Incidental Mutation 'R2378:Pgm3'
| ID | 248351 |
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| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Pgm3
|
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| Ensembl Gene |
ENSMUSG00000056131 |
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| Gene Name | phosphoglucomutase 3 |
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| Synonyms | Pgm-3, GlcNAc-P mutase, 2810473H05Rik |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably essential (E-score: 0.947)
|
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| Stock # | R2378 (G1)
|
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| Quality Score | 225 |
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| Status |
Not validated
|
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| Chromosome | 9 |
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| Chromosomal Location | 86554377-86571842 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
A to T
at 86562667 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Cysteine to Serine
at position 272
(C272S)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000072390
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070064]
[ENSMUST00000072585]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000070064
AA Change: C272S
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
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| SMART Domains |
Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: C272S
| 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 |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072585
AA Change: C272S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
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| SMART Domains |
Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: C272S
| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186193
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187251
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190924
|
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| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.1%
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AK157302 |
T |
C |
13: 21,495,562 |
I86T |
possibly damaging |
Het |
| Akr1cl |
A |
T |
1: 65,021,988 |
M124K |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,254,318 |
L745P |
possibly damaging |
Het |
| B3gnt9 |
G |
A |
8: 105,254,484 |
R91C |
probably damaging |
Het |
| Capg |
C |
T |
6: 72,555,491 |
P13L |
probably benign |
Het |
| Eif3c |
C |
T |
7: 126,552,325 |
R609H |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,218,243 |
H152R |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,080,176 |
D580G |
probably benign |
Het |
| Gm884 |
A |
G |
11: 103,619,711 |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,327,721 |
Y97H |
probably damaging |
Het |
| Ip6k2 |
A |
G |
9: 108,796,301 |
|
probably null |
Het |
| Itih2 |
T |
A |
2: 10,094,887 |
D907V |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,863,477 |
C732R |
probably damaging |
Het |
| Mtss1l |
T |
C |
8: 110,738,349 |
F474L |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,630,808 |
E1175G |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,563,473 |
I303N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,875,942 |
R137C |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 24,886,950 |
|
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 116,129,950 |
T132I |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 43,999,765 |
E223V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,889,450 |
|
probably benign |
Het |
| Vmn2r102 |
T |
G |
17: 19,694,668 |
L832V |
probably damaging |
Het |
|
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| Other mutations in Pgm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Pgm3
|
APN |
9 |
86561879 |
missense |
probably damaging |
0.96 |
|
IGL01865:Pgm3
|
APN |
9 |
86555318 |
missense |
possibly damaging |
0.85 |
|
IGL02800:Pgm3
|
APN |
9 |
86555378 |
missense |
possibly damaging |
0.94 |
|
R6592_Pgm3_648
|
UTSW |
9 |
86559443 |
missense |
possibly damaging |
0.87 |
|
R0038:Pgm3
|
UTSW |
9 |
86564673 |
splice site |
probably benign |
|
|
R0038:Pgm3
|
UTSW |
9 |
86564673 |
splice site |
probably benign |
|
|
R0266:Pgm3
|
UTSW |
9 |
86567533 |
missense |
probably benign |
0.00 |
|
R0536:Pgm3
|
UTSW |
9 |
86567536 |
missense |
possibly damaging |
0.83 |
|
R0617:Pgm3
|
UTSW |
9 |
86556190 |
critical splice donor site |
probably null |
|
|
R1499:Pgm3
|
UTSW |
9 |
86570287 |
missense |
probably benign |
0.01 |
|
R1780:Pgm3
|
UTSW |
9 |
86556204 |
missense |
probably damaging |
1.00 |
|
R1838:Pgm3
|
UTSW |
9 |
86569233 |
missense |
probably benign |
0.03 |
|
R1882:Pgm3
|
UTSW |
9 |
86565690 |
missense |
possibly damaging |
0.72 |
|
R1920:Pgm3
|
UTSW |
9 |
86558478 |
missense |
possibly damaging |
0.47 |
|
R2095:Pgm3
|
UTSW |
9 |
86556341 |
missense |
probably damaging |
0.99 |
|
R2679:Pgm3
|
UTSW |
9 |
86569321 |
missense |
probably benign |
0.32 |
|
R3021:Pgm3
|
UTSW |
9 |
86567535 |
missense |
possibly damaging |
0.95 |
|
R3686:Pgm3
|
UTSW |
9 |
86559510 |
missense |
probably benign |
0.37 |
|
R4490:Pgm3
|
UTSW |
9 |
86561840 |
missense |
probably damaging |
1.00 |
|
R4651:Pgm3
|
UTSW |
9 |
86558470 |
missense |
probably benign |
0.01 |
|
R4652:Pgm3
|
UTSW |
9 |
86558470 |
missense |
probably benign |
0.01 |
|
R4718:Pgm3
|
UTSW |
9 |
86570395 |
missense |
probably benign |
0.00 |
|
R4883:Pgm3
|
UTSW |
9 |
86569325 |
missense |
probably damaging |
1.00 |
|
R4940:Pgm3
|
UTSW |
9 |
86559476 |
missense |
probably damaging |
1.00 |
|
R4973:Pgm3
|
UTSW |
9 |
86562679 |
missense |
probably benign |
|
|
R4990:Pgm3
|
UTSW |
9 |
86558412 |
missense |
probably damaging |
0.97 |
|
R5357:Pgm3
|
UTSW |
9 |
86556257 |
nonsense |
probably null |
|
|
R5870:Pgm3
|
UTSW |
9 |
86570361 |
missense |
probably damaging |
0.99 |
|
R6592:Pgm3
|
UTSW |
9 |
86559443 |
missense |
possibly damaging |
0.87 |
|
R6807:Pgm3
|
UTSW |
9 |
86556502 |
splice site |
probably null |
|
|
R7152:Pgm3
|
UTSW |
9 |
86567540 |
missense |
probably benign |
0.13 |
|
R7274:Pgm3
|
UTSW |
9 |
86562597 |
missense |
probably damaging |
1.00 |
|
R8112:Pgm3
|
UTSW |
9 |
86564775 |
missense |
probably benign |
|
|
R8195:Pgm3
|
UTSW |
9 |
86570321 |
missense |
probably damaging |
1.00 |
|
X0028:Pgm3
|
UTSW |
9 |
86569355 |
missense |
probably damaging |
1.00 |
|
Z1088:Pgm3
|
UTSW |
9 |
86564707 |
missense |
probably damaging |
0.96 |
|
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| Predicted Primers |
PCR Primer
(F):5'- TGTTCTCAGGCCACAAAACTC -3'
(R):5'- TCTCTTGAAATAGTGGATGTCCTG -3'
Sequencing Primer
(F):5'- AGGAACTCGCTATACCCAGTGG -3'
(R):5'- GGATGTCCTGTACTGTAGCAC -3'
|
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| Posted On | 2014-11-11 |
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