Incidental Mutation 'IGL02108:Pklr'
ID 280036
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02108
Quality Score
Status
Chromosome 3
Chromosomal Location 89043449-89054091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89044710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 63 (I63F)
Ref Sequence ENSEMBL: ENSMUSP00000103106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047111] [ENSMUST00000107482] [ENSMUST00000127058]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047111
AA Change: I94F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: I94F

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 damaging
Transcript: ENSMUST00000107482
AA Change: I63F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: I63F

DomainStartEndE-ValueType
Pfam:PK 54 407 3.1e-163 PFAM
Pfam:PK_C 421 541 4.9e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127058
AA Change: I30F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119392
Gene: ENSMUSG00000041237
AA Change: I30F

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,325,346 (GRCm39) I369M probably damaging Het
Aff1 T G 5: 103,958,975 (GRCm39) probably null Het
Arid1a G T 4: 133,407,827 (GRCm39) P2227T unknown Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Auh T C 13: 53,043,133 (GRCm39) probably benign Het
Bptf C A 11: 106,965,814 (GRCm39) V1012L probably benign Het
Cbr1 T C 16: 93,407,087 (GRCm39) F268L probably benign Het
Ccdc190 A G 1: 169,761,555 (GRCm39) D219G probably damaging Het
Ccnb1 C T 13: 100,917,665 (GRCm39) probably null Het
Cdh19 G T 1: 110,817,461 (GRCm39) S760R probably benign Het
Cecr2 G A 6: 120,739,519 (GRCm39) probably null Het
Chid1 A T 7: 141,112,841 (GRCm39) M1K probably null Het
Dzank1 T C 2: 144,348,143 (GRCm39) T208A probably benign Het
Ecm2 T A 13: 49,671,920 (GRCm39) Y140* probably null Het
Enox2 A G X: 48,102,393 (GRCm39) L533S possibly damaging Het
Fntb A G 12: 76,934,631 (GRCm39) E167G possibly damaging Het
Gpihbp1 T C 15: 75,469,461 (GRCm39) V92A probably benign Het
Grsf1 C T 5: 88,813,762 (GRCm39) R329Q probably benign Het
Gtpbp4 T A 13: 9,035,249 (GRCm39) D370V probably benign Het
H2ac4 T C 13: 23,935,207 (GRCm39) V31A probably benign Het
Klhl14 T A 18: 21,690,977 (GRCm39) Y491F probably damaging Het
Lamb3 A T 1: 193,014,530 (GRCm39) Q563L probably damaging Het
Lcn2 A T 2: 32,277,617 (GRCm39) L124Q probably damaging Het
Mbl1 T C 14: 40,875,608 (GRCm39) S21P possibly damaging Het
Myrip G A 9: 120,296,631 (GRCm39) probably null Het
Nmur2 T C 11: 55,931,190 (GRCm39) T174A probably benign Het
Odf1 C A 15: 38,226,623 (GRCm39) Y174* probably null Het
Optn A G 2: 5,036,084 (GRCm39) V466A possibly damaging Het
Or5m12 A T 2: 85,734,494 (GRCm39) D301E possibly damaging Het
Or8b9 T A 9: 37,766,234 (GRCm39) V40E possibly damaging Het
Or8g54 A T 9: 39,706,808 (GRCm39) I46F probably damaging Het
Pde9a G A 17: 31,680,667 (GRCm39) S316N probably benign Het
Phf3 A T 1: 30,869,032 (GRCm39) I672K probably damaging Het
Plet1 T C 9: 50,410,387 (GRCm39) probably benign Het
Pp2d1 T A 17: 53,822,433 (GRCm39) D211V probably damaging Het
Ppp6r3 A T 19: 3,542,494 (GRCm39) W384R probably damaging Het
Prdm11 T C 2: 92,806,048 (GRCm39) I301V probably damaging Het
Prkar1a C T 11: 109,558,351 (GRCm39) R357C probably damaging Het
Ptchd1 T C X: 154,356,548 (GRCm39) T886A probably damaging Het
Ptpre A T 7: 135,260,831 (GRCm39) E156V possibly damaging Het
Ptprq T C 10: 107,482,478 (GRCm39) T1032A probably damaging Het
Rras2 A G 7: 113,659,623 (GRCm39) I47T probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T A 10: 58,971,650 (GRCm39) V826E probably damaging Het
Tmem127 T A 2: 127,099,026 (GRCm39) S132T probably damaging Het
Tnrc6c C A 11: 117,612,025 (GRCm39) P221Q probably benign Het
Tstd3 A T 4: 21,759,366 (GRCm39) probably benign Het
Usp46 T G 5: 74,189,867 (GRCm39) T55P probably damaging Het
Other mutations in Pklr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Pklr APN 3 89,052,302 (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
R5946:Pklr UTSW 3 89,043,503 (GRCm39) missense probably benign 0.43
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
Posted On 2015-04-16