Incidental Mutation 'R5104:Pkm'
ID 392564
Institutional Source Beutler Lab
Gene Symbol Pkm
Ensembl Gene ENSMUSG00000032294
Gene Name pyruvate kinase, muscle
Synonyms Pk-3, Pk3, Pk-2, Pkm2
MMRRC Submission 042692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5104 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 59563859-59586655 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 59575964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034834] [ENSMUST00000034834] [ENSMUST00000163694] [ENSMUST00000163694] [ENSMUST00000163694] [ENSMUST00000163694] [ENSMUST00000213930] [ENSMUST00000213930] [ENSMUST00000215660] [ENSMUST00000215660] [ENSMUST00000215623] [ENSMUST00000215623] [ENSMUST00000217038] [ENSMUST00000217038] [ENSMUST00000217353] [ENSMUST00000217353] [ENSMUST00000216857] [ENSMUST00000216620]
AlphaFold P52480
Predicted Effect probably null
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 null
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 null
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 probably null
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 probably null
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 probably null
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 null
Transcript: ENSMUST00000213930
Predicted Effect probably null
Transcript: ENSMUST00000213930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214571
Predicted Effect probably null
Transcript: ENSMUST00000215660
Predicted Effect probably null
Transcript: ENSMUST00000215660
Predicted Effect probably null
Transcript: ENSMUST00000215623
Predicted Effect probably null
Transcript: ENSMUST00000215623
Predicted Effect probably null
Transcript: ENSMUST00000217038
Predicted Effect probably null
Transcript: ENSMUST00000217038
Predicted Effect probably null
Transcript: ENSMUST00000217353
Predicted Effect probably null
Transcript: ENSMUST00000217353
Predicted Effect probably benign
Transcript: ENSMUST00000216857
Predicted Effect probably benign
Transcript: ENSMUST00000216620
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.0%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,158,121 (GRCm39) F109L probably damaging Het
Ano4 T A 10: 88,903,974 (GRCm39) Q241L possibly damaging Het
Apof C T 10: 128,105,487 (GRCm39) R214* probably null Het
Armh4 A T 14: 50,010,929 (GRCm39) D259E possibly damaging Het
Atl2 A T 17: 80,160,046 (GRCm39) S47T probably benign Het
Azgp1 T G 5: 137,985,815 (GRCm39) I146S probably damaging Het
Bicral G A 17: 47,112,182 (GRCm39) T1006I probably damaging Het
Ccdc110 A T 8: 46,395,729 (GRCm39) N540I probably damaging Het
Ccdc77 T C 6: 120,325,346 (GRCm39) probably null Het
Cxcr5 G T 9: 44,424,616 (GRCm39) P347Q probably benign Het
Cyp4a14 T G 4: 115,353,126 (GRCm39) H62P probably damaging Het
Dgki T C 6: 37,126,509 (GRCm39) E157G possibly damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Ehd3 A G 17: 74,134,442 (GRCm39) N267S probably benign Het
Eno4 A G 19: 58,933,973 (GRCm39) Y58C probably benign Het
Fat2 A G 11: 55,169,814 (GRCm39) Y2982H possibly damaging Het
Frmd3 C A 4: 74,063,315 (GRCm39) A214D probably damaging Het
Gabrg1 A C 5: 70,931,775 (GRCm39) S323A probably damaging Het
Gbp9 T C 5: 105,228,007 (GRCm39) I592V probably benign Het
Gje1 G A 10: 14,592,462 (GRCm39) Q107* probably null Het
Gm29609 T C 5: 31,311,638 (GRCm39) probably null Het
Gpam A T 19: 55,082,418 (GRCm39) F78I probably benign Het
Hecw1 T C 13: 14,515,377 (GRCm39) R252G probably damaging Het
Hsd3b5 T A 3: 98,526,592 (GRCm39) S285C probably damaging Het
Ighv1-74 T C 12: 115,766,507 (GRCm39) K37E possibly damaging Het
Igkv8-34 T C 6: 70,021,138 (GRCm39) D108G probably damaging Het
Il6st C G 13: 112,625,182 (GRCm39) T266S probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kit A G 5: 75,776,138 (GRCm39) T307A probably benign Het
Kmt2b G A 7: 30,269,265 (GRCm39) R2552C probably damaging Het
Krt4 T A 15: 101,828,758 (GRCm39) R369W probably damaging Het
Larp4 T A 15: 99,883,964 (GRCm39) M8K probably damaging Het
Lrit3 T A 3: 129,582,040 (GRCm39) H528L possibly damaging Het
Mia3 A G 1: 183,119,579 (GRCm39) L157S probably damaging Het
Naa16 A T 14: 79,622,140 (GRCm39) Y32* probably null Het
Nbea A G 3: 55,987,348 (GRCm39) Y381H probably damaging Het
Nelfcd T C 2: 174,268,159 (GRCm39) V475A probably benign Het
Noxa1 T C 2: 24,976,246 (GRCm39) I347M probably benign Het
Or11h4b T A 14: 50,918,159 (GRCm39) K311* probably null Het
Or2ag17 A T 7: 106,389,539 (GRCm39) F223Y possibly damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or2y3 A T 17: 38,393,174 (GRCm39) S232T possibly damaging Het
Pabpc1l T A 2: 163,885,507 (GRCm39) I420K probably benign Het
Pi4ka C T 16: 17,098,914 (GRCm39) C1990Y probably damaging Het
Pkhd1 T A 1: 20,655,415 (GRCm39) Q223L probably damaging Het
Proz A G 8: 13,116,931 (GRCm39) D161G probably damaging Het
Ptprb C A 10: 116,158,364 (GRCm39) H765Q probably benign Het
Relch T C 1: 105,658,965 (GRCm39) V883A probably benign Het
Rffl A T 11: 82,703,619 (GRCm39) C101* probably null Het
Rfx5 C T 3: 94,862,451 (GRCm39) T36I probably benign Het
Rnase12 C A 14: 51,294,361 (GRCm39) C106F probably damaging Het
Samd3 T C 10: 26,139,686 (GRCm39) S273P possibly damaging Het
Simc1 A G 13: 54,674,175 (GRCm39) D841G probably benign Het
Slc8a3 T C 12: 81,260,908 (GRCm39) E607G probably null Het
Snrnp40 G T 4: 130,258,958 (GRCm39) G122V possibly damaging Het
Snx25 T C 8: 46,521,203 (GRCm39) *143W probably null Het
Taf15 A G 11: 83,378,222 (GRCm39) Y154C probably damaging Het
Tgfb3 A G 12: 86,105,756 (GRCm39) V333A possibly damaging Het
Tiam1 A G 16: 89,614,929 (GRCm39) S2P probably benign Het
Tmed11 T C 5: 108,925,142 (GRCm39) probably null Het
Tmtc4 T C 14: 123,170,257 (GRCm39) D585G probably damaging Het
Trabd2b T C 4: 114,264,114 (GRCm39) S34P probably benign Het
Trbv13-2 T C 6: 41,098,745 (GRCm39) Y107H probably damaging Het
Tuba3a A G 6: 125,259,347 (GRCm39) V115A probably benign Het
Tut1 A G 19: 8,936,698 (GRCm39) E174G probably benign Het
Ubr3 T A 2: 69,768,600 (GRCm39) M469K probably damaging Het
Vcan C T 13: 89,805,591 (GRCm39) probably benign Het
Wapl C T 14: 34,414,016 (GRCm39) Q293* probably null Het
Wdr24 A G 17: 26,043,565 (GRCm39) H129R probably damaging Het
Wrn A T 8: 33,757,895 (GRCm39) 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
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'- CATCTTTAGCTCCAGGGTGG -3'
(R):5'- AAGAAGCCAATGCCCCTGATG -3'

Sequencing Primer
(F):5'- GAAACTGGACAGGGACACCTC -3'
(R):5'- TGATGGGGGCGCTCAACTC -3'
Posted On 2016-06-15