Incidental Mutation 'R1346:Ak5'
ID 156496
Institutional Source Beutler Lab
Gene Symbol Ak5
Ensembl Gene ENSMUSG00000039058
Gene Name adenylate kinase 5
Synonyms
MMRRC Submission 039411-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R1346 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 152168461-152373992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 152239071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 301 (D301E)
Ref Sequence ENSEMBL: ENSMUSP00000042785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045262]
AlphaFold Q920P5
Predicted Effect probably damaging
Transcript: ENSMUST00000045262
AA Change: D301E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: D301E

DomainStartEndE-ValueType
Pfam:AAA_17 134 263 1.1e-8 PFAM
Pfam:AAA_18 135 274 3e-10 PFAM
Pfam:ADK 137 294 5.8e-35 PFAM
Pfam:AAA_17 378 525 2.9e-8 PFAM
Pfam:ADK 381 537 1.9e-45 PFAM
Meta Mutation Damage Score 0.1383 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 90.1%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C A 14: 32,382,771 (GRCm39) A1065S probably benign Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Arap3 A T 18: 38,108,971 (GRCm39) C1228S probably damaging Het
Arfgef1 T C 1: 10,229,958 (GRCm39) T1248A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Bdp1 G A 13: 100,215,263 (GRCm39) Q374* probably null Het
Cacng6 G T 7: 3,483,438 (GRCm39) W255C possibly damaging Het
Camta2 T C 11: 70,567,293 (GRCm39) K628R possibly damaging Het
Catsperg1 A T 7: 28,881,759 (GRCm39) probably null Het
Cers4 A G 8: 4,565,632 (GRCm39) E26G probably damaging Het
Chfr A G 5: 110,288,313 (GRCm39) D76G probably damaging Het
Chrng C A 1: 87,135,985 (GRCm39) Q245K probably benign Het
Cnn2 T C 10: 79,829,414 (GRCm39) probably benign Het
Dyrk2 T C 10: 118,695,624 (GRCm39) K545E possibly damaging Het
Eif3d A G 15: 77,852,754 (GRCm39) I9T probably damaging Het
Elovl7 A G 13: 108,410,883 (GRCm39) I153V probably benign Het
Etl4 T C 2: 20,810,955 (GRCm39) S1013P possibly damaging Het
Furin C T 7: 80,041,932 (GRCm39) probably benign Het
Gart G T 16: 91,425,070 (GRCm39) probably null Het
Gm572 G A 4: 148,739,354 (GRCm39) V61M possibly damaging Het
Hspbap1 G A 16: 35,622,035 (GRCm39) A127T probably damaging Het
Kcnh2 T C 5: 24,527,658 (GRCm39) D898G possibly damaging Het
Kcnrg A G 14: 61,849,144 (GRCm39) T202A probably benign Het
Lhx1 T C 11: 84,412,905 (GRCm39) E36G possibly damaging Het
Lrp1 T C 10: 127,441,735 (GRCm39) N167S probably damaging Het
Parp9 A T 16: 35,777,267 (GRCm39) M171L probably benign Het
Pla2g4e G A 2: 120,013,253 (GRCm39) R356W probably damaging Het
Ppp4c C T 7: 126,391,222 (GRCm39) probably benign Het
Rab3c G A 13: 110,397,120 (GRCm39) R49C probably damaging Het
Rbm25 T C 12: 83,691,167 (GRCm39) probably benign Het
Sema4g T A 19: 44,986,091 (GRCm39) S311T possibly damaging Het
Skida1 T C 2: 18,053,090 (GRCm39) I21V possibly damaging Het
Slc25a32 T A 15: 38,963,411 (GRCm39) I137F probably benign Het
Stard9 T C 2: 120,543,929 (GRCm39) V4409A probably damaging Het
Stx2 G A 5: 129,065,852 (GRCm39) probably benign Het
Timeless C T 10: 128,078,234 (GRCm39) T248M possibly damaging Het
Tlr2 T A 3: 83,743,900 (GRCm39) N728Y probably damaging Het
Zfp592 A T 7: 80,687,812 (GRCm39) N913Y possibly damaging Het
Other mutations in Ak5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Ak5 APN 3 152,232,422 (GRCm39) missense probably benign 0.28
IGL02237:Ak5 APN 3 152,204,980 (GRCm39) missense probably benign 0.44
IGL02661:Ak5 APN 3 152,169,593 (GRCm39) missense probably benign
IGL03097:Ak5 UTSW 3 152,366,151 (GRCm39) critical splice donor site probably null
R0645:Ak5 UTSW 3 152,359,252 (GRCm39) missense probably damaging 1.00
R1135:Ak5 UTSW 3 152,359,299 (GRCm39) missense probably damaging 1.00
R1347:Ak5 UTSW 3 152,239,071 (GRCm39) missense probably damaging 1.00
R1347:Ak5 UTSW 3 152,239,071 (GRCm39) missense probably damaging 1.00
R1349:Ak5 UTSW 3 152,239,071 (GRCm39) missense probably damaging 1.00
R1749:Ak5 UTSW 3 152,178,557 (GRCm39) missense probably damaging 0.99
R2059:Ak5 UTSW 3 152,366,274 (GRCm39) missense probably damaging 1.00
R3929:Ak5 UTSW 3 152,373,444 (GRCm39) missense probably damaging 0.98
R4433:Ak5 UTSW 3 152,361,517 (GRCm39) missense probably damaging 1.00
R4909:Ak5 UTSW 3 152,361,514 (GRCm39) missense probably damaging 1.00
R5052:Ak5 UTSW 3 152,366,204 (GRCm39) missense probably benign 0.00
R5097:Ak5 UTSW 3 152,187,270 (GRCm39) missense probably damaging 0.99
R5645:Ak5 UTSW 3 152,361,670 (GRCm39) missense possibly damaging 0.92
R5907:Ak5 UTSW 3 152,321,589 (GRCm39) missense probably damaging 1.00
R6505:Ak5 UTSW 3 152,187,306 (GRCm39) missense probably benign 0.01
R7117:Ak5 UTSW 3 152,321,493 (GRCm39) critical splice donor site probably null
R7397:Ak5 UTSW 3 152,183,989 (GRCm39) missense probably damaging 1.00
R7455:Ak5 UTSW 3 152,187,209 (GRCm39) missense probably damaging 0.99
R8440:Ak5 UTSW 3 152,209,680 (GRCm39) splice site probably null
R8802:Ak5 UTSW 3 152,321,631 (GRCm39) missense probably damaging 1.00
R8943:Ak5 UTSW 3 152,361,511 (GRCm39) missense probably damaging 0.99
R9002:Ak5 UTSW 3 152,359,091 (GRCm39) missense probably damaging 1.00
R9130:Ak5 UTSW 3 152,178,569 (GRCm39) nonsense probably null
X0023:Ak5 UTSW 3 152,321,664 (GRCm39) missense probably damaging 1.00
X0024:Ak5 UTSW 3 152,359,234 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTCAGCCACTGATAAAAGTCCTG -3'
(R):5'- AAAAGGCTGCCACTTTTCTTAGCCAC -3'

Sequencing Primer
(F):5'- AAAAGTCCTGGCTCATCTGG -3'
(R):5'- TAGCCACCATGACTGAACATTTTC -3'
Posted On 2014-02-11