Incidental Mutation 'R8898:Hk2'
ID 678170
Institutional Source Beutler Lab
Gene Symbol Hk2
Ensembl Gene ENSMUSG00000000628
Gene Name hexokinase 2
Synonyms HKII
MMRRC Submission 068755-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8898 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 82702006-82751435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82715379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 385 (L385Q)
Ref Sequence ENSEMBL: ENSMUSP00000000642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000642] [ENSMUST00000170833]
AlphaFold O08528
Predicted Effect probably damaging
Transcript: ENSMUST00000000642
AA Change: L385Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: L385Q

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 damaging
Transcript: ENSMUST00000170833
AA Change: L357Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: L357Q

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,383,001 (GRCm39) L988* probably null Het
4930546C10Rik A G 18: 69,083,106 (GRCm39) F36S unknown Het
Acan C A 7: 78,750,101 (GRCm39) T1624K possibly damaging Het
Ambn T C 5: 88,613,051 (GRCm39) probably null Het
Ankrd24 T C 10: 81,478,352 (GRCm39) I437T unknown Het
Arl4d C T 11: 101,557,827 (GRCm39) R118W probably damaging Het
Atg2a A G 19: 6,306,721 (GRCm39) probably benign Het
Bcan T C 3: 87,895,695 (GRCm39) T814A probably benign Het
Brca2 T A 5: 150,492,498 (GRCm39) M3171K possibly damaging Het
Cd209a T A 8: 3,798,739 (GRCm39) S23C probably damaging Het
Chek2 A T 5: 111,011,175 (GRCm39) K324N probably benign Het
Col12a1 C T 9: 79,599,577 (GRCm39) V859I probably benign Het
Cyp7b1 C T 3: 18,150,788 (GRCm39) R317H probably benign Het
Dmxl2 A G 9: 54,308,941 (GRCm39) S1937P probably benign Het
Epb41l1 T G 2: 156,335,869 (GRCm39) V11G probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Fat3 G A 9: 15,858,822 (GRCm39) P3798L probably benign Het
Foxd1 T A 13: 98,491,596 (GRCm39) C157S probably damaging Het
Gja10 T C 4: 32,601,058 (GRCm39) Q442R probably benign Het
Gm17019 A C 5: 15,081,798 (GRCm39) M47R possibly damaging Het
Gpr179 C A 11: 97,242,329 (GRCm39) E172* probably null Het
Grhl1 G A 12: 24,634,945 (GRCm39) probably null Het
Gtf2ird2 A T 5: 134,226,106 (GRCm39) E184V probably benign Het
Hace1 A G 10: 45,576,766 (GRCm39) I813V probably benign Het
Htt C T 5: 34,976,376 (GRCm39) T726I probably benign Het
Itga8 T C 2: 12,145,206 (GRCm39) S916G probably benign Het
Jag1 A T 2: 136,935,175 (GRCm39) F396I probably damaging Het
Kif16b A G 2: 142,554,899 (GRCm39) M633T possibly damaging Het
Klf5 T A 14: 99,538,922 (GRCm39) F112I probably damaging Het
Lama1 A T 17: 68,128,610 (GRCm39) Q2989L Het
Lrrc28 C A 7: 67,278,042 (GRCm39) probably null Het
Map4k5 T C 12: 69,859,931 (GRCm39) T739A possibly damaging Het
Mbd3l2 A T 9: 18,355,914 (GRCm39) R80* probably null Het
Mctp2 T C 7: 71,752,904 (GRCm39) E783G probably damaging Het
Mill2 A T 7: 18,590,489 (GRCm39) M190L probably benign Het
N4bp3 T C 11: 51,535,256 (GRCm39) N311S probably benign Het
Nanos2 A T 7: 18,721,549 (GRCm39) D7V probably damaging Het
Ndufs7 T A 10: 80,089,619 (GRCm39) probably null Het
Nexn T C 3: 151,948,306 (GRCm39) N483S probably benign Het
Nlrp1b T G 11: 71,073,288 (GRCm39) E185A probably damaging Het
Nop2 C A 6: 125,114,118 (GRCm39) Q195K probably benign Het
Or4a15 A G 2: 89,192,957 (GRCm39) V272A possibly damaging Het
Or4n4 G A 14: 50,518,952 (GRCm39) P253S probably damaging Het
Pde12 G A 14: 26,390,577 (GRCm39) S44L probably benign Het
Pde1c A T 6: 56,114,371 (GRCm39) V514E probably damaging Het
Pdzph1 A T 17: 59,281,334 (GRCm39) V316D probably benign Het
Prl3c1 A T 13: 27,387,578 (GRCm39) I208F possibly damaging Het
Raver2 G A 4: 100,964,399 (GRCm39) probably null Het
Rpl13a-ps1 T A 19: 50,018,747 (GRCm39) H143L probably benign Het
Septin14 A T 5: 129,760,642 (GRCm39) I402K possibly damaging Het
Sla2 T A 2: 156,717,885 (GRCm39) Y129F possibly damaging Het
Smarca2 TGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCA 19: 26,608,358 (GRCm39) probably benign Het
Sorl1 A G 9: 41,911,567 (GRCm39) S1448P probably damaging Het
Spast G A 17: 74,695,273 (GRCm39) R604H probably damaging Het
Speg G A 1: 75,365,517 (GRCm39) G633S probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Syt11 T C 3: 88,669,335 (GRCm39) M186V probably benign Het
Tex26 C A 5: 149,380,369 (GRCm39) N133K probably benign Het
Tnfrsf17 T C 16: 11,131,910 (GRCm39) C32R probably damaging Het
Trem1 T A 17: 48,544,374 (GRCm39) V133E probably damaging Het
Trpm7 A T 2: 126,664,661 (GRCm39) M906K possibly damaging Het
Ugt2b35 T A 5: 87,159,189 (GRCm39) I461K possibly damaging Het
Vmn2r77 T A 7: 86,444,430 (GRCm39) C28S probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) 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
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
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'- GCTGCCTTCAGAAAGCAATCC -3'
(R):5'- TGGCCACAGTGAATTCAACAC -3'

Sequencing Primer
(F):5'- GACTGGAGAACACTTATGCTGTC -3'
(R):5'- GTGAATTCAACACTGCTCACAC -3'
Posted On 2021-08-02