Incidental Mutation 'IGL02405:Adk'
ID 292023
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 # IGL02405
Quality Score
Status
Chromosome 14
Chromosomal Location 21102642-21498637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21153899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 48 (K48R)
Ref Sequence ENSEMBL: ENSMUSP00000152928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045376] [ENSMUST00000223915] [ENSMUST00000224069] [ENSMUST00000224899]
AlphaFold P55264
Predicted Effect probably benign
Transcript: ENSMUST00000045376
AA Change: K50R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000047665
Gene: ENSMUSG00000039197
AA Change: K50R

DomainStartEndE-ValueType
Pfam:PfkB 41 359 1.1e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223861
Predicted Effect probably benign
Transcript: ENSMUST00000223915
AA Change: K48R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000224069
AA Change: K34R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000224899
AA Change: K41R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,498,036 (GRCm39) S1434P possibly damaging Het
Abcc12 G T 8: 87,284,782 (GRCm39) Q278K probably damaging Het
Atp8b3 C T 10: 80,366,462 (GRCm39) G267D probably damaging Het
Bpifa6 T A 2: 153,832,782 (GRCm39) L299* probably null Het
Cblb G A 16: 51,986,616 (GRCm39) A620T probably benign Het
Cep128 C T 12: 91,233,760 (GRCm39) R436H probably benign Het
Chd4 A G 6: 125,074,190 (GRCm39) D21G probably benign Het
Cnksr1 T C 4: 133,963,592 (GRCm39) D30G possibly damaging Het
Crybb2 A G 5: 113,206,374 (GRCm39) Y154H probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhx57 A T 17: 80,562,979 (GRCm39) probably null Het
Eri2 T C 7: 119,384,705 (GRCm39) R599G probably damaging Het
Fcrl1 A C 3: 87,293,074 (GRCm39) K244Q probably damaging Het
Gm11992 A G 11: 9,009,939 (GRCm39) N179S probably benign Het
Hgfac A G 5: 35,201,824 (GRCm39) D319G probably benign Het
Irf5 G A 6: 29,535,760 (GRCm39) R258H probably damaging Het
Mecr G A 4: 131,590,303 (GRCm39) probably null Het
Obscn T G 11: 59,023,428 (GRCm39) K650Q probably damaging Het
Or5b98 A G 19: 12,931,823 (GRCm39) Y290C probably damaging Het
Pde4d T C 13: 108,996,743 (GRCm39) probably null Het
Saxo4 G A 19: 10,451,930 (GRCm39) T406I probably damaging Het
Serpinh1 A G 7: 98,996,541 (GRCm39) M217T possibly damaging Het
Setbp1 A T 18: 78,900,514 (GRCm39) M1051K probably damaging Het
Slc43a3 A G 2: 84,768,585 (GRCm39) E68G probably damaging Het
Supt5 T C 7: 28,015,249 (GRCm39) N969D probably benign Het
Taf2 A T 15: 54,897,551 (GRCm39) probably benign Het
Tlr2 A G 3: 83,743,981 (GRCm39) F701L probably damaging Het
Trim46 T C 3: 89,149,792 (GRCm39) T222A probably benign Het
Tshz3 A T 7: 36,469,075 (GRCm39) N355Y possibly damaging Het
Vmn2r3 A G 3: 64,178,620 (GRCm39) probably benign Het
Xkr9 A T 1: 13,742,997 (GRCm39) probably benign Het
Zfhx3 C T 8: 109,682,374 (GRCm39) A3271V unknown 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
IGL01701:Adk APN 14 21,153,922 (GRCm39) missense probably damaging 1.00
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 2015-04-16