Incidental Mutation 'IGL02054:Pkm'
| ID |
185161 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pkm
|
| Ensembl Gene |
ENSMUSG00000032294 |
| Gene Name |
pyruvate kinase, muscle |
| Synonyms |
Pk-3, Pk3, Pk-2, Pkm2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02054
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
59563859-59586655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59585484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 489
(R489S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034834]
[ENSMUST00000123914]
[ENSMUST00000163694]
|
| AlphaFold |
P52480 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034834
AA Change: R489S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: R489S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PK
|
42 |
395 |
1.3e-172 |
PFAM |
|
Pfam:PK_C
|
409 |
529 |
3.1e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123914
|
| SMART Domains |
Protein: ENSMUSP00000114530
Gene: ENSMUSG00000074259
| Domain | Start | End | E-Value | Type |
|---|
|
GRAM
|
73 |
140 |
2.93e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163694
AA Change: R489S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: R489S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PK
|
42 |
395 |
2.6e-174 |
PFAM |
|
Pfam:PK_C
|
410 |
528 |
1.9e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214037
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit prenatal lethality around the time of implanatation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,182,949 (GRCm39) |
P1036Q |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,261,253 (GRCm39) |
S163G |
probably benign |
Het |
| Camkk1 |
G |
A |
11: 72,916,708 (GRCm39) |
R102Q |
probably damaging |
Het |
| Caprin1 |
A |
C |
2: 103,602,143 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,287,364 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,893,552 (GRCm39) |
M941V |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,861,646 (GRCm39) |
R1327Q |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,033,630 (GRCm39) |
S529P |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,230,673 (GRCm39) |
D417G |
probably benign |
Het |
| Gemin2 |
G |
A |
12: 59,068,523 (GRCm39) |
|
probably null |
Het |
| Grk6 |
G |
T |
13: 55,602,210 (GRCm39) |
A346S |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,849 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
A |
10: 120,012,164 (GRCm39) |
Q200L |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,947 (GRCm39) |
T448A |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,223,595 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
G |
A |
19: 59,224,045 (GRCm39) |
|
probably benign |
Het |
| Klk1b11 |
C |
A |
7: 43,648,251 (GRCm39) |
S86Y |
possibly damaging |
Het |
| Lgals7 |
T |
C |
7: 28,565,614 (GRCm39) |
F136S |
probably damaging |
Het |
| Luc7l |
T |
A |
17: 26,498,314 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
T |
A |
19: 8,928,276 (GRCm39) |
V525E |
probably benign |
Het |
| Mtnr1b |
G |
T |
9: 15,785,536 (GRCm39) |
A74E |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,551,962 (GRCm39) |
T354A |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,074 (GRCm39) |
F153S |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,035,867 (GRCm39) |
C48R |
probably damaging |
Het |
| Or4f60 |
T |
G |
2: 111,902,269 (GRCm39) |
I220L |
probably benign |
Het |
| Pth2r |
T |
A |
1: 65,375,940 (GRCm39) |
I66N |
probably damaging |
Het |
| Slc25a18 |
T |
C |
6: 120,769,358 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
T |
C |
6: 65,567,595 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,926,158 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pkm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01693:Pkm
|
APN |
9 |
59,577,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02014:Pkm
|
APN |
9 |
59,576,244 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
negligible
|
UTSW |
9 |
59,577,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Pkm
|
UTSW |
9 |
59,575,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0087:Pkm
|
UTSW |
9 |
59,585,382 (GRCm39) |
nonsense |
probably null |
|
|
R0603:Pkm
|
UTSW |
9 |
59,573,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0940:Pkm
|
UTSW |
9 |
59,575,818 (GRCm39) |
splice site |
probably benign |
|
|
R0990:Pkm
|
UTSW |
9 |
59,585,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Pkm
|
UTSW |
9 |
59,576,193 (GRCm39) |
splice site |
probably null |
|
|
R5104:Pkm
|
UTSW |
9 |
59,575,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5369:Pkm
|
UTSW |
9 |
59,577,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6831:Pkm
|
UTSW |
9 |
59,582,398 (GRCm39) |
missense |
probably benign |
|
|
R6974:Pkm
|
UTSW |
9 |
59,575,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7169:Pkm
|
UTSW |
9 |
59,578,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7288:Pkm
|
UTSW |
9 |
59,576,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7621:Pkm
|
UTSW |
9 |
59,585,441 (GRCm39) |
nonsense |
probably null |
|
|
R7844:Pkm
|
UTSW |
9 |
59,578,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8217:Pkm
|
UTSW |
9 |
59,586,092 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8234:Pkm
|
UTSW |
9 |
59,577,882 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8301:Pkm
|
UTSW |
9 |
59,575,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8313:Pkm
|
UTSW |
9 |
59,575,902 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8977:Pkm
|
UTSW |
9 |
59,578,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Pkm
|
UTSW |
9 |
59,572,626 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9042:Pkm
|
UTSW |
9 |
59,579,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9603:Pkm
|
UTSW |
9 |
59,577,831 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1190:Pkm
|
UTSW |
9 |
59,585,353 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
| Posted On |
2014-05-07 |
Incidental Mutation