Incidental Mutation 'R0087:Pkm'
ID 19959
Institutional Source Beutler Lab
Gene Symbol Pkm
Ensembl Gene ENSMUSG00000032294
Gene Name pyruvate kinase, muscle
Synonyms Pk-3, Pk3, Pk-2, Pkm2
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 59563859-59586655 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 59585382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 455 (R455*)
Ref Sequence ENSEMBL: ENSMUSP00000128770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034834] [ENSMUST00000123914] [ENSMUST00000163694]
AlphaFold P52480
Predicted Effect probably null
Transcript: ENSMUST00000034834
AA Change: R455*
SMART Domains Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: R455*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
GRAM 73 140 2.93e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000163694
AA Change: R455*
SMART Domains Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: R455*

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 noncoding transcript
Transcript: ENSMUST00000214037
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N 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
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
Predicted Primers PCR Primer
(F):5'- TTGTCAGTGGGCAAAGCCTGTG -3'
(R):5'- CCTAAACAAGGGCTGAGGCTGAAC -3'

Sequencing Primer
(F):5'- AAAGCCTGTGGTCCAGAGTTG -3'
(R):5'- GGCCACAAAAGCTTGTGTTC -3'
Posted On 2013-04-11