Incidental Mutation 'R0940:Pkm'
ID 81428
Institutional Source Beutler Lab
Gene Symbol Pkm
Ensembl Gene ENSMUSG00000032294
Gene Name pyruvate kinase, muscle
Synonyms Pk-3, Pk3, Pk-2, Pkm2
MMRRC Submission 039079-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0940 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 59563859-59586655 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 59575818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034834] [ENSMUST00000163694] [ENSMUST00000213930] [ENSMUST00000217353] [ENSMUST00000216857] [ENSMUST00000215623] [ENSMUST00000215660] [ENSMUST00000217038] [ENSMUST00000216620]
AlphaFold P52480
Predicted Effect probably benign
Transcript: ENSMUST00000034834
SMART Domains Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294

DomainStartEndE-ValueType
Pfam:PK 42 395 1.3e-172 PFAM
Pfam:PK_C 409 529 3.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163694
SMART Domains Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000213930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214571
Predicted Effect probably benign
Transcript: ENSMUST00000217353
Predicted Effect probably benign
Transcript: ENSMUST00000216857
Predicted Effect probably benign
Transcript: ENSMUST00000215623
Predicted Effect probably benign
Transcript: ENSMUST00000215660
Predicted Effect probably benign
Transcript: ENSMUST00000217038
Predicted Effect probably benign
Transcript: ENSMUST00000216620
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 100% (68/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
2610021A01Rik T G 7: 41,275,858 (GRCm39) I520M probably damaging Het
Ackr4 A G 9: 103,976,831 (GRCm39) F39L probably damaging Het
Adgre5 C T 8: 84,460,126 (GRCm39) S92N probably damaging Het
Adrb2 T C 18: 62,312,762 (GRCm39) D21G probably benign Het
Akr1c6 G A 13: 4,486,372 (GRCm39) E60K probably benign Het
Bcl7c T A 7: 127,306,503 (GRCm39) N96I possibly damaging Het
Brca1 A T 11: 101,422,969 (GRCm39) S106R possibly damaging Het
C6 A T 15: 4,764,717 (GRCm39) T138S probably benign Het
Cul3 T C 1: 80,300,564 (GRCm39) probably benign Het
Dnah8 T A 17: 31,022,217 (GRCm39) M3939K probably damaging Het
Dock4 T A 12: 40,681,626 (GRCm39) probably benign Het
Dsc2 T G 18: 20,183,116 (GRCm39) T101P probably damaging Het
Dynlt1b T C 17: 6,697,649 (GRCm39) probably benign Het
E330013P04Rik A G 19: 60,150,354 (GRCm39) noncoding transcript Het
Fggy A G 4: 95,585,238 (GRCm39) E39G probably benign Het
Fhip1a A G 3: 85,572,797 (GRCm39) V952A possibly damaging Het
Fmo6 A T 1: 162,753,795 (GRCm39) C116S probably benign Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gmps A G 3: 63,883,743 (GRCm39) probably benign Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Hnrnpm G A 17: 33,868,976 (GRCm39) R523C probably damaging Het
Inpp5a T C 7: 139,105,654 (GRCm39) Y202H probably damaging Het
Kank3 C T 17: 34,036,450 (GRCm39) S106F probably damaging Het
Lmcd1 A G 6: 112,305,658 (GRCm39) D253G probably benign Het
Lrrk2 A T 15: 91,613,284 (GRCm39) I803F possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Mycbp2 A T 14: 103,500,129 (GRCm39) probably benign Het
Myh4 A T 11: 67,133,689 (GRCm39) N243Y probably damaging Het
Myorg A G 4: 41,497,996 (GRCm39) Y545H probably damaging Het
Nfatc1 C T 18: 80,679,110 (GRCm39) M759I probably benign Het
Nipal4 A G 11: 46,041,139 (GRCm39) I352T possibly damaging Het
Nomo1 A G 7: 45,683,329 (GRCm39) E25G possibly damaging Het
Or10j27 A G 1: 172,958,020 (GRCm39) S255P probably benign Het
Or13a19 T C 7: 139,903,065 (GRCm39) I151T probably benign Het
Or14j7 A G 17: 38,234,591 (GRCm39) I45V probably damaging Het
Or1e32 T C 11: 73,705,050 (GRCm39) N286S probably damaging Het
Or4c116 T A 2: 88,942,419 (GRCm39) I146L probably benign Het
Or5p66 T C 7: 107,886,264 (GRCm39) D23G probably benign Het
Pabpn1l A G 8: 123,349,183 (GRCm39) V78A probably benign Het
Pde6b T A 5: 108,568,203 (GRCm39) I327N possibly damaging Het
Phrf1 T C 7: 140,834,768 (GRCm39) probably benign Het
Plxna2 G A 1: 194,482,863 (GRCm39) V1519I probably benign Het
Ppp2cb T C 8: 34,105,689 (GRCm39) probably null Het
Prickle2 A G 6: 92,387,984 (GRCm39) Y473H probably benign Het
Prpf3 A G 3: 95,751,535 (GRCm39) W389R probably damaging Het
Psme4 G A 11: 30,765,264 (GRCm39) E544K possibly damaging Het
Relb A T 7: 19,345,767 (GRCm39) D395E probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,307,389 (GRCm39) N683S probably benign Het
Rtel1 T C 2: 180,964,596 (GRCm39) C102R probably benign Het
Sel1l3 C T 5: 53,301,379 (GRCm39) probably benign Het
Slc8a2 A G 7: 15,878,887 (GRCm39) T458A probably benign Het
Smc3 T A 19: 53,629,340 (GRCm39) M931K probably benign Het
Sorbs2 T C 8: 46,249,539 (GRCm39) V795A probably benign Het
Tgm3 A G 2: 129,854,326 (GRCm39) S2G probably benign Het
Tpbpa T C 13: 61,087,867 (GRCm39) T75A probably damaging Het
Trub1 A G 19: 57,473,495 (GRCm39) probably benign Het
Uggt2 A G 14: 119,328,604 (GRCm39) probably null Het
Ugt2a3 A G 5: 87,475,065 (GRCm39) V393A possibly damaging Het
Vav3 T A 3: 109,470,151 (GRCm39) M532K possibly damaging Het
Zfp616 A T 11: 73,975,850 (GRCm39) K706N probably damaging Het
Zkscan1 T C 5: 138,091,432 (GRCm39) F55S probably damaging Het
Other mutations in Pkm
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCGGCCATTGCTCACTAAGTCAAC -3'
(R):5'- AGATACTCACGCCCTTGATGAGTCC -3'

Sequencing Primer
(F):5'- TGCCAGGGCAGAAATCTTC -3'
(R):5'- CCTTGATGAGTCCAGTCCG -3'
Posted On 2013-11-07