Incidental Mutation 'IGL02799:Hk2'
ID 392268
Institutional Source Beutler Lab
Gene Symbol Hk2
Ensembl Gene ENSMUSG00000000628
Gene Name hexokinase 2
Synonyms HKII
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02799 (G1)
Quality Score 196
Status Validated
Chromosome 6
Chromosomal Location 82702006-82751435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82737219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 3 (L3P)
Ref Sequence ENSEMBL: ENSMUSP00000128572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000642] [ENSMUST00000169270] [ENSMUST00000170833]
AlphaFold O08528
Predicted Effect probably damaging
Transcript: ENSMUST00000000642
AA Change: L31P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: L31P

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: ENSMUST00000168990
Predicted Effect probably damaging
Transcript: ENSMUST00000169270
AA Change: L3P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000170833
AA Change: L3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: L3P

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 0.9356 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G 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
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
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'- CAGTTCAGAGATTCTTGGGACAG -3'
(R):5'- AACTGCTGGCTCAAGAGAACAC -3'

Sequencing Primer
(F):5'- GAGATTCTTGGGACAGTTAACACAC -3'
(R):5'- ACAGGGTCTTACGGTGTTGCC -3'
Posted On 2016-06-09