Incidental Mutation 'R7559:Pklr'
ID 584928
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
MMRRC Submission 045653-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R7559 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 89043449-89054091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89050365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 405 (S405P)
Ref Sequence ENSEMBL: ENSMUSP00000035417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029686] [ENSMUST00000047111] [ENSMUST00000107482] [ENSMUST00000127058]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029686
SMART Domains Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
Pfam:Ion_trans_N 48 91 1.3e-22 PFAM
Pfam:Ion_trans 92 357 3.7e-25 PFAM
low complexity region 358 369 N/A INTRINSIC
Blast:cNMP 370 402 7e-14 BLAST
cNMP 427 540 2.32e-20 SMART
Blast:cNMP 548 588 2e-17 BLAST
low complexity region 636 656 N/A INTRINSIC
low complexity region 698 717 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000047111
AA Change: S405P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: S405P

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: S374P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: S374P

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
Meta Mutation Damage Score 0.9632 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (68/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C A 5: 139,265,295 (GRCm39) R206L probably damaging Het
Adcy3 A G 12: 4,248,440 (GRCm39) K501E probably benign Het
Agl T C 3: 116,545,764 (GRCm39) D679G Het
Ankrd10 A T 8: 11,662,548 (GRCm39) V395D probably damaging Het
Ano5 A G 7: 51,224,636 (GRCm39) I531V probably damaging Het
Apol9a T A 15: 77,288,761 (GRCm39) H202L possibly damaging Het
Atp6v1c2 A C 12: 17,351,215 (GRCm39) I105M probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Coro1b T C 19: 4,200,220 (GRCm39) probably null Het
D930020B18Rik A G 10: 121,492,131 (GRCm39) probably benign Het
Dcst2 T C 3: 89,276,021 (GRCm39) F384S possibly damaging Het
Ddx39a T A 8: 84,447,595 (GRCm39) F147I possibly damaging Het
Drosha A G 15: 12,842,508 (GRCm39) E393G probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fam20c G T 5: 138,778,954 (GRCm39) E287D possibly damaging Het
Flnc T A 6: 29,459,009 (GRCm39) D2463E probably damaging Het
Flt4 A T 11: 49,535,198 (GRCm39) I1209F possibly damaging Het
Foxp1 T C 6: 98,922,521 (GRCm39) D437G unknown Het
Fras1 T C 5: 96,888,713 (GRCm39) V2753A possibly damaging Het
Ftsj3 T C 11: 106,143,813 (GRCm39) D277G possibly damaging Het
Gad1 T C 2: 70,394,256 (GRCm39) probably null Het
Gal3st2c A G 1: 93,937,075 (GRCm39) Y340C probably damaging Het
Gbp9 A G 5: 105,232,975 (GRCm39) F226L probably damaging Het
Gm11992 C T 11: 9,002,747 (GRCm39) P37S possibly damaging Het
Gm19668 G T 10: 77,634,572 (GRCm39) C132* probably null Het
Hdac3 A T 18: 38,078,569 (GRCm39) F139I possibly damaging Het
Hectd4 A G 5: 121,453,573 (GRCm39) probably null Het
Helz T A 11: 107,491,104 (GRCm39) S162T possibly damaging Het
Hspb6 C A 7: 30,253,712 (GRCm39) S75Y probably damaging Het
Il17rb T A 14: 29,719,000 (GRCm39) I361F probably damaging Het
Iqsec3 A T 6: 121,364,739 (GRCm39) V850D probably damaging Het
Knl1 A G 2: 118,924,487 (GRCm39) E1840G possibly damaging Het
Lamc3 A G 2: 31,812,380 (GRCm39) K939R probably benign Het
Lmo7 C T 14: 102,124,662 (GRCm39) R496* probably null Het
Lsm14a A T 7: 34,052,826 (GRCm39) C374* probably null Het
Luc7l T C 17: 26,474,089 (GRCm39) L49P probably damaging Het
Mdga2 A C 12: 66,520,003 (GRCm39) C988G probably damaging Het
Mtf1 T C 4: 124,713,999 (GRCm39) V136A probably damaging Het
Myo7b T A 18: 32,116,413 (GRCm39) I1016F probably benign Het
Nadsyn1 C A 7: 143,361,804 (GRCm39) A306S probably benign Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Opcml A T 9: 28,814,620 (GRCm39) T291S probably benign Het
Or13a24 T A 7: 140,154,356 (GRCm39) C97S probably damaging Het
Or52u1 C A 7: 104,237,087 (GRCm39) H25Q probably damaging Het
Or56b1b C T 7: 108,164,763 (GRCm39) A80T probably damaging Het
Osbp2 C G 11: 3,662,493 (GRCm39) K196N probably damaging Het
Otoa T C 7: 120,743,149 (GRCm39) V792A probably damaging Het
Pcmtd1 A G 1: 7,239,766 (GRCm39) D245G probably damaging Het
Pcnx1 T C 12: 82,039,896 (GRCm39) V1428A unknown Het
Pik3r4 A G 9: 105,555,352 (GRCm39) H1103R probably benign Het
Pjvk C T 2: 76,486,154 (GRCm39) H185Y probably benign Het
Pkd1l3 T C 8: 110,351,072 (GRCm39) V639A probably benign Het
Pla2g12a T A 3: 129,672,569 (GRCm39) Y68N probably damaging Het
Proz A G 8: 13,113,455 (GRCm39) H92R probably benign Het
Sec23ip G T 7: 128,379,074 (GRCm39) V844F possibly damaging Het
Sema3f A G 9: 107,561,777 (GRCm39) V520A possibly damaging Het
Serpinb12 A G 1: 106,881,453 (GRCm39) I197V probably damaging Het
Sim2 A T 16: 93,910,218 (GRCm39) I207F possibly damaging Het
Slc15a2 C T 16: 36,572,259 (GRCm39) V702I probably benign Het
Slc35f4 T C 14: 49,541,732 (GRCm39) I341V probably benign Het
Spam1 A G 6: 24,800,452 (GRCm39) Y397C probably damaging Het
Spire1 A T 18: 67,634,187 (GRCm39) M417K probably benign Het
Srcap T C 7: 127,129,722 (GRCm39) S515P unknown Het
Tfrc T A 16: 32,440,235 (GRCm39) probably null Het
Topors A G 4: 40,261,401 (GRCm39) S628P unknown Het
Trim71 T C 9: 114,342,110 (GRCm39) Y724C probably damaging Het
Ttn C T 2: 76,623,199 (GRCm39) V15413I probably damaging Het
Vmn1r21 A T 6: 57,821,227 (GRCm39) N72K probably damaging Het
Vmn2r80 A T 10: 79,030,459 (GRCm39) M762L probably benign Het
Wdr62 A G 7: 29,970,198 (GRCm39) I203T 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
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
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'- CTCAGTGTAACCATGGCAATCTAAG -3'
(R):5'- CAAACAACTGGCGGTGGTAC -3'

Sequencing Primer
(F):5'- CAATCTAAGAGTGCAGGTGTTAGAG -3'
(R):5'- TGGTACACAGCGGCCTCTG -3'
Posted On 2019-10-17