Incidental Mutation 'IGL01701:Adk'
ID 104469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adk
Ensembl Gene ENSMUSG00000039197
Gene Name adenosine kinase
Synonyms 2310026J05Rik, 5033405D03Rik, AK
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01701
Quality Score
Status
Chromosome 14
Chromosomal Location 21102642-21498637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21153922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 42 (E42K)
Ref Sequence ENSEMBL: ENSMUSP00000153089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045376] [ENSMUST00000223915] [ENSMUST00000224069] [ENSMUST00000224899]
AlphaFold P55264
Predicted Effect probably benign
Transcript: ENSMUST00000045376
AA Change: E58K

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047665
Gene: ENSMUSG00000039197
AA Change: E58K

DomainStartEndE-ValueType
Pfam:PfkB 41 359 1.1e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223861
Predicted Effect possibly damaging
Transcript: ENSMUST00000223915
AA Change: E56K

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000224069
AA Change: E42K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224899
AA Change: E49K

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225742
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,254,776 (GRCm39) Y36H possibly damaging Het
Adgrv1 T C 13: 81,567,750 (GRCm39) D5141G possibly damaging Het
Akap1 C A 11: 88,735,958 (GRCm39) V268L probably benign Het
Arl6ip5 A G 6: 97,187,774 (GRCm39) probably benign Het
Atrx A G X: 104,874,526 (GRCm39) S1945P probably damaging Het
Clec5a G A 6: 40,559,160 (GRCm39) probably benign Het
Cplane1 T C 15: 8,232,741 (GRCm39) probably benign Het
Cul3 G T 1: 80,255,140 (GRCm39) H6Q probably damaging Het
Fn1 T C 1: 71,669,012 (GRCm39) probably benign Het
Furin C A 7: 80,042,240 (GRCm39) V452F probably benign Het
Furin T A 7: 80,040,507 (GRCm39) D777V probably benign Het
Gm57859 T C 11: 113,579,927 (GRCm39) F441L probably benign Het
Hmgb4 G A 4: 128,154,166 (GRCm39) T134I probably benign Het
Ift74 A T 4: 94,550,895 (GRCm39) E349V possibly damaging Het
Igkv6-23 A T 6: 70,237,880 (GRCm39) L13Q probably damaging Het
Lekr1 A T 3: 65,591,425 (GRCm39) Y54F probably damaging Het
Lman1 A T 18: 66,127,921 (GRCm39) V241E possibly damaging Het
Mat1a T A 14: 40,836,772 (GRCm39) D167E probably benign Het
Myl6 G A 10: 128,327,966 (GRCm39) A130V probably damaging Het
Myo9a T C 9: 59,791,877 (GRCm39) probably null Het
Nlrp4f A T 13: 65,347,223 (GRCm39) W12R probably damaging Het
Nr1h4 T C 10: 89,314,669 (GRCm39) R276G probably benign Het
Or4f61 T C 2: 111,922,851 (GRCm39) N65S possibly damaging Het
Or5m13b C A 2: 85,754,421 (GRCm39) Q270K possibly damaging Het
Pag1 C T 3: 9,758,886 (GRCm39) E411K probably damaging Het
Prorp T G 12: 55,355,660 (GRCm39) probably benign Het
Rttn A G 18: 89,082,339 (GRCm39) N1422D probably damaging Het
Ryr1 C T 7: 28,759,235 (GRCm39) R3345Q probably damaging Het
Slc12a8 T C 16: 33,361,280 (GRCm39) L85P probably damaging Het
Slc22a17 T C 14: 55,144,718 (GRCm39) H565R probably damaging Het
Slc46a3 T C 5: 147,823,108 (GRCm39) T245A probably benign Het
Thsd7b A G 1: 129,358,665 (GRCm39) H33R probably benign Het
Tmem131 A G 1: 36,847,318 (GRCm39) V1260A probably benign Het
Tmem30a A T 9: 79,681,461 (GRCm39) F236Y probably damaging Het
Trim30b A C 7: 104,015,258 (GRCm39) Y43* probably null Het
Trpc3 T C 3: 36,725,743 (GRCm39) K78E possibly damaging Het
Twist2 A T 1: 91,729,736 (GRCm39) M130L probably benign Het
Ube2q2l T A 6: 136,377,804 (GRCm39) Y342F probably damaging Het
Other mutations in Adk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Adk APN 14 21,142,461 (GRCm39) missense probably damaging 1.00
IGL01403:Adk APN 14 21,284,983 (GRCm39) missense probably damaging 0.99
IGL02405:Adk APN 14 21,153,899 (GRCm39) missense probably benign 0.06
IGL02808:Adk APN 14 21,153,901 (GRCm39) missense probably benign 0.08
jeopardy UTSW 14 21,284,982 (GRCm39) missense probably damaging 0.99
presumption UTSW 14 21,290,599 (GRCm39) missense probably damaging 1.00
R0385:Adk UTSW 14 21,368,142 (GRCm39) missense probably benign 0.01
R0463:Adk UTSW 14 21,473,604 (GRCm39) missense probably benign 0.35
R0904:Adk UTSW 14 21,142,496 (GRCm39) missense probably damaging 0.96
R1448:Adk UTSW 14 21,102,708 (GRCm39) start codon destroyed probably null 0.00
R1695:Adk UTSW 14 21,431,668 (GRCm39) missense probably benign 0.01
R2048:Adk UTSW 14 21,368,244 (GRCm39) missense probably damaging 1.00
R4838:Adk UTSW 14 21,419,154 (GRCm39) missense probably damaging 1.00
R5183:Adk UTSW 14 21,290,599 (GRCm39) missense probably damaging 1.00
R5988:Adk UTSW 14 21,473,616 (GRCm39) missense probably benign 0.03
R6770:Adk UTSW 14 21,284,982 (GRCm39) missense probably damaging 0.99
R6932:Adk UTSW 14 21,126,376 (GRCm39) start codon destroyed probably null 0.23
R7146:Adk UTSW 14 21,376,682 (GRCm39) missense
R7257:Adk UTSW 14 21,102,739 (GRCm39) missense probably damaging 0.99
R7491:Adk UTSW 14 21,284,997 (GRCm39) missense probably damaging 0.96
R7806:Adk UTSW 14 21,376,679 (GRCm39) missense
R7922:Adk UTSW 14 21,368,111 (GRCm39) missense probably benign
R8465:Adk UTSW 14 21,153,892 (GRCm39) missense possibly damaging 0.80
R9709:Adk UTSW 14 21,126,386 (GRCm39) missense probably benign 0.04
Posted On 2014-01-21