Incidental Mutation 'R1857:Adpgk'
ID 206241
Institutional Source Beutler Lab
Gene Symbol Adpgk
Ensembl Gene ENSMUSG00000025236
Gene Name ADP-dependent glucokinase
Synonyms 2610017G09Rik
MMRRC Submission 039881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1857 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 59198855-59223483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59222248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 392 (V392L)
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: V391L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026266
Gene: ENSMUSG00000025236
AA Change: V391L

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 probably benign
Transcript: ENSMUST00000217570
AA Change: V392L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.2%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,766,789 (GRCm39) I57N probably damaging Het
Abca15 T C 7: 119,960,592 (GRCm39) S685P probably damaging Het
Akap14 C T X: 36,420,779 (GRCm39) A476T probably damaging Het
Amdhd1 A T 10: 93,367,416 (GRCm39) I246N probably damaging Het
Amhr2 T A 15: 102,355,212 (GRCm39) L165* probably null Het
Atr T A 9: 95,747,150 (GRCm39) I144N probably damaging Het
Ccdc33 T C 9: 57,939,991 (GRCm39) N750S possibly damaging Het
Cdh23 A G 10: 60,159,076 (GRCm39) I2233T probably damaging Het
Cfap46 C A 7: 139,233,324 (GRCm39) V774F probably damaging Het
Cfap69 G T 5: 5,632,518 (GRCm39) T362K possibly damaging Het
Cnih3 A G 1: 181,277,638 (GRCm39) H101R probably damaging Het
Crebrf T A 17: 26,961,937 (GRCm39) Y345N probably benign Het
Cyb5r4 C T 9: 86,923,332 (GRCm39) S185L probably benign Het
Cyp2j5 T C 4: 96,547,723 (GRCm39) E173G possibly damaging Het
Cyp3a41b T A 5: 145,503,660 (GRCm39) I296F probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Dync1h1 T A 12: 110,629,059 (GRCm39) F4205L probably damaging Het
Eif3a A C 19: 60,770,635 (GRCm39) L71V probably damaging Het
Eif3h T C 15: 51,662,674 (GRCm39) Y124C probably damaging Het
Eif4g3 A T 4: 137,903,187 (GRCm39) Q1169L possibly damaging Het
Endod1 T A 9: 14,268,405 (GRCm39) H360L probably benign Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Frem2 T A 3: 53,562,294 (GRCm39) T738S probably benign Het
Gm1527 A T 3: 28,957,539 (GRCm39) T148S probably damaging Het
Gm4894 T C 9: 49,189,976 (GRCm39) S84P unknown Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il1f10 A T 2: 24,182,817 (GRCm39) D31V possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Meiob T C 17: 25,042,544 (GRCm39) V124A probably damaging Het
Mmp11 A T 10: 75,764,191 (GRCm39) D91E probably benign Het
Mpped2 T C 2: 106,613,989 (GRCm39) Y108H probably damaging Het
Mroh9 A G 1: 162,866,714 (GRCm39) V674A probably damaging Het
Mtor G T 4: 148,565,336 (GRCm39) Q1015H probably damaging Het
Mylk3 G A 8: 86,055,223 (GRCm39) T711I probably damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Neurl4 G T 11: 69,796,361 (GRCm39) G435V probably damaging Het
Nipal2 A G 15: 34,678,779 (GRCm39) S21P possibly damaging Het
Nphp1 T A 2: 127,612,296 (GRCm39) D217V probably benign Het
Nphp3 T C 9: 103,898,493 (GRCm39) I432T possibly damaging Het
Oprd1 T G 4: 131,840,992 (GRCm39) D322A probably damaging Het
Or10ag2 T C 2: 87,248,992 (GRCm39) L198P probably damaging Het
Or2b28 A G 13: 21,531,346 (GRCm39) M83V possibly damaging Het
Or56a3b T G 7: 104,770,751 (GRCm39) L29R probably benign Het
Pcdh10 C A 3: 45,334,372 (GRCm39) Q229K possibly damaging Het
Pdlim7 G A 13: 55,653,858 (GRCm39) T253M probably damaging Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Pigc T G 1: 161,798,446 (GRCm39) S143A possibly damaging Het
Pkd1l2 T C 8: 117,767,408 (GRCm39) D1294G possibly damaging Het
Ppp2r1a T C 17: 21,181,951 (GRCm39) S490P possibly damaging Het
Ppp2r3d T A 9: 101,090,092 (GRCm39) N77I probably damaging Het
Pramel17 T C 4: 101,692,770 (GRCm39) Y410C probably damaging Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prl7a2 A T 13: 27,843,163 (GRCm39) C213* probably null Het
Prpf8 T A 11: 75,386,249 (GRCm39) probably null Het
Psmd7 A T 8: 108,311,525 (GRCm39) N109K probably damaging Het
Ptprn T C 1: 75,224,549 (GRCm39) K936E possibly damaging Het
Ro60 T C 1: 143,646,488 (GRCm39) T86A probably benign Het
Ror1 A T 4: 100,298,700 (GRCm39) Q691L probably damaging Het
Sars2 A G 7: 28,449,437 (GRCm39) M322V probably benign Het
Scfd2 C A 5: 74,372,962 (GRCm39) E638* probably null Het
Scgb3a2 A G 18: 43,899,900 (GRCm39) T63A probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Smarcd1 A G 15: 99,607,295 (GRCm39) K382E probably damaging Het
Sox5 T A 6: 143,906,541 (GRCm39) S305C probably damaging Het
Sp5 C A 2: 70,307,213 (GRCm39) H299Q possibly damaging Het
Stard13 T C 5: 151,018,903 (GRCm39) Y60C probably damaging Het
Tmprss6 A G 15: 78,336,752 (GRCm39) F383L probably damaging Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,052,241 (GRCm39) T252A possibly damaging Het
Vangl2 A T 1: 171,837,464 (GRCm39) L115Q probably damaging Het
Vmn1r42 A G 6: 89,821,597 (GRCm39) I324T probably benign Het
Vwa5b1 A G 4: 138,296,413 (GRCm39) F1205L probably damaging Het
Zfp951 G C 5: 104,962,723 (GRCm39) T281R probably damaging Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript 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
R1158:Adpgk UTSW 9 59,217,566 (GRCm39) missense possibly damaging 0.70
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 PCR Primer
(F):5'- CTTCTCTTGGGCTGAATGAACAG -3'
(R):5'- TCCACCACTGGCTTATCTGG -3'

Sequencing Primer
(F):5'- AATGAACAGGAGCTGCTGTTTCTC -3'
(R):5'- TCTGGGTTCAATACAATCCTGGAACC -3'
Posted On 2014-06-23