Incidental Mutation 'R5124:Adpgk'
ID 393450
Institutional Source Beutler Lab
Gene Symbol Adpgk
Ensembl Gene ENSMUSG00000025236
Gene Name ADP-dependent glucokinase
Synonyms 2610017G09Rik
MMRRC Submission 042712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5124 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 59198855-59223483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59222561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 496 (D496G)
Ref Sequence ENSEMBL: ENSMUSP00000149882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026266] [ENSMUST00000217570]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026266
AA Change: D495G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026266
Gene: ENSMUSG00000025236
AA Change: D495G

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: D496G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (60/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,401,289 (GRCm39) I65N probably damaging Het
Agbl4 A G 4: 111,513,525 (GRCm39) M424V probably benign Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Bpifa3 C T 2: 153,980,057 (GRCm39) Q230* probably null Het
Cog4 G T 8: 111,573,825 (GRCm39) R48L probably damaging Het
Cop1 A G 1: 159,105,682 (GRCm39) Y33C probably damaging Het
Cyp26a1 A T 19: 37,689,665 (GRCm39) I454L probably benign Het
Ddr1 T C 17: 35,994,489 (GRCm39) H762R probably damaging Het
Dnajc2 A T 5: 21,968,482 (GRCm39) S328T probably benign Het
Dppa2 G T 16: 48,131,986 (GRCm39) V28F probably damaging Het
Dusp15 T A 2: 152,793,275 (GRCm39) M1L possibly damaging Het
Eml5 G A 12: 98,758,301 (GRCm39) T1875M probably damaging Het
Fam186a A G 15: 99,840,977 (GRCm39) S1756P possibly damaging Het
Gm5431 T A 11: 48,779,866 (GRCm39) Q630L probably benign Het
H6pd A G 4: 150,066,512 (GRCm39) S625P possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj6 G T 16: 94,633,518 (GRCm39) P180T probably damaging Het
Lpin3 T A 2: 160,738,981 (GRCm39) M263K probably benign Het
Lrp2 A T 2: 69,331,834 (GRCm39) D1640E probably damaging Het
Lypd2 C T 15: 74,604,347 (GRCm39) A74T probably benign Het
Map4k1 T C 7: 28,688,257 (GRCm39) L223P probably damaging Het
Myh7 A T 14: 55,223,199 (GRCm39) Y715* probably null Het
Myo9b T C 8: 71,808,483 (GRCm39) S1697P probably damaging Het
Neb T C 2: 52,171,510 (GRCm39) E1661G probably damaging Het
Nek8 A T 11: 78,063,765 (GRCm39) M80K probably damaging Het
Nup188 T A 2: 30,220,947 (GRCm39) L979Q probably damaging Het
Or4c113 A T 2: 88,885,431 (GRCm39) V113D probably damaging Het
P4htm T A 9: 108,459,141 (GRCm39) S264C possibly damaging Het
Pcdha8 A G 18: 37,126,768 (GRCm39) T417A probably benign Het
Pclo T C 5: 14,727,406 (GRCm39) probably benign Het
Prox1 T A 1: 189,893,476 (GRCm39) N323I possibly damaging Het
Prune2 A T 19: 17,177,274 (GRCm39) R222S probably damaging Het
Psmd2 C A 16: 20,471,448 (GRCm39) R100S possibly damaging Het
Qrich2 A T 11: 116,337,599 (GRCm39) M1963K probably damaging Het
Rbm39 C T 2: 156,001,082 (GRCm39) G324D probably damaging Het
Rhobtb1 A T 10: 69,105,731 (GRCm39) probably null Het
Rhov G T 2: 119,101,568 (GRCm39) P13T unknown Het
Sec14l3 A G 11: 4,025,209 (GRCm39) D273G possibly damaging Het
Sirpd T A 3: 15,385,639 (GRCm39) R88* probably null Het
Slco2a1 T A 9: 102,927,365 (GRCm39) I86N probably damaging Het
Smg1 A T 7: 117,812,235 (GRCm39) S19T probably benign Het
Stk32a T C 18: 43,438,082 (GRCm39) S194P probably benign Het
Syna G A 5: 134,588,424 (GRCm39) S175L possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tmem151b T C 17: 45,858,045 (GRCm39) Y67C probably damaging Het
Tshz1 C T 18: 84,033,592 (GRCm39) R272Q probably damaging Het
Tti1 A G 2: 157,850,115 (GRCm39) S375P probably damaging Het
Vcan T C 13: 89,873,636 (GRCm39) K73E probably damaging Het
Vmn1r202 C T 13: 22,685,920 (GRCm39) V166I probably benign Het
Vmn2r10 A G 5: 109,154,286 (GRCm39) V6A probably benign Het
Zfhx4 A G 3: 5,307,107 (GRCm39) D111G probably damaging Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging 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
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
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'- GCACCTCAGGAGTTTACGAC -3'
(R):5'- GACAGCTGAGTTTCAATTATACCTG -3'

Sequencing Primer
(F):5'- CAGGAGTTTACGACATCCCATTTGG -3'
(R):5'- AAGTGTTTTTATGTTGCCAACAGGC -3'
Posted On 2016-06-15