Incidental Mutation 'R9001:Pkm'
| ID |
684971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkm
|
| Ensembl Gene |
ENSMUSG00000032294 |
| Gene Name |
pyruvate kinase, muscle |
| Synonyms |
Pk-3, Pk3, Pk-2, Pkm2 |
| MMRRC Submission |
068832-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59563859-59586655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59572626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 44
(N44S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034834]
[ENSMUST00000163694]
[ENSMUST00000213930]
[ENSMUST00000215623]
[ENSMUST00000215660]
[ENSMUST00000216620]
[ENSMUST00000216857]
[ENSMUST00000217038]
[ENSMUST00000217353]
|
| AlphaFold |
P52480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034834
AA Change: N44S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: N44S
| 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: ENSMUST00000163694
AA Change: N44S
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: N44S
| 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 |
probably benign
Transcript: ENSMUST00000213930
AA Change: N44S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215623
AA Change: N44S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215660
AA Change: N44S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216620
AA Change: N44S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216857
AA Change: N44S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217038
AA Change: N44S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217353
AA Change: N44S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0817 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
T |
C |
12: 110,637,176 (GRCm39) |
R26G |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,462 (GRCm39) |
N439S |
probably damaging |
Het |
| Arfgef3 |
C |
T |
10: 18,522,476 (GRCm39) |
E517K |
probably benign |
Het |
| Arhgap29 |
A |
T |
3: 121,775,523 (GRCm39) |
I89L |
probably benign |
Het |
| Btbd3 |
G |
A |
2: 138,122,296 (GRCm39) |
V149I |
possibly damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,534 (GRCm39) |
H362L |
probably benign |
Het |
| Cmtm2a |
A |
G |
8: 105,019,376 (GRCm39) |
V71A |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,944,370 (GRCm39) |
I1035F |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,079 (GRCm39) |
V1279A |
|
Het |
| Csmd3 |
A |
T |
15: 47,596,901 (GRCm39) |
V1068E |
|
Het |
| Ddx50 |
T |
C |
10: 62,475,728 (GRCm39) |
Y331C |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,916,623 (GRCm39) |
Y631H |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,852,515 (GRCm39) |
G1915S |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,436,374 (GRCm39) |
*2463W |
probably null |
Het |
| Dst |
G |
T |
1: 34,213,292 (GRCm39) |
V1395F |
possibly damaging |
Het |
| Dzip1l |
T |
C |
9: 99,523,907 (GRCm39) |
|
probably null |
Het |
| Eef1akmt3 |
T |
C |
10: 126,877,232 (GRCm39) |
E11G |
probably benign |
Het |
| Elfn2 |
A |
G |
15: 78,557,438 (GRCm39) |
F370L |
probably benign |
Het |
| Enam |
T |
A |
5: 88,637,388 (GRCm39) |
F104Y |
probably benign |
Het |
| Esd |
A |
G |
14: 74,983,123 (GRCm39) |
E258G |
probably benign |
Het |
| Fam181b |
G |
A |
7: 92,730,356 (GRCm39) |
A377T |
unknown |
Het |
| Gabrr3 |
A |
G |
16: 59,282,008 (GRCm39) |
I454M |
probably benign |
Het |
| Ggt5 |
T |
A |
10: 75,445,992 (GRCm39) |
V462D |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,178 (GRCm39) |
S67G |
unknown |
Het |
| Grn |
A |
T |
11: 102,327,497 (GRCm39) |
Y286F |
|
Het |
| Gulp1 |
A |
G |
1: 44,827,709 (GRCm39) |
I284V |
probably benign |
Het |
| Ilf2 |
A |
G |
3: 90,390,108 (GRCm39) |
N140S |
probably benign |
Het |
| Ints4 |
C |
A |
7: 97,190,276 (GRCm39) |
P925Q |
possibly damaging |
Het |
| Khdc1b |
A |
G |
1: 21,454,560 (GRCm39) |
N88D |
possibly damaging |
Het |
| Kif15 |
T |
G |
9: 122,826,855 (GRCm39) |
C798G |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,910,409 (GRCm39) |
V285E |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,641,860 (GRCm39) |
S59G |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,299,999 (GRCm39) |
M333T |
probably benign |
Het |
| Mrm3 |
A |
G |
11: 76,141,234 (GRCm39) |
D414G |
probably benign |
Het |
| Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
| Mtpap |
A |
G |
18: 4,380,831 (GRCm39) |
N170D |
probably benign |
Het |
| Nelfb |
C |
A |
2: 25,096,287 (GRCm39) |
R274L |
probably damaging |
Het |
| Or56a3b |
T |
G |
7: 104,771,447 (GRCm39) |
V261G |
probably damaging |
Het |
| Rel |
T |
C |
11: 23,698,855 (GRCm39) |
D144G |
probably damaging |
Het |
| Scgb2b21 |
A |
T |
7: 33,218,956 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
A |
13: 33,277,743 (GRCm39) |
D325E |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,748,956 (GRCm39) |
C654R |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,291,798 (GRCm39) |
K143R |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,235,529 (GRCm39) |
H2034Y |
unknown |
Het |
| Thbs2 |
T |
C |
17: 14,889,007 (GRCm39) |
D1164G |
probably damaging |
Het |
| Tnfrsf10b |
T |
C |
14: 70,015,250 (GRCm39) |
S243P |
possibly damaging |
Het |
| Tnxb |
T |
A |
17: 34,922,410 (GRCm39) |
S2408T |
probably benign |
Het |
| Topors |
A |
T |
4: 40,261,696 (GRCm39) |
D529E |
possibly damaging |
Het |
| Trmt5 |
T |
C |
12: 73,331,643 (GRCm39) |
M138V |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,104 (GRCm39) |
I242M |
possibly damaging |
Het |
| Zfp523 |
A |
G |
17: 28,408,915 (GRCm39) |
Q21R |
possibly damaging |
Het |
| Zfp646 |
T |
A |
7: 127,478,856 (GRCm39) |
N344K |
probably damaging |
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 |
|
IGL02054:Pkm
|
APN |
9 |
59,585,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGACAGCTTCCTATGCC -3'
(R):5'- AGCACACTAATTCTTCTTGATGGC -3'
Sequencing Primer
(F):5'- AGTGCCTCATTAAGCAGTGC -3'
(R):5'- CTTGATGGCCAATTCCCAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation