Incidental Mutation 'R5946:Pklr'
ID 472154
Institutional Source Beutler Lab
Gene Symbol Pklr
Ensembl Gene ENSMUSG00000041237
Gene Name pyruvate kinase liver and red blood cell
Synonyms R-PK, Pk1, Pk-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R5946 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89043449-89054091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89043503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 5 (E5V)
Ref Sequence ENSEMBL: ENSMUSP00000035417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047111] [ENSMUST00000107482] [ENSMUST00000127058]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047111
AA Change: E5V

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: E5V

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:PK 85 438 6.9e-165 PFAM
Pfam:PK_C 453 571 3.6e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107482
SMART Domains Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237

DomainStartEndE-ValueType
Pfam:PK 54 407 3.1e-163 PFAM
Pfam:PK_C 421 541 4.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127058
SMART Domains Protein: ENSMUSP00000119392
Gene: ENSMUSG00000041237

DomainStartEndE-ValueType
Pfam:PK 21 72 7.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151591
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for loss of function mutations in this gene suffer from hemolytic anemia. This is also a candidate gene for malaria resistance QTL Char4 and immunity to Salmonella typhimurium QTL Ity4. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,571,678 (GRCm39) F1137S probably damaging Het
Actr6 G T 10: 89,564,054 (GRCm39) Q73K probably benign Het
Adamtsl3 G A 7: 82,225,265 (GRCm39) G358D probably damaging Het
Aggf1 A G 13: 95,508,084 (GRCm39) V94A probably damaging Het
Arpc3 A G 5: 122,541,459 (GRCm39) Y57C probably damaging Het
Asb2 A G 12: 103,287,814 (GRCm39) Y630H probably benign Het
Atp1a1 A T 3: 101,497,090 (GRCm39) N405K probably benign Het
C6 G T 15: 4,837,996 (GRCm39) D869Y possibly damaging Het
Cds2 A G 2: 132,139,168 (GRCm39) Y137C probably damaging Het
Ceacam12 A T 7: 17,803,131 (GRCm39) E179V probably damaging Het
Chgb T A 2: 132,634,516 (GRCm39) Y153N probably benign Het
Cit T A 5: 116,135,593 (GRCm39) L1831Q probably damaging Het
Cpne8 C A 15: 90,373,191 (GRCm39) *578L probably null Het
Cspg5 A G 9: 110,080,151 (GRCm39) T440A probably damaging Het
Dnah7a A C 1: 53,598,467 (GRCm39) V1393G probably damaging Het
Dnajb8 A G 6: 88,199,575 (GRCm39) D37G probably benign Het
Dst A G 1: 34,213,273 (GRCm39) I1063M probably benign Het
Efs T G 14: 55,156,951 (GRCm39) probably null Het
Gpatch1 A G 7: 34,991,257 (GRCm39) S596P probably damaging Het
Hbs1l C A 10: 21,217,655 (GRCm39) H190Q probably benign Het
Ighm A G 12: 113,386,329 (GRCm39) V7A unknown Het
Ivd A T 2: 118,707,370 (GRCm39) I295F possibly damaging Het
Kcnq5 A C 1: 21,575,931 (GRCm39) S258A probably damaging Het
Mad1l1 G T 5: 140,247,334 (GRCm39) P331Q probably damaging Het
Mcf2l G T 8: 13,063,922 (GRCm39) G1045C probably damaging Het
Mcoln1 T A 8: 3,558,701 (GRCm39) I233N probably damaging Het
Mmp13 T C 9: 7,276,580 (GRCm39) L225P probably damaging Het
Muc5ac G A 7: 141,371,644 (GRCm39) C2615Y possibly damaging Het
Myh7b T C 2: 155,463,315 (GRCm39) F516L probably damaging Het
Obsl1 A T 1: 75,467,851 (GRCm39) S1347R probably damaging Het
Ogn A G 13: 49,771,761 (GRCm39) N207S probably benign Het
Or2h15 C A 17: 38,441,598 (GRCm39) A162S probably benign Het
Or8b12 T A 9: 37,658,330 (GRCm39) L300Q probably damaging Het
Pcdha2 G T 18: 37,074,159 (GRCm39) V597L probably damaging Het
Pcnt T A 10: 76,217,897 (GRCm39) Y2126F possibly damaging Het
Pgbd5 A T 8: 125,101,056 (GRCm39) M400K possibly damaging Het
Pkp4 T A 2: 59,135,411 (GRCm39) D94E probably benign Het
Ppan C T 9: 20,800,969 (GRCm39) Q111* probably null Het
Prkcb A G 7: 122,143,926 (GRCm39) N330S probably benign Het
Prl4a1 T A 13: 28,202,499 (GRCm39) W25R probably damaging Het
Rars2 T A 4: 34,656,855 (GRCm39) H501Q possibly damaging Het
Ryr2 T C 13: 11,741,839 (GRCm39) D2114G probably damaging Het
Serinc2 G T 4: 130,149,314 (GRCm39) T351K possibly damaging Het
Slc22a12 A G 19: 6,587,881 (GRCm39) F358L probably damaging Het
Sorcs2 A C 5: 36,186,427 (GRCm39) V905G probably damaging Het
Tekt3 G C 11: 62,985,573 (GRCm39) A460P probably damaging Het
Tm4sf1 T G 3: 57,200,289 (GRCm39) I109L possibly damaging Het
Tmc5 A T 7: 118,269,948 (GRCm39) E899D probably damaging Het
Tmem268 C T 4: 63,486,746 (GRCm39) P90S probably damaging Het
Trim38 A G 13: 23,966,717 (GRCm39) M55V probably benign Het
Trip10 T G 17: 57,557,963 (GRCm39) V50G probably damaging Het
Usp25 T A 16: 76,911,942 (GRCm39) C990* probably null Het
Uts2 A G 4: 151,083,506 (GRCm39) D39G probably benign Het
Vezf1 T A 11: 87,964,560 (GRCm39) C49* probably null Het
Wee2 T A 6: 40,440,146 (GRCm39) N431K probably null Het
Yeats2 C A 16: 20,026,513 (GRCm39) Y796* probably null Het
Zfp592 G A 7: 80,687,645 (GRCm39) G890D possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Pklr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Pklr APN 3 89,052,302 (GRCm39) missense probably damaging 1.00
IGL02108:Pklr APN 3 89,044,710 (GRCm39) missense probably damaging 1.00
IGL03030:Pklr APN 3 89,049,963 (GRCm39) missense probably damaging 1.00
IGL03401:Pklr APN 3 89,050,036 (GRCm39) missense probably benign 0.41
R0088:Pklr UTSW 3 89,049,215 (GRCm39) missense probably damaging 1.00
R0801:Pklr UTSW 3 89,052,829 (GRCm39) nonsense probably null
R1061:Pklr UTSW 3 89,052,188 (GRCm39) missense probably damaging 1.00
R1434:Pklr UTSW 3 89,050,342 (GRCm39) missense probably damaging 1.00
R2030:Pklr UTSW 3 89,050,545 (GRCm39) missense probably damaging 1.00
R2131:Pklr UTSW 3 89,049,967 (GRCm39) missense probably damaging 1.00
R3703:Pklr UTSW 3 89,050,008 (GRCm39) missense probably damaging 1.00
R4372:Pklr UTSW 3 89,052,830 (GRCm39) nonsense probably null
R5279:Pklr UTSW 3 89,050,566 (GRCm39) missense probably damaging 1.00
R5401:Pklr UTSW 3 89,049,173 (GRCm39) missense probably damaging 1.00
R5809:Pklr UTSW 3 89,049,091 (GRCm39) missense probably benign
R6331:Pklr UTSW 3 89,044,662 (GRCm39) missense probably damaging 0.99
R7559:Pklr UTSW 3 89,050,365 (GRCm39) missense probably damaging 1.00
R7711:Pklr UTSW 3 89,048,649 (GRCm39) missense probably damaging 1.00
R7848:Pklr UTSW 3 89,050,285 (GRCm39) missense possibly damaging 0.81
R7943:Pklr UTSW 3 89,048,814 (GRCm39) missense probably damaging 0.99
R8145:Pklr UTSW 3 89,052,795 (GRCm39) missense probably benign
R8953:Pklr UTSW 3 89,049,612 (GRCm39) missense probably damaging 1.00
R8964:Pklr UTSW 3 89,050,036 (GRCm39) missense probably benign 0.41
R9195:Pklr UTSW 3 89,048,636 (GRCm39) missense probably damaging 1.00
Z1176:Pklr UTSW 3 89,052,162 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTGATGGACTGACAGTATG -3'
(R):5'- TAACAGAGGCTGTAGTGGGC -3'

Sequencing Primer
(F):5'- TGTGGGGACTGACAACCGAC -3'
(R):5'- GCTGTAGTGGGCATCCTTCC -3'
Posted On 2017-03-31