Incidental Mutation 'IGL03068:Ak2'
ID 409800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak2
Ensembl Gene ENSMUSG00000028792
Gene Name adenylate kinase 2
Synonyms D4Ertd220e, Ak-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # IGL03068
Quality Score
Status
Chromosome 4
Chromosomal Location 128887017-128905322 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 128901819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030583] [ENSMUST00000102604] [ENSMUST00000152762]
AlphaFold Q9WTP6
Predicted Effect probably benign
Transcript: ENSMUST00000030583
SMART Domains Protein: ENSMUSP00000030583
Gene: ENSMUSG00000028792

DomainStartEndE-ValueType
Pfam:ADK 20 206 2.2e-62 PFAM
Pfam:ADK_lid 142 177 4.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102604
SMART Domains Protein: ENSMUSP00000099664
Gene: ENSMUSG00000028792

DomainStartEndE-ValueType
Pfam:ADK 20 206 2.3e-62 PFAM
Pfam:ADK_lid 142 177 9.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152762
SMART Domains Protein: ENSMUSP00000122284
Gene: ENSMUSG00000028792

DomainStartEndE-ValueType
Pfam:ADK 17 72 9.3e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,311,171 (GRCm39) L14P probably damaging Het
Appbp2 T C 11: 85,092,246 (GRCm39) Y311C probably damaging Het
Arl9 C A 5: 77,155,225 (GRCm39) L119I possibly damaging Het
Atp1a1 T C 3: 101,491,175 (GRCm39) H620R probably benign Het
Cfap52 T C 11: 67,826,682 (GRCm39) D381G probably benign Het
Cngb3 T C 4: 19,375,246 (GRCm39) F292S possibly damaging Het
Comtd1 G A 14: 21,897,711 (GRCm39) R203C probably damaging Het
Crmp1 G T 5: 37,422,633 (GRCm39) A147S possibly damaging Het
Csmd3 T A 15: 47,710,517 (GRCm39) H1586L possibly damaging Het
Ctnna1 G A 18: 35,382,785 (GRCm39) E644K possibly damaging Het
Dock3 T C 9: 106,841,958 (GRCm39) D957G possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eefsec G T 6: 88,235,209 (GRCm39) Q576K probably benign Het
Efcab5 T A 11: 76,994,927 (GRCm39) I1215L probably benign Het
Etfa A T 9: 55,394,766 (GRCm39) D160E probably benign Het
Exoc7 G A 11: 116,191,960 (GRCm39) R197C possibly damaging Het
G6pc1 A G 11: 101,261,576 (GRCm39) D92G probably benign Het
Gm3182 T A 14: 4,483,921 (GRCm38) probably null Het
Gm4952 A G 19: 12,601,068 (GRCm39) N96S probably damaging Het
Gpr156 G A 16: 37,812,491 (GRCm39) V276M probably damaging Het
Irs2 A G 8: 11,054,974 (GRCm39) S1153P probably damaging Het
Kif21b T C 1: 136,086,093 (GRCm39) probably benign Het
Lmo7 A T 14: 102,112,928 (GRCm39) probably benign Het
Mapk4 G T 18: 74,103,415 (GRCm39) N31K probably damaging Het
Mccc2 T C 13: 100,100,319 (GRCm39) T357A probably damaging Het
Mpeg1 A G 19: 12,439,570 (GRCm39) T343A probably benign Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Pald1 T C 10: 61,156,963 (GRCm39) E829G possibly damaging Het
Pde11a A G 2: 75,848,208 (GRCm39) I873T probably damaging Het
Samd9l T A 6: 3,375,348 (GRCm39) K638* probably null Het
Sema4d A G 13: 51,862,922 (GRCm39) S479P probably damaging Het
Slc12a2 T C 18: 58,037,407 (GRCm39) probably benign Het
Slc47a2 T C 11: 61,194,769 (GRCm39) N470S probably damaging Het
Spag17 C T 3: 99,987,521 (GRCm39) P1604S probably benign Het
Taf8 C A 17: 47,812,290 (GRCm39) V39L probably damaging Het
Tlr11 A G 14: 50,598,941 (GRCm39) E309G probably benign Het
Tmem260 A G 14: 48,724,371 (GRCm39) probably benign Het
Tsc1 A T 2: 28,571,270 (GRCm39) K816M probably damaging Het
Ttc29 A G 8: 79,052,180 (GRCm39) I354V probably benign Het
Ttll3 A T 6: 113,386,158 (GRCm39) N665Y probably damaging Het
Ubr4 A G 4: 139,137,041 (GRCm39) T971A probably benign Het
Vmn2r96 T A 17: 18,803,137 (GRCm39) I349N probably benign Het
Vwa5a A G 9: 38,646,143 (GRCm39) T504A probably benign Het
Ythdf3 T A 3: 16,258,882 (GRCm39) V354E possibly damaging Het
Zan C A 5: 137,474,677 (GRCm39) G13V probably damaging Het
Other mutations in Ak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02279:Ak2 APN 4 128,893,030 (GRCm39) missense probably benign 0.01
R0587:Ak2 UTSW 4 128,896,171 (GRCm39) missense probably damaging 1.00
R1464:Ak2 UTSW 4 128,896,152 (GRCm39) splice site probably benign
R1727:Ak2 UTSW 4 128,901,556 (GRCm39) missense probably damaging 1.00
R1878:Ak2 UTSW 4 128,895,960 (GRCm39) missense probably damaging 1.00
R2002:Ak2 UTSW 4 128,902,022 (GRCm39) missense probably benign 0.00
R2030:Ak2 UTSW 4 128,902,013 (GRCm39) missense probably benign 0.00
R2061:Ak2 UTSW 4 128,901,990 (GRCm39) missense probably damaging 0.99
R4570:Ak2 UTSW 4 128,895,960 (GRCm39) missense probably damaging 0.99
R5108:Ak2 UTSW 4 128,896,034 (GRCm39) missense probably damaging 0.98
R5386:Ak2 UTSW 4 128,901,965 (GRCm39) missense probably benign 0.41
R5667:Ak2 UTSW 4 128,902,040 (GRCm39) missense probably damaging 1.00
R5671:Ak2 UTSW 4 128,902,040 (GRCm39) missense probably damaging 1.00
R6190:Ak2 UTSW 4 128,892,976 (GRCm39) missense probably damaging 1.00
R6936:Ak2 UTSW 4 128,893,005 (GRCm39) missense probably damaging 1.00
R7584:Ak2 UTSW 4 128,893,005 (GRCm39) missense probably damaging 1.00
R9424:Ak2 UTSW 4 128,896,195 (GRCm39) missense possibly damaging 0.93
R9742:Ak2 UTSW 4 128,901,961 (GRCm39) missense possibly damaging 0.50
Posted On 2016-08-02