Incidental Mutation 'R1158:Adpgk'
ID 101894
Institutional Source Beutler Lab
Gene Symbol Adpgk
Ensembl Gene ENSMUSG00000025236
Gene Name ADP-dependent glucokinase
Synonyms 2610017G09Rik
MMRRC Submission 039231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1158 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 59198855-59223483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59217566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 193 (V193A)
Ref Sequence ENSEMBL: ENSMUSP00000149882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026266] [ENSMUST00000217570]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026266
AA Change: V193A

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026266
Gene: ENSMUSG00000025236
AA Change: V193A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ADP_PFK_GK 73 490 1.9e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215994
Predicted Effect possibly damaging
Transcript: ENSMUST00000217570
AA Change: V193A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.6026 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A C 19: 8,991,290 (GRCm39) E4191D probably benign Het
BC024139 T A 15: 76,004,542 (GRCm39) probably benign Het
Bpifb9a T G 2: 154,104,184 (GRCm39) I209S probably benign Het
Bst1 T G 5: 43,997,834 (GRCm39) probably null Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Carf A G 1: 60,186,998 (GRCm39) K499E probably benign Het
Casq2 A G 3: 102,024,199 (GRCm39) E147G probably damaging Het
Cd8a T A 6: 71,350,712 (GRCm39) V59D probably damaging Het
Chrm5 T C 2: 112,310,214 (GRCm39) T301A probably benign Het
Cog5 G A 12: 31,920,056 (GRCm39) probably benign Het
Csmd3 T C 15: 48,156,170 (GRCm39) probably null Het
Dop1a T C 9: 86,367,609 (GRCm39) S31P probably damaging Het
Eif1ad9 A T 12: 88,296,438 (GRCm39) I139F unknown Het
Epb41 T C 4: 131,727,502 (GRCm39) probably benign Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Gdpgp1 T C 7: 79,888,250 (GRCm39) F94L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Htr3b T C 9: 48,847,390 (GRCm39) K375R possibly damaging Het
Inhbe G A 10: 127,187,186 (GRCm39) R77W probably damaging Het
Itgb8 T C 12: 119,166,231 (GRCm39) E100G probably damaging Het
Jakmip1 T C 5: 37,248,472 (GRCm39) V44A possibly damaging Het
Lrp12 A G 15: 39,741,827 (GRCm39) V315A probably damaging Het
Lrp1b T A 2: 40,567,506 (GRCm39) T305S unknown Het
Map3k2 A G 18: 32,350,211 (GRCm39) T354A probably benign Het
Mmp16 T C 4: 17,987,726 (GRCm39) probably null Het
Mphosph10 T C 7: 64,038,607 (GRCm39) probably benign Het
Or10a48 A G 7: 108,424,385 (GRCm39) S274P probably damaging Het
Or10ak7 A T 4: 118,791,614 (GRCm39) C144S probably damaging Het
Or4c52 T A 2: 89,845,598 (GRCm39) I108N possibly damaging Het
Or4k47 T C 2: 111,452,086 (GRCm39) E111G probably damaging Het
Or5p52 G A 7: 107,502,130 (GRCm39) V69I possibly damaging Het
Slc43a3 C A 2: 84,768,140 (GRCm39) F37L probably benign Het
Slf2 G T 19: 44,919,855 (GRCm39) A36S probably damaging Het
Sorcs1 T C 19: 50,132,598 (GRCm39) probably benign Het
Thsd7b A C 1: 130,117,672 (GRCm39) probably null Het
Tnfrsf18 A C 4: 156,112,739 (GRCm39) I142L probably benign Het
Ttn A G 2: 76,632,855 (GRCm39) probably benign Het
Tufm T A 7: 126,088,614 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,059,058 (GRCm39) probably benign Het
Zfp385c T C 11: 100,520,709 (GRCm39) probably benign Het
Zfp964 T A 8: 70,116,503 (GRCm39) C368S unknown Het
Zswim8 G A 14: 20,771,736 (GRCm39) probably benign Het
Other mutations in Adpgk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03129:Adpgk APN 9 59,221,088 (GRCm39) missense probably damaging 1.00
PIT4531001:Adpgk UTSW 9 59,217,600 (GRCm39) missense probably damaging 1.00
R1103:Adpgk UTSW 9 59,221,079 (GRCm39) missense probably damaging 1.00
R1857:Adpgk UTSW 9 59,222,248 (GRCm39) missense probably benign 0.00
R2363:Adpgk UTSW 9 59,222,136 (GRCm39) missense probably benign
R2483:Adpgk UTSW 9 59,221,036 (GRCm39) missense probably benign 0.03
R3623:Adpgk UTSW 9 59,221,036 (GRCm39) missense probably benign 0.03
R4549:Adpgk UTSW 9 59,217,511 (GRCm39) missense probably damaging 1.00
R5124:Adpgk UTSW 9 59,222,561 (GRCm39) missense possibly damaging 0.85
R5426:Adpgk UTSW 9 59,204,832 (GRCm39) missense probably damaging 1.00
R7055:Adpgk UTSW 9 59,220,476 (GRCm39) missense possibly damaging 0.75
R7348:Adpgk UTSW 9 59,221,069 (GRCm39) missense probably benign 0.00
R7901:Adpgk UTSW 9 59,222,300 (GRCm39) missense probably benign
R8706:Adpgk UTSW 9 59,222,456 (GRCm39) missense probably benign 0.00
R8892:Adpgk UTSW 9 59,217,623 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15