Incidental Mutation 'R6936:Ak2'
ID 540286
Institutional Source Beutler Lab
Gene Symbol Ak2
Ensembl Gene ENSMUSG00000028792
Gene Name adenylate kinase 2
Synonyms D4Ertd220e, Ak-2
MMRRC Submission 045050-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R6936 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 128887017-128905322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128893005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 55 (S55P)
Ref Sequence ENSEMBL: ENSMUSP00000122284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030583] [ENSMUST00000102604] [ENSMUST00000152762]
AlphaFold Q9WTP6
Predicted Effect probably damaging
Transcript: ENSMUST00000030583
AA Change: S58P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030583
Gene: ENSMUSG00000028792
AA Change: S58P

DomainStartEndE-ValueType
Pfam:ADK 20 206 2.2e-62 PFAM
Pfam:ADK_lid 142 177 4.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102604
AA Change: S58P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099664
Gene: ENSMUSG00000028792
AA Change: S58P

DomainStartEndE-ValueType
Pfam:ADK 20 206 2.3e-62 PFAM
Pfam:ADK_lid 142 177 9.2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152762
AA Change: S55P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122284
Gene: ENSMUSG00000028792
AA Change: S55P

DomainStartEndE-ValueType
Pfam:ADK 17 72 9.3e-26 PFAM
Meta Mutation Damage Score 0.4596 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.7%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,568 (GRCm39) I2772F probably damaging Het
Adam1a A G 5: 121,657,425 (GRCm39) C623R probably damaging Het
Ak4 C T 4: 101,304,456 (GRCm39) A82V probably benign Het
Arhgap10 A T 8: 78,037,376 (GRCm39) C617* probably null Het
Art1 A T 7: 101,755,977 (GRCm39) D56V possibly damaging Het
Ascc3 A G 10: 50,606,057 (GRCm39) D1392G probably damaging Het
Bbs5 T C 2: 69,484,698 (GRCm39) S123P probably damaging Het
Cabin1 A T 10: 75,551,592 (GRCm39) probably null Het
Carmil3 G A 14: 55,739,018 (GRCm39) E891K probably benign Het
Cbfa2t3 C G 8: 123,374,478 (GRCm39) R89P probably damaging Het
Ccdc157 A G 11: 4,094,030 (GRCm39) S534P probably benign Het
Cep72 A T 13: 74,188,206 (GRCm39) I229N probably damaging Het
Cnn3 C T 3: 121,243,702 (GRCm39) probably benign Het
Cyp2c70 A G 19: 40,156,007 (GRCm39) V181A probably damaging Het
Cyp2d26 C T 15: 82,676,741 (GRCm39) D202N probably benign Het
Dbh A G 2: 27,062,809 (GRCm39) K343E probably benign Het
Dlx5 A G 6: 6,879,585 (GRCm39) Y161H probably damaging Het
Dnah5 A T 15: 28,409,414 (GRCm39) I3611F probably damaging Het
Egf A C 3: 129,474,853 (GRCm39) F563V possibly damaging Het
Enpp1 T C 10: 24,527,237 (GRCm39) H650R probably benign Het
Exoc6 A G 19: 37,560,311 (GRCm39) I109M probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fgg C T 3: 82,915,727 (GRCm39) S56F possibly damaging Het
Fras1 A G 5: 96,916,211 (GRCm39) D3415G possibly damaging Het
Ghsr A G 3: 27,426,474 (GRCm39) I177V probably benign Het
Gm1979 A T 5: 26,207,028 (GRCm39) H62Q probably benign Het
Gpatch2 A G 1: 186,965,433 (GRCm39) D313G probably benign Het
Gtf2i C T 5: 134,271,639 (GRCm39) E823K probably damaging Het
Hook2 C A 8: 85,729,627 (GRCm39) T689N probably benign Het
Hrnr A T 3: 93,239,667 (GRCm39) N3302Y unknown Het
Igkv7-33 G A 6: 70,035,785 (GRCm39) P66S possibly damaging Het
Kcnh2 T A 5: 24,529,337 (GRCm39) I800F probably damaging Het
Mcmbp G A 7: 128,326,920 (GRCm39) Q21* probably null Het
Mmp21 T C 7: 133,280,704 (GRCm39) K89E probably benign Het
Or4b13 A G 2: 90,082,678 (GRCm39) V218A probably benign Het
Or52r1c A T 7: 102,735,021 (GRCm39) I94F probably damaging Het
Pcdhga4 A G 18: 37,820,458 (GRCm39) D669G possibly damaging Het
Ralgapa1 T C 12: 55,832,997 (GRCm39) T169A probably damaging Het
Sec31a T C 5: 100,540,369 (GRCm39) N35S probably benign Het
Serpinb5 A T 1: 106,798,148 (GRCm39) T46S probably benign Het
Svs5 A G 2: 164,079,548 (GRCm39) S120P possibly damaging Het
Tbpl2 T C 2: 23,984,953 (GRCm39) T64A probably benign Het
Tecpr2 T A 12: 110,911,297 (GRCm39) H1111Q possibly damaging Het
Tm9sf3 A G 19: 41,211,638 (GRCm39) F402L probably benign Het
Tmem120b T G 5: 123,254,287 (GRCm39) V287G possibly damaging Het
Tmem150c T C 5: 100,231,577 (GRCm39) T133A possibly damaging Het
Ubqln3 A T 7: 103,791,517 (GRCm39) V191D probably damaging Het
Ubr2 T C 17: 47,283,957 (GRCm39) E564G possibly damaging Het
Zkscan1 T C 5: 138,091,567 (GRCm39) V100A probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CGGGGATAGCTAGTATTTATGACG -3'
(R):5'- GAAATGCTCTGTGCCTGCAC -3'

Sequencing Primer
(F):5'- ATGACGGTATCCAGGTACTTTACG -3'
(R):5'- CACTGGCTGGTGAAGTCGTC -3'
Posted On 2018-11-06