Incidental Mutation 'R8301:Pkm'
ID 639267
Institutional Source Beutler Lab
Gene Symbol Pkm
Ensembl Gene ENSMUSG00000032294
Gene Name pyruvate kinase, muscle
Synonyms Pkm2, Pk-3, Pk-2, Pk3
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 59656368-59679375 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59668631 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 110 (V110E)
Ref Sequence ENSEMBL: ENSMUSP00000034834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034834] [ENSMUST00000163694]
AlphaFold P52480
Predicted Effect probably damaging
Transcript: ENSMUST00000034834
AA Change: V110E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: V110E

Pfam:PK 42 395 1.3e-172 PFAM
Pfam:PK_C 409 529 3.1e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163694
AA Change: V110E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: V110E

Pfam:PK 42 395 2.6e-174 PFAM
Pfam:PK_C 410 528 1.9e-36 PFAM
Meta Mutation Damage Score 0.9414 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 87,972,505 (GRCm38) I374F probably benign Het
Ak9 G A 10: 41,424,716 (GRCm38) V1108I Het
Aldh16a1 C T 7: 45,141,982 (GRCm38) A790T possibly damaging Het
Anks1 A T 17: 28,059,580 (GRCm38) probably benign Het
Antxr2 T G 5: 97,977,679 (GRCm38) T240P probably benign Het
Arfgef1 A T 1: 10,179,833 (GRCm38) M945K probably damaging Het
Arhgef17 T C 7: 100,879,659 (GRCm38) T1591A probably benign Het
Aurka A G 2: 172,356,930 (GRCm38) S374P probably damaging Het
Bccip T C 7: 133,719,204 (GRCm38) S236P probably benign Het
Cacna1s T A 1: 136,073,441 (GRCm38) probably benign Het
Calm1 A G 12: 100,205,685 (GRCm38) E132G probably benign Het
Casz1 A G 4: 148,946,043 (GRCm38) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm38) D413G probably damaging Het
Cfap57 A G 4: 118,593,074 (GRCm38) I617T possibly damaging Het
Creb5 A G 6: 53,681,033 (GRCm38) D116G possibly damaging Het
Csnka2ip A C 16: 64,478,991 (GRCm38) S337A unknown Het
Ddx60 A G 8: 62,000,597 (GRCm38) E1250G probably benign Het
Dlgap2 T A 8: 14,823,577 (GRCm38) S727T probably benign Het
Dpy19l1 T C 9: 24,485,111 (GRCm38) probably benign Het
Ebf2 A G 14: 67,238,982 (GRCm38) T134A possibly damaging Het
Echdc2 A T 4: 108,172,909 (GRCm38) M136L probably benign Het
Enpp2 A G 15: 54,851,407 (GRCm38) F598S probably benign Het
Extl3 A C 14: 65,076,284 (GRCm38) L483R probably damaging Het
Gcat T C 15: 79,035,889 (GRCm38) V227A possibly damaging Het
Hsf2 A G 10: 57,505,346 (GRCm38) D344G probably damaging Het
Ighm C T 12: 113,421,545 (GRCm38) G265D Het
Igsf9b T G 9: 27,334,739 (GRCm38) probably benign Het
Ints6 A G 14: 62,702,453 (GRCm38) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm38) E182G probably damaging Het
Iqgap2 A G 13: 95,682,151 (GRCm38) probably null Het
Kalrn G T 16: 34,357,100 (GRCm38) Q250K probably benign Het
Lrrc1 T A 9: 77,544,488 (GRCm38) N46Y probably damaging Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Naa50 A G 16: 44,157,131 (GRCm38) N74S probably benign Het
Neb T C 2: 52,288,835 (GRCm38) N1303S probably benign Het
Nfs1 A T 2: 156,134,493 (GRCm38) C160* probably null Het
Olfr472 A G 7: 107,903,626 (GRCm38) K303R probably benign Het
Olfr591 T G 7: 103,173,073 (GRCm38) K188T probably damaging Het
Olfr740 T A 14: 50,453,564 (GRCm38) S171T probably benign Het
Olfr809 T C 10: 129,776,840 (GRCm38) S309P probably benign Het
Orm2 T C 4: 63,363,026 (GRCm38) F67S possibly damaging Het
Pex5 A G 6: 124,405,183 (GRCm38) S180P probably benign Het
Phf14 G C 6: 11,992,062 (GRCm38) G746R probably damaging Het
Plekha6 T G 1: 133,264,687 (GRCm38) N78K probably damaging Het
Plxna2 G A 1: 194,790,175 (GRCm38) V1076I probably benign Het
Polq C A 16: 37,061,819 (GRCm38) D1448E probably damaging Het
Pot1b T C 17: 55,687,895 (GRCm38) T256A probably benign Het
Prkch C T 12: 73,702,764 (GRCm38) T377I possibly damaging Het
Prl3c1 A C 13: 27,199,185 (GRCm38) probably benign Het
Prl7b1 A C 13: 27,602,772 (GRCm38) V158G possibly damaging Het
Prss22 T C 17: 23,993,981 (GRCm38) S261G probably damaging Het
Psd T C 19: 46,321,102 (GRCm38) probably benign Het
Psg18 A T 7: 18,353,377 (GRCm38) Y119N probably damaging Het
Rbm6 T G 9: 107,852,794 (GRCm38) R218S probably damaging Het
Rnf213 T A 11: 119,434,742 (GRCm38) S1491T Het
Rsf1 T C 7: 97,661,925 (GRCm38) S621P Het
Runx1 C A 16: 92,605,656 (GRCm38) *466L probably null Het
Samd4 A G 14: 47,016,678 (GRCm38) I200V probably benign Het
Sdsl C T 5: 120,459,519 (GRCm38) C241Y probably benign Het
Selenon T C 4: 134,551,414 (GRCm38) probably benign Het
Setx C T 2: 29,145,690 (GRCm38) P729L possibly damaging Het
Sf1 C T 19: 6,368,366 (GRCm38) Q55* probably null Het
Slc12a5 A T 2: 164,993,691 (GRCm38) N833I probably damaging Het
Slc1a4 T C 11: 20,332,286 (GRCm38) R63G probably damaging Het
Tmeff2 G T 1: 51,181,837 (GRCm38) A324S probably benign Het
Tmem217 A G 17: 29,526,492 (GRCm38) I88T possibly damaging Het
Tnfsf8 A T 4: 63,860,878 (GRCm38) I61N probably benign Het
Tpbgl G T 7: 99,625,567 (GRCm38) A361E probably damaging Het
Trhde T A 10: 114,487,006 (GRCm38) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm38) T1598A probably benign Het
Vmn2r73 A T 7: 85,858,302 (GRCm38) C601S probably benign Het
Zfp873 C A 10: 82,060,879 (GRCm38) H481Q probably damaging Het
Other mutations in Pkm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Pkm APN 9 59,670,522 (GRCm38) missense probably damaging 1.00
IGL02014:Pkm APN 9 59,668,961 (GRCm38) missense possibly damaging 0.59
IGL02054:Pkm APN 9 59,678,201 (GRCm38) missense probably damaging 1.00
negligible UTSW 9 59,670,634 (GRCm38) missense probably damaging 1.00
G1Funyon:Pkm UTSW 9 59,668,631 (GRCm38) missense probably damaging 0.99
R0087:Pkm UTSW 9 59,678,099 (GRCm38) nonsense probably null
R0603:Pkm UTSW 9 59,665,881 (GRCm38) missense probably damaging 0.97
R0940:Pkm UTSW 9 59,668,535 (GRCm38) splice site probably benign
R0990:Pkm UTSW 9 59,678,096 (GRCm38) missense probably damaging 1.00
R1446:Pkm UTSW 9 59,668,910 (GRCm38) splice site probably null
R5104:Pkm UTSW 9 59,668,681 (GRCm38) critical splice donor site probably null
R5369:Pkm UTSW 9 59,670,634 (GRCm38) missense probably damaging 1.00
R6831:Pkm UTSW 9 59,675,115 (GRCm38) missense probably benign
R6974:Pkm UTSW 9 59,668,570 (GRCm38) missense probably damaging 0.99
R7169:Pkm UTSW 9 59,671,625 (GRCm38) missense possibly damaging 0.95
R7288:Pkm UTSW 9 59,668,913 (GRCm38) missense probably benign 0.00
R7621:Pkm UTSW 9 59,678,158 (GRCm38) nonsense probably null
R7844:Pkm UTSW 9 59,670,722 (GRCm38) missense probably benign 0.00
R8217:Pkm UTSW 9 59,678,809 (GRCm38) missense possibly damaging 0.74
R8234:Pkm UTSW 9 59,670,599 (GRCm38) missense possibly damaging 0.87
R8313:Pkm UTSW 9 59,668,619 (GRCm38) missense probably benign 0.04
R8977:Pkm UTSW 9 59,671,640 (GRCm38) missense probably damaging 1.00
R9001:Pkm UTSW 9 59,665,343 (GRCm38) missense probably benign 0.19
R9042:Pkm UTSW 9 59,671,937 (GRCm38) missense probably damaging 1.00
R9603:Pkm UTSW 9 59,670,548 (GRCm38) missense probably damaging 0.97
Z1190:Pkm UTSW 9 59,678,070 (GRCm38) missense possibly damaging 0.60
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-28