Incidental Mutation 'R5552:Hk2'
ID 435175
Institutional Source Beutler Lab
Gene Symbol Hk2
Ensembl Gene ENSMUSG00000000628
Gene Name hexokinase 2
Synonyms HKII
MMRRC Submission 043109-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5552 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 82702006-82751435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 82707804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 694 (R694S)
Ref Sequence ENSEMBL: ENSMUSP00000125986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000642] [ENSMUST00000170833]
AlphaFold O08528
Predicted Effect probably benign
Transcript: ENSMUST00000000642
AA Change: R722S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: R722S

DomainStartEndE-ValueType
Pfam:Hexokinase_1 21 220 9.8e-78 PFAM
Pfam:Hexokinase_2 225 459 4.9e-85 PFAM
Pfam:Hexokinase_1 469 668 6.4e-80 PFAM
Pfam:Hexokinase_2 673 907 8.7e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168725
Predicted Effect possibly damaging
Transcript: ENSMUST00000170833
AA Change: R694S

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: R694S

DomainStartEndE-ValueType
Pfam:Hexokinase_1 1 193 5.5e-89 PFAM
Pfam:Hexokinase_2 195 434 5.3e-107 PFAM
Pfam:Hexokinase_1 436 641 5.9e-91 PFAM
Pfam:Hexokinase_2 643 882 1.3e-109 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]
PHENOTYPE: Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,813,530 (GRCm39) Y403H probably benign Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Arhgap19 T C 19: 41,772,819 (GRCm39) I291M probably benign Het
Blzf1 A T 1: 164,130,058 (GRCm39) I91N probably damaging Het
Cdh2 T C 18: 16,773,520 (GRCm39) T270A possibly damaging Het
Chd5 T A 4: 152,470,272 (GRCm39) M1906K possibly damaging Het
Cpsf1 T C 15: 76,483,846 (GRCm39) D799G probably benign Het
Csnk1g3 T C 18: 54,065,355 (GRCm39) F313L probably benign Het
Cyfip1 T C 7: 55,521,855 (GRCm39) V53A possibly damaging Het
Dcst1 T C 3: 89,272,373 (GRCm39) D30G probably benign Het
Dlgap2 G T 8: 14,881,342 (GRCm39) G805* probably null Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Epha8 T C 4: 136,659,210 (GRCm39) N843S probably damaging Het
Evi5 A T 5: 107,966,855 (GRCm39) V222E probably damaging Het
Gli1 C A 10: 127,166,131 (GRCm39) A1041S probably benign Het
Glipr1l1 A T 10: 111,898,243 (GRCm39) Q116L probably benign Het
H3c4 A G 13: 23,760,295 (GRCm39) D107G probably damaging Het
Hectd4 T A 5: 121,480,914 (GRCm39) L2985Q possibly damaging Het
Htt A G 5: 34,979,118 (GRCm39) M834V probably benign Het
Itpr2 A G 6: 146,195,578 (GRCm39) Y1600H probably benign Het
Med1 A T 11: 98,057,157 (GRCm39) Y340* probably null Het
Mov10l1 T A 15: 88,938,569 (GRCm39) probably null Het
Mrc1 T C 2: 14,284,768 (GRCm39) F586L probably benign Het
Mrrf T A 2: 36,037,973 (GRCm39) D81E possibly damaging Het
Nod1 A G 6: 54,921,616 (GRCm39) F234S probably damaging Het
Odad2 A G 18: 7,285,360 (GRCm39) V267A possibly damaging Het
Or10ak9 T A 4: 118,726,665 (GRCm39) I228N probably damaging Het
Or6c69c T C 10: 129,911,014 (GRCm39) V245A probably damaging Het
Pde4a T C 9: 21,112,682 (GRCm39) V343A probably damaging Het
Pmfbp1 T A 8: 110,258,383 (GRCm39) L649Q probably damaging Het
Polq A G 16: 36,914,872 (GRCm39) I2511V possibly damaging Het
Pramel51 T A 12: 88,145,135 (GRCm39) T64S probably benign Het
Serac1 T A 17: 6,106,967 (GRCm39) R361* probably null Het
Serpina3g T C 12: 104,206,595 (GRCm39) V132A probably damaging Het
Thada A C 17: 84,736,558 (GRCm39) S908A probably benign Het
Zfp280b C T 10: 75,875,497 (GRCm39) Q459* probably null Het
Other mutations in Hk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Hk2 APN 6 82,706,533 (GRCm39) missense possibly damaging 0.93
IGL01484:Hk2 APN 6 82,713,711 (GRCm39) missense probably damaging 1.00
IGL01786:Hk2 APN 6 82,716,534 (GRCm39) missense probably benign 0.13
IGL02164:Hk2 APN 6 82,720,920 (GRCm39) splice site probably null
IGL02293:Hk2 APN 6 82,720,956 (GRCm39) missense probably benign 0.00
IGL02861:Hk2 APN 6 82,737,139 (GRCm39) missense possibly damaging 0.73
IGL03029:Hk2 APN 6 82,715,314 (GRCm39) missense probably damaging 1.00
IGL03063:Hk2 APN 6 82,726,213 (GRCm39) missense probably benign 0.23
IGL03063:Hk2 APN 6 82,716,630 (GRCm39) missense probably damaging 1.00
IGL02799:Hk2 UTSW 6 82,737,219 (GRCm39) missense probably damaging 1.00
PIT4243001:Hk2 UTSW 6 82,707,858 (GRCm39) missense probably damaging 1.00
R0069:Hk2 UTSW 6 82,713,509 (GRCm39) critical splice donor site probably null
R0081:Hk2 UTSW 6 82,711,957 (GRCm39) splice site probably benign
R0981:Hk2 UTSW 6 82,720,949 (GRCm39) missense probably damaging 1.00
R1234:Hk2 UTSW 6 82,737,229 (GRCm39) missense possibly damaging 0.95
R1239:Hk2 UTSW 6 82,726,289 (GRCm39) missense probably damaging 1.00
R1695:Hk2 UTSW 6 82,721,932 (GRCm39) missense probably damaging 0.99
R1891:Hk2 UTSW 6 82,726,264 (GRCm39) missense probably benign 0.01
R2338:Hk2 UTSW 6 82,708,096 (GRCm39) missense probably damaging 1.00
R3854:Hk2 UTSW 6 82,713,657 (GRCm39) missense possibly damaging 0.87
R3855:Hk2 UTSW 6 82,713,657 (GRCm39) missense possibly damaging 0.87
R3856:Hk2 UTSW 6 82,713,657 (GRCm39) missense possibly damaging 0.87
R3887:Hk2 UTSW 6 82,711,942 (GRCm39) missense possibly damaging 0.72
R4382:Hk2 UTSW 6 82,712,322 (GRCm39) missense probably null 1.00
R4684:Hk2 UTSW 6 82,716,629 (GRCm39) missense probably damaging 1.00
R4705:Hk2 UTSW 6 82,716,631 (GRCm39) missense possibly damaging 0.95
R4735:Hk2 UTSW 6 82,721,955 (GRCm39) missense probably benign 0.40
R5014:Hk2 UTSW 6 82,720,936 (GRCm39) missense possibly damaging 0.73
R5914:Hk2 UTSW 6 82,713,615 (GRCm39) missense probably benign
R6212:Hk2 UTSW 6 82,705,823 (GRCm39) missense probably benign 0.02
R6276:Hk2 UTSW 6 82,720,347 (GRCm39) missense probably benign 0.05
R6369:Hk2 UTSW 6 82,713,734 (GRCm39) missense probably damaging 1.00
R7175:Hk2 UTSW 6 82,711,830 (GRCm39) missense probably benign 0.00
R7340:Hk2 UTSW 6 82,705,873 (GRCm39) missense probably benign 0.00
R7383:Hk2 UTSW 6 82,726,276 (GRCm39) missense probably damaging 1.00
R7417:Hk2 UTSW 6 82,720,326 (GRCm39) missense probably damaging 1.00
R7481:Hk2 UTSW 6 82,737,150 (GRCm39) missense probably benign 0.09
R7495:Hk2 UTSW 6 82,704,346 (GRCm39) missense probably damaging 1.00
R7757:Hk2 UTSW 6 82,719,896 (GRCm39) missense possibly damaging 0.88
R8023:Hk2 UTSW 6 82,705,790 (GRCm39) missense probably benign 0.00
R8100:Hk2 UTSW 6 82,707,859 (GRCm39) missense probably benign 0.14
R8385:Hk2 UTSW 6 82,706,527 (GRCm39) missense probably benign 0.03
R8504:Hk2 UTSW 6 82,721,847 (GRCm39) missense possibly damaging 0.84
R8695:Hk2 UTSW 6 82,716,627 (GRCm39) missense probably benign 0.02
R8808:Hk2 UTSW 6 82,705,747 (GRCm39) missense probably benign 0.01
R8898:Hk2 UTSW 6 82,715,379 (GRCm39) missense probably damaging 0.98
R9037:Hk2 UTSW 6 82,720,339 (GRCm39) missense probably benign 0.39
R9474:Hk2 UTSW 6 82,705,895 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCTTTGAAGGAGAAGCCCATTAGG -3'
(R):5'- GACTATTGATCCTCCCCTGGTG -3'

Sequencing Primer
(F):5'- TTAGGCTCCTAAGAGAACAGGCATTC -3'
(R):5'- CATGGCTCTGGATGGGTGGAAG -3'
Posted On 2016-10-24