Incidental Mutation 'IGL03030:Pklr'
ID408369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pklr
Ensembl Gene ENSMUSG00000041237
Gene Namepyruvate kinase liver and red blood cell
SynonymsPk1, R-PK, Pk-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.329) question?
Stock #IGL03030
Quality Score
Status
Chromosome3
Chromosomal Location89136142-89146784 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89142656 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 313 (I313F)
Ref Sequence ENSEMBL: ENSMUSP00000103106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029686] [ENSMUST00000047111] [ENSMUST00000107482] [ENSMUST00000127058]
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: I344F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: I344F

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: I313F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: I313F

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
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,644 D246G probably damaging Het
4930452B06Rik A G 14: 8,511,113 S434P probably damaging Het
4931406B18Rik A G 7: 43,495,633 V367A possibly damaging Het
Abcb5 A T 12: 118,940,369 S200R possibly damaging Het
Adam29 T C 8: 55,873,065 D118G probably damaging Het
Adh4 A G 3: 138,429,145 D360G probably benign Het
Ankle2 A G 5: 110,251,610 Q611R possibly damaging Het
Ankra2 C T 13: 98,273,373 probably benign Het
Ap1g2 T A 14: 55,106,047 I28F probably damaging Het
Baz2a C T 10: 128,125,146 T1608I possibly damaging Het
C530008M17Rik A G 5: 76,857,616 D608G unknown Het
Cacnb4 T C 2: 52,474,882 D123G probably damaging Het
Cage1 G A 13: 38,028,147 T51M probably benign Het
Ccdc63 A G 5: 122,122,813 V216A probably benign Het
Ccnd2 A G 6: 127,148,878 V65A probably damaging Het
Chd3 T A 11: 69,354,404 T1163S possibly damaging Het
Cmbl A G 15: 31,589,677 probably benign Het
Cobl G T 11: 12,254,241 N813K possibly damaging Het
Cog5 G A 12: 31,790,922 V249M probably damaging Het
Cps1 A G 1: 67,142,921 N98S probably damaging Het
D630045J12Rik A T 6: 38,149,713 I1454N probably damaging Het
Elmo2 A G 2: 165,294,317 V603A possibly damaging Het
F12 A G 13: 55,421,519 probably benign Het
Ficd G A 5: 113,736,929 V20I probably benign Het
Gatad2b G T 3: 90,341,937 G94V probably benign Het
Gm4845 G A 1: 141,256,665 noncoding transcript Het
Hrnr G A 3: 93,320,601 V9I possibly damaging Het
Kifc3 A G 8: 95,102,412 S584P probably damaging Het
Klk1b24 C A 7: 44,191,366 Q73K probably benign Het
Lrp10 C A 14: 54,469,162 N518K possibly damaging Het
Lsr A G 7: 30,959,281 V247A possibly damaging Het
Mfsd6 A T 1: 52,709,703 M1K probably null Het
Mprip T A 11: 59,741,115 probably null Het
Myo3b G T 2: 70,426,816 probably benign Het
Olfr1019 T C 2: 85,841,072 T240A probably damaging Het
Olfr123 T A 17: 37,796,271 Y276N probably damaging Het
Olfr1463 C T 19: 13,235,054 S268L probably damaging Het
Olfr32 A T 2: 90,138,662 I159N possibly damaging Het
Olfr365 T C 2: 37,201,871 V210A probably benign Het
Oprd1 A G 4: 132,117,385 F104S possibly damaging Het
Palb2 A G 7: 122,113,256 V591A probably damaging Het
Pcdhb18 A T 18: 37,490,733 D372V probably damaging Het
Phc3 A G 3: 30,936,853 V405A probably damaging Het
Phf20l1 A T 15: 66,641,947 probably benign Het
Pik3ip1 A G 11: 3,333,259 K57E possibly damaging Het
Pkhd1l1 T C 15: 44,596,902 V4169A probably benign Het
Pkhd1l1 G A 15: 44,591,976 M4044I probably benign Het
Plxna4 T A 6: 32,202,225 T952S probably benign Het
Pop4 A T 7: 38,263,306 I178N probably damaging Het
Prss40 A C 1: 34,558,101 V122G probably damaging Het
Rapgef2 C A 3: 79,074,307 probably null Het
Rbm19 A G 5: 120,131,246 D538G probably damaging Het
Rnf44 G A 13: 54,681,990 R312* probably null Het
Rock1 T C 18: 10,070,215 probably benign Het
Rrp1b A G 17: 32,056,901 E474G probably damaging Het
Ryr2 T A 13: 11,684,479 I2959F probably damaging Het
Sidt2 A G 9: 45,939,505 S801P probably damaging Het
Skint6 T C 4: 113,012,956 I602V probably benign Het
Slc6a19 C A 13: 73,700,471 V55L probably damaging Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Trappc11 C A 8: 47,513,929 V440F probably damaging Het
Vmn1r236 G A 17: 21,286,846 W75* probably null Het
Vmn2r52 A G 7: 10,158,872 F780S probably benign Het
Vmn2r82 G T 10: 79,381,315 A494S possibly damaging Het
Vwa3b A T 1: 37,044,968 K74M probably damaging Het
Wrn T A 8: 33,248,961 I1037F possibly damaging Het
Zfp13 T C 17: 23,580,845 T82A probably benign Het
Zfp82 T C 7: 30,057,465 E64G probably benign Het
Other mutations in Pklr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Pklr APN 3 89144995 missense probably damaging 1.00
IGL02108:Pklr APN 3 89137403 missense probably damaging 1.00
IGL03401:Pklr APN 3 89142729 missense probably benign 0.41
R0088:Pklr UTSW 3 89141908 missense probably damaging 1.00
R0801:Pklr UTSW 3 89145522 nonsense probably null
R1061:Pklr UTSW 3 89144881 missense probably damaging 1.00
R1434:Pklr UTSW 3 89143035 missense probably damaging 1.00
R2030:Pklr UTSW 3 89143238 missense probably damaging 1.00
R2131:Pklr UTSW 3 89142660 missense probably damaging 1.00
R3703:Pklr UTSW 3 89142701 missense probably damaging 1.00
R4372:Pklr UTSW 3 89145523 nonsense probably null
R5279:Pklr UTSW 3 89143259 missense probably damaging 1.00
R5401:Pklr UTSW 3 89141866 missense probably damaging 1.00
R5809:Pklr UTSW 3 89141784 missense probably benign
R5946:Pklr UTSW 3 89136196 missense probably benign 0.43
R6331:Pklr UTSW 3 89137355 missense probably damaging 0.99
R7559:Pklr UTSW 3 89143058 missense probably damaging 1.00
R7711:Pklr UTSW 3 89141342 missense probably damaging 1.00
R7848:Pklr UTSW 3 89142978 missense possibly damaging 0.81
R7931:Pklr UTSW 3 89142978 missense possibly damaging 0.81
Z1176:Pklr UTSW 3 89144855 missense probably damaging 1.00
Posted On2016-08-02