Incidental Mutation 'R9742:Ak2'
ID 731866
Institutional Source Beutler Lab
Gene Symbol Ak2
Ensembl Gene ENSMUSG00000028792
Gene Name adenylate kinase 2
Synonyms D4Ertd220e, Ak-2
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R9742 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 128887017-128905322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128901961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 211 (D211E)
Ref Sequence ENSEMBL: ENSMUSP00000030583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030583] [ENSMUST00000102604] [ENSMUST00000152762]
AlphaFold Q9WTP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000030583
AA Change: D211E

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030583
Gene: ENSMUSG00000028792
AA Change: D211E

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
AA Change: D211E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099664
Gene: ENSMUSG00000028792
AA Change: D211E

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.1%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T G 7: 78,749,115 (GRCm39) S1295R probably benign Het
Acsf2 C A 11: 94,463,963 (GRCm39) V74L probably benign Het
Actrt3 T C 3: 30,652,434 (GRCm39) Y220C probably damaging Het
Adgrl2 A G 3: 148,541,986 (GRCm39) probably null Het
Atp4b G A 8: 13,440,097 (GRCm39) T83I probably damaging Het
Brat1 A G 5: 140,703,912 (GRCm39) T722A probably benign Het
Cfap65 T C 1: 74,943,840 (GRCm39) Y1557C probably benign Het
Cmya5 T C 13: 93,231,935 (GRCm39) D1051G possibly damaging Het
Cuedc2 A G 19: 46,319,727 (GRCm39) probably null Het
Dtnb A T 12: 3,736,740 (GRCm39) K293N possibly damaging Het
Dusp26 A T 8: 31,584,198 (GRCm39) T102S probably benign Het
Epg5 T A 18: 78,024,170 (GRCm39) L1079H probably damaging Het
Epha6 T C 16: 60,026,065 (GRCm39) Y459C probably damaging Het
Fam89b A T 19: 5,779,330 (GRCm39) S76T probably benign Het
Fbxo33 A G 12: 59,251,682 (GRCm39) S278P probably damaging Het
Fndc3a C A 14: 72,777,693 (GRCm39) E1171* probably null Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Il17ra T A 6: 120,458,466 (GRCm39) I539N probably damaging Het
Khdc1c T G 1: 21,439,945 (GRCm39) H165Q probably benign Het
Ldb1 A G 19: 46,023,858 (GRCm39) probably null Het
Lrrc27 C T 7: 138,806,229 (GRCm39) A298V probably benign Het
Lsr CTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTC 7: 30,657,492 (GRCm39) probably benign Het
Mpi A G 9: 57,452,606 (GRCm39) C309R probably damaging Het
Mrtfa G A 15: 80,901,180 (GRCm39) A472V possibly damaging Het
Mtcl3 C A 10: 29,024,394 (GRCm39) Q437K probably benign Het
Muc17 A G 5: 137,167,127 (GRCm39) Y276H Het
Myh6 T A 14: 55,194,056 (GRCm39) M778L probably benign Het
Nmnat1 T A 4: 149,553,338 (GRCm39) E258V probably damaging Het
Or10ag53 T C 2: 87,082,376 (GRCm39) F32L probably benign Het
Or5b108 T C 19: 13,168,769 (GRCm39) V246A probably damaging Het
Pik3c2b A G 1: 133,022,487 (GRCm39) E1143G probably damaging Het
Plch2 C T 4: 155,082,912 (GRCm39) D579N probably damaging Het
Slc22a19 T C 19: 7,688,281 (GRCm39) Q93R probably benign Het
Slc9c1 T A 16: 45,400,616 (GRCm39) I742N probably damaging Het
Smarcc2 A G 10: 128,297,222 (GRCm39) Y38C probably damaging Het
Strbp T C 2: 37,515,268 (GRCm39) T253A probably damaging Het
Trim40 A G 17: 37,199,902 (GRCm39) S59P possibly damaging Het
Trpm6 G T 19: 18,800,766 (GRCm39) V827L probably benign Het
Unc5d A G 8: 29,156,792 (GRCm39) probably null Het
Vmn2r118 T C 17: 55,918,009 (GRCm39) T168A probably damaging Het
Wdfy4 G A 14: 32,809,987 (GRCm39) H1745Y Het
Xrra1 A G 7: 99,563,660 (GRCm39) D549G probably benign Het
Zhx2 A G 15: 57,686,806 (GRCm39) E725G probably benign Het
Zzef1 G A 11: 72,749,179 (GRCm39) R889H probably benign Het
Other mutations in Ak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02279:Ak2 APN 4 128,893,030 (GRCm39) missense probably benign 0.01
IGL03068:Ak2 APN 4 128,901,819 (GRCm39) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- CAGTTGGCTAGTCAGGAGAG -3'
(R):5'- GCTTTCTGAGAAAGGAAGTTCCC -3'

Sequencing Primer
(F):5'- CACTGAAGAGAACTTTGCTGAC -3'
(R):5'- TTTCTGAGAAAGGAAGTTCCCTCCAC -3'
Posted On 2022-11-14