Incidental Mutation 'R5671:Ak2'
ID 442611
Institutional Source Beutler Lab
Gene Symbol Ak2
Ensembl Gene ENSMUSG00000028792
Gene Name adenylate kinase 2
Synonyms D4Ertd220e, Ak-2
MMRRC Submission 043314-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R5671 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 128887017-128905322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128902040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 238 (F238I)
Ref Sequence ENSEMBL: ENSMUSP00000030583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030583] [ENSMUST00000102604] [ENSMUST00000152762]
AlphaFold Q9WTP6
Predicted Effect probably damaging
Transcript: ENSMUST00000030583
AA Change: F238I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030583
Gene: ENSMUSG00000028792
AA Change: F238I

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
Meta Mutation Damage Score 0.2847 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 T A 6: 85,606,190 (GRCm39) N2613K possibly damaging Het
Antxr1 C T 6: 87,194,255 (GRCm39) probably null Het
Ap3b1 A T 13: 94,664,765 (GRCm39) R901S unknown Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Cdx1 C T 18: 61,152,971 (GRCm39) V212I probably benign Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clec14a T C 12: 58,314,612 (GRCm39) I337V probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Golga7 C T 8: 23,740,360 (GRCm39) A57T probably damaging Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr141b A G 13: 19,913,465 (GRCm39) noncoding transcript Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Igkv9-120 G A 6: 68,027,257 (GRCm39) W57* probably null Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nhlrc1 A G 13: 47,167,193 (GRCm39) F355L probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Or5b21 A T 19: 12,839,171 (GRCm39) T11S probably benign Het
Pcsk1 A G 13: 75,246,026 (GRCm39) T135A possibly damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rbbp8 A G 18: 11,875,699 (GRCm39) S871G probably benign Het
Rhoj A T 12: 75,440,743 (GRCm39) I135F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Ska1 G T 18: 74,330,067 (GRCm39) D224E probably damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a28 A T 19: 8,108,795 (GRCm39) C116S probably damaging Het
Synpo T C 18: 60,729,022 (GRCm39) D1060G probably damaging Het
Tectb T C 19: 55,181,059 (GRCm39) S310P probably benign Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Tpo A G 12: 30,169,490 (GRCm39) S82P probably benign Het
Ttyh3 T A 5: 140,617,307 (GRCm39) M321L probably benign Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Vmn2r11 A G 5: 109,202,772 (GRCm39) W102R probably benign Het
Vps13a G A 19: 16,692,464 (GRCm39) H817Y probably benign Het
Vps51 A G 19: 6,118,224 (GRCm39) V757A probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging Het
Zfp423 T C 8: 88,508,955 (GRCm39) N442S 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
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
Predicted Primers PCR Primer
(F):5'- GCTTCTGATGTATTGTTCTCAGATCAC -3'
(R):5'- AGATGAGTGCTGCACATATGAG -3'

Sequencing Primer
(F):5'- TCAGATCACTGGGGAGCC -3'
(R):5'- GAGTGCTGCACATATGAGACACATC -3'
Posted On 2016-11-09