UTSW |
9 |
86,438,310 (GRCm39) |
nonsense |
probably null |
|
|
R5870:Pgm3
|
UTSW |
9 |
86,452,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6592:Pgm3
|
UTSW |
9 |
86,441,496 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6807:Pgm3
|
UTSW |
9 |
86,438,555 (GRCm39) |
splice site |
probably null |
|
|
R7152:Pgm3
|
UTSW |
9 |
86,449,593 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7274:Pgm3
|
UTSW |
9 |
86,444,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Pgm3
|
UTSW |
9 |
86,446,828 (GRCm39) |
missense |
probably benign |
|
|
R8195:Pgm3
|
UTSW |
9 |
86,452,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9115:Pgm3
|
UTSW |
9 |
86,447,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9224:Pgm3
|
UTSW |
9 |
86,438,415 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9336:Pgm3
|
UTSW |
9 |
86,437,413 (GRCm39) |
missense |
probably benign |
|
|
R9422:Pgm3
|
UTSW |
9 |
86,443,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9705:Pgm3
|
UTSW |
9 |
86,437,414 (GRCm39) |
missense |
probably benign |
|
|
X0028:Pgm3
|
UTSW |
9 |
86,451,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pgm3
|
UTSW |
9 |
86,446,760 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAGCCACAGTGAGATCC -3'
(R):5'- AGCCCTGAGACAGTATGTGG -3'
Sequencing Primer
(F):5'- ACAAATAGTGTTTTCTCCTCGCCTG -3'
(R):5'- TTACATGGCACCCAGTAGTAGTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation