Incidental Mutation 'R3856:Hk2'
ID 276157
Institutional Source Beutler Lab
Gene Symbol Hk2
Ensembl Gene ENSMUSG00000000628
Gene Name hexokinase 2
Synonyms HKII
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3856 (G1)
Quality Score 164
Status Validated
Chromosome 6
Chromosomal Location 82702006-82751435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82713657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 447 (E447G)
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: E475G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: E475G

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 possibly damaging
Transcript: ENSMUST00000170833
AA Change: E447G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: E447G

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
Meta Mutation Damage Score 0.1254 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Atxn7l1 A G 12: 33,417,599 (GRCm39) T587A probably damaging Het
Atxn7l3 T C 11: 102,184,729 (GRCm39) D128G probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eef2k T A 7: 120,498,594 (GRCm39) C91* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbxo40 A T 16: 36,789,445 (GRCm39) L555Q probably damaging Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr171 T C 3: 59,005,506 (GRCm39) T90A probably damaging Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Pudp T C 18: 50,701,124 (GRCm39) N203S probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc4a4 A C 5: 89,380,698 (GRCm39) S1015R probably benign Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P probably benign 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
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
R5552:Hk2 UTSW 6 82,707,804 (GRCm39) missense possibly damaging 0.87
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'- ATTCAAGGTGGTCCTGTACAG -3'
(R):5'- TGTCACAGTTTTGCCAAGCG -3'

Sequencing Primer
(F):5'- TAAGCACATCAGGGGTTTCC -3'
(R):5'- TTGCCAAGCGTCTCCATAAGG -3'
Posted On 2015-04-06