Incidental Mutation 'R0081:Hk2'
ID 19671
Institutional Source Beutler Lab
Gene Symbol Hk2
Ensembl Gene ENSMUSG00000000628
Gene Name hexokinase 2
Synonyms HKII
MMRRC Submission 038368-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0081 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 82702006-82751435 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 82711957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000642] [ENSMUST00000170833]
AlphaFold O08528
Predicted Effect probably benign
Transcript: ENSMUST00000000642
SMART Domains Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628

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 probably benign
Transcript: ENSMUST00000170833
SMART Domains Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628

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: 99.0%
  • 3x: 97.2%
  • 10x: 88.5%
  • 20x: 63.6%
Validation Efficiency 94% (159/169)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,703 (GRCm39) D485G probably damaging Het
Adamts19 T C 18: 59,036,137 (GRCm39) probably null Het
Adgrd1 A T 5: 129,255,146 (GRCm39) I598F probably damaging Het
Adh5 A G 3: 138,157,174 (GRCm39) D245G probably benign Het
Adra2b T C 2: 127,206,212 (GRCm39) V238A probably benign Het
Ank1 G A 8: 23,606,258 (GRCm39) V1188I possibly damaging Het
Asap1 C T 15: 63,971,413 (GRCm39) G905D probably damaging Het
AW554918 T C 18: 25,477,959 (GRCm39) V428A probably benign Het
Birc6 T A 17: 74,950,436 (GRCm39) S3226T probably benign Het
Cdh17 A T 4: 11,785,280 (GRCm39) probably benign Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Dcaf17 T A 2: 70,908,812 (GRCm39) probably benign Het
Dclre1a A G 19: 56,531,139 (GRCm39) F736L probably damaging Het
Ddx41 A T 13: 55,683,193 (GRCm39) H171Q possibly damaging Het
Dennd5b G T 6: 148,895,257 (GRCm39) Q1258K probably benign Het
Dock10 T C 1: 80,584,295 (GRCm39) D137G probably damaging Het
Dpyd G A 3: 118,737,904 (GRCm39) V482I probably benign Het
Erich6 A T 3: 58,543,547 (GRCm39) probably benign Het
Fam193b A G 13: 55,702,024 (GRCm39) probably benign Het
Foxp2 T C 6: 15,405,643 (GRCm39) probably benign Het
Frmd4a T C 2: 4,577,252 (GRCm39) probably null Het
Gas2l2 A G 11: 83,313,693 (GRCm39) S540P possibly damaging Het
Glis2 T C 16: 4,431,517 (GRCm39) V348A probably benign Het
Gm14443 C A 2: 175,011,729 (GRCm39) G239V probably damaging Het
Gpr158 T C 2: 21,831,528 (GRCm39) V876A probably damaging Het
H1f8 A G 6: 115,926,942 (GRCm39) E273G probably benign Het
Hadh C T 3: 131,029,285 (GRCm39) D245N probably damaging Het
Ice1 A T 13: 70,767,163 (GRCm39) Y108* probably null Het
Il10ra T G 9: 45,167,247 (GRCm39) M435L probably benign Het
Inpp5k GT G 11: 75,521,973 (GRCm39) probably null Het
Kank4 G T 4: 98,666,567 (GRCm39) P627T probably benign Het
Kif16b A G 2: 142,549,346 (GRCm39) probably benign Het
Lipn A G 19: 34,054,376 (GRCm39) I205V probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myh1 T C 11: 67,106,683 (GRCm39) M1255T probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1d T G 11: 80,448,349 (GRCm39) K925N probably benign Het
Myoz1 T A 14: 20,699,622 (GRCm39) M239L probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nf1 C A 11: 79,344,805 (GRCm39) probably benign Het
Npepl1 C T 2: 173,957,879 (GRCm39) P239S probably damaging Het
Olfml1 A G 7: 107,170,506 (GRCm39) K131R probably benign Het
Or12k5 G A 2: 36,895,462 (GRCm39) L55F probably damaging Het
Or1e29 A G 11: 73,667,935 (GRCm39) F73L possibly damaging Het
Or1j15 T A 2: 36,458,893 (GRCm39) Y94* probably null Het
Or1j20 T C 2: 36,760,022 (GRCm39) L148S possibly damaging Het
Or4c10 T A 2: 89,760,423 (GRCm39) I90K possibly damaging Het
Or4f7 A C 2: 111,644,213 (GRCm39) I286S probably damaging Het
Or5p52 C T 7: 107,502,212 (GRCm39) T96I probably benign Het
Or6c202 C T 10: 128,996,707 (GRCm39) D49N possibly damaging Het
Pde7a T C 3: 19,295,697 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,903,519 (GRCm39) C591R probably benign Het
Pkn2 T G 3: 142,559,343 (GRCm39) K61Q probably damaging Het
Ppfia1 C A 7: 144,058,711 (GRCm39) G722C probably damaging Het
Ppp1cb T C 5: 32,644,958 (GRCm39) V263A probably damaging Het
Rab11fip2 A T 19: 59,895,567 (GRCm39) N440K possibly damaging Het
Rbm34 T A 8: 127,676,234 (GRCm39) K340N probably damaging Het
Samd3 T C 10: 26,147,399 (GRCm39) probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sigirr T C 7: 140,671,285 (GRCm39) D399G probably damaging Het
Slc17a7 A G 7: 44,824,371 (GRCm39) E554G probably benign Het
Smc3 A G 19: 53,589,993 (GRCm39) probably benign Het
Tdrd1 T C 19: 56,819,703 (GRCm39) Y68H probably benign Het
Tespa1 T A 10: 130,196,719 (GRCm39) L219Q probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Ttc38 A G 15: 85,740,673 (GRCm39) S436G probably benign Het
Ttn T A 2: 76,581,423 (GRCm39) I23157F probably damaging Het
Ubxn2b T A 4: 6,203,875 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r72 T C 7: 85,401,044 (GRCm39) E125G probably benign Het
Vmn2r78 A T 7: 86,572,235 (GRCm39) D532V probably benign Het
Vwa8 C A 14: 79,320,222 (GRCm39) L1078I probably benign Het
Vwce A T 19: 10,641,453 (GRCm39) probably null Het
Zpr1 A G 9: 46,190,995 (GRCm39) D300G probably damaging 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
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'- AGCTTAGGGTTGAGGAAGCCCATAG -3'
(R):5'- AACAAACTTCCGGGTCCTGCTG -3'

Sequencing Primer
(F):5'- TAGGAGAGCCCTCCCAGAAG -3'
(R):5'- TCTGGGATGATTCAGCGACC -3'
Posted On 2013-04-11