Incidental Mutation 'R6974:Pkm'
ID 542362
Institutional Source Beutler Lab
Gene Symbol Pkm
Ensembl Gene ENSMUSG00000032294
Gene Name pyruvate kinase, muscle
Synonyms Pk-3, Pk3, Pk-2, Pkm2
MMRRC Submission 045084-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6974 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 59563859-59586655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59575853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 90 (N90D)
Ref Sequence ENSEMBL: ENSMUSP00000149983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034834] [ENSMUST00000163694] [ENSMUST00000213930] [ENSMUST00000215623] [ENSMUST00000215660] [ENSMUST00000216620] [ENSMUST00000216857] [ENSMUST00000217038] [ENSMUST00000217353]
AlphaFold P52480
Predicted Effect probably damaging
Transcript: ENSMUST00000034834
AA Change: N90D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: N90D

DomainStartEndE-ValueType
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: N90D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: N90D

DomainStartEndE-ValueType
Pfam:PK 42 395 2.6e-174 PFAM
Pfam:PK_C 410 528 1.9e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213930
AA Change: N90D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215623
AA Change: N90D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215660
AA Change: N90D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000216620
Predicted Effect probably damaging
Transcript: ENSMUST00000216857
AA Change: N90D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217038
AA Change: N90D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217353
AA Change: N90D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b T A 12: 70,206,221 (GRCm39) N67K probably benign Het
Amotl1 C A 9: 14,556,216 (GRCm39) E37* probably null Het
Ap4b1 C A 3: 103,720,601 (GRCm39) Y90* probably null Het
Apc A G 18: 34,431,480 (GRCm39) E277G possibly damaging Het
Atl1 T A 12: 69,972,813 (GRCm39) H44Q probably damaging Het
Atp6v0b G A 4: 117,742,864 (GRCm39) T74M probably benign Het
Auts2 T C 5: 131,469,437 (GRCm39) T627A probably benign Het
B4galnt4 T A 7: 140,647,449 (GRCm39) I372N possibly damaging Het
B4galt2 A G 4: 117,731,148 (GRCm39) S338P probably damaging Het
Cfap43 A C 19: 47,773,717 (GRCm39) probably null Het
Col4a1 T C 8: 11,362,538 (GRCm39) probably benign Het
Col7a1 A C 9: 108,798,494 (GRCm39) I1741L possibly damaging Het
Coprs A T 8: 13,935,750 (GRCm39) S90T probably benign Het
Csrnp3 T C 2: 65,779,408 (GRCm39) V40A possibly damaging Het
Ephx1 C A 1: 180,827,287 (GRCm39) probably null Het
Erich6 C A 3: 58,526,220 (GRCm39) R594L probably benign Het
F2rl2 A T 13: 95,837,038 (GRCm39) N28Y probably damaging Het
Fbxo38 A T 18: 62,639,740 (GRCm39) N1041K possibly damaging Het
Fcgr2b C T 1: 170,790,977 (GRCm39) probably null Het
Fsip2 T A 2: 82,809,061 (GRCm39) N1793K probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcnt3 A G 9: 69,942,169 (GRCm39) I133T probably damaging Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Hoxa1 T A 6: 52,135,021 (GRCm39) I61F probably damaging Het
Impact C T 18: 13,115,169 (GRCm39) L102F probably damaging Het
Ist1 A T 8: 110,404,284 (GRCm39) I196N probably damaging Het
Kcnv2 T A 19: 27,311,282 (GRCm39) S550T probably benign Het
Krt1c A T 15: 101,726,314 (GRCm39) S75T unknown Het
Krtap21-1 A G 16: 89,200,466 (GRCm39) S59P unknown Het
Lef1 A T 3: 130,905,223 (GRCm39) I35F probably damaging Het
Lpcat2 A C 8: 93,599,707 (GRCm39) N225T probably damaging Het
Lztfl1 A T 9: 123,538,649 (GRCm39) N142K probably benign Het
Mdh1b G A 1: 63,760,975 (GRCm39) H88Y probably benign Het
Mettl26 A G 17: 26,095,658 (GRCm39) D171G probably damaging Het
Mrps24 A T 11: 5,654,663 (GRCm39) M97K probably benign Het
Ms4a14 A T 19: 11,279,499 (GRCm39) C1020S probably benign Het
Mterf1a A T 5: 3,940,854 (GRCm39) I338K probably benign Het
Odad2 A T 18: 7,294,479 (GRCm39) Y45N probably benign Het
Or1e22 A G 11: 73,377,299 (GRCm39) I117T probably benign Het
Or4p20 T C 2: 88,254,156 (GRCm39) Y71C possibly damaging Het
Or52s1b T A 7: 102,822,442 (GRCm39) H134L probably damaging Het
Or7g12 T A 9: 18,899,689 (GRCm39) I135N probably damaging Het
Paqr3 T A 5: 97,256,146 (GRCm39) H76L probably damaging Het
Parp1 T A 1: 180,417,071 (GRCm39) Y618* probably null Het
Pilrb2 C T 5: 137,870,049 (GRCm39) probably benign Het
Pla2g4c T G 7: 13,078,459 (GRCm39) probably null Het
Plppr4 C T 3: 117,116,667 (GRCm39) V339I probably damaging Het
Pnkp T A 7: 44,510,462 (GRCm39) D304E probably damaging Het
Pnlip T C 19: 58,668,067 (GRCm39) probably null Het
Polr2a A G 11: 69,638,026 (GRCm39) C148R probably damaging Het
Ppp1r10 G A 17: 36,240,443 (GRCm39) G578S probably benign Het
Ptges2 C T 2: 32,287,683 (GRCm39) T137I possibly damaging Het
Ptpre T C 7: 135,270,877 (GRCm39) V344A possibly damaging Het
Rag1 A G 2: 101,472,137 (GRCm39) F1002L probably damaging Het
Rcn2 T A 9: 55,960,298 (GRCm39) Y188* probably null Het
Rest A G 5: 77,416,046 (GRCm39) S87G probably damaging Het
Rgsl1 C T 1: 153,675,568 (GRCm39) D913N probably damaging Het
Scp2 A G 4: 107,928,475 (GRCm39) M1T probably null Het
Slamf8 T A 1: 172,415,590 (GRCm39) N83Y probably damaging Het
Slc26a11 T A 11: 119,248,844 (GRCm39) F75Y possibly damaging Het
Slc26a5 A G 5: 22,045,570 (GRCm39) S133P probably damaging Het
Sncb A T 13: 54,910,487 (GRCm39) V83E probably damaging Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Trim38 A G 13: 23,973,502 (GRCm39) N277D probably benign Het
Vmn1r189 C T 13: 22,286,628 (GRCm39) G70S probably damaging Het
Vmn2r-ps117 A G 17: 19,058,495 (GRCm39) R684G probably benign Het
Wdr59 T C 8: 112,187,420 (GRCm39) N792D possibly damaging Het
Wnt5a A G 14: 28,244,527 (GRCm39) D238G possibly damaging Het
Zbtb42 C A 12: 112,646,824 (GRCm39) T333K probably damaging Het
Zfp119b A G 17: 56,245,564 (GRCm39) S509P probably benign Het
Zfp365 T A 10: 67,745,594 (GRCm39) K61N probably damaging Het
Zfp553 T C 7: 126,835,825 (GRCm39) F460S probably damaging Het
Zfp788 C T 7: 41,299,301 (GRCm39) Q594* probably null Het
Zfp984 T A 4: 147,845,707 (GRCm39) M1L possibly damaging Het
Zmiz2 T A 11: 6,347,566 (GRCm39) Y291* probably null 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
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
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'- GCAGTATTCTGGAACTGTATGAGAG -3'
(R):5'- TACCCGTTTCCCAGAGTGAG -3'

Sequencing Primer
(F):5'- CTGGAACTGTATGAGAGTTGGAG -3'
(R):5'- CCGTTTCCCAGAGTGAGACTAAATAG -3'
Posted On 2018-11-28