Incidental Mutation 'IGL01403:Adk'
ID 79695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adk
Ensembl Gene ENSMUSG00000039197
Gene Name adenosine kinase
Synonyms AK, 2310026J05Rik, 5033405D03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01403
Quality Score
Status
Chromosome 14
Chromosomal Location 21052574-21448569 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21234915 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 102 (K102R)
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: K118R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000047665
Gene: ENSMUSG00000039197
AA Change: K118R

DomainStartEndE-ValueType
Pfam:PfkB 41 359 1.1e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223915
AA Change: K116R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably damaging
Transcript: ENSMUST00000224069
AA Change: K102R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000224899
AA Change: K109R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,229,170 probably benign Het
Abcb5 A T 12: 118,872,867 L1103Q probably damaging Het
Adam12 T A 7: 133,919,610 Q605L probably benign Het
Afdn C T 17: 13,903,870 P1761S probably damaging Het
Ascc1 A G 10: 60,012,458 probably benign Het
Aspdh A G 7: 44,466,559 probably null Het
Bbx T C 16: 50,202,513 I753V probably benign Het
Ccdc33 T C 9: 58,117,385 Y186C probably damaging Het
Ccdc78 T A 17: 25,788,244 probably null Het
Ckmt1 T C 2: 121,362,966 probably benign Het
Csf1r A G 18: 61,114,825 T322A probably benign Het
Dnah7b T C 1: 46,116,300 probably benign Het
Dr1 A G 5: 108,269,710 N41D possibly damaging Het
Ehmt1 G A 2: 24,839,626 T633I possibly damaging Het
Fgf7 T A 2: 126,035,940 Y76N probably damaging Het
Hmcn1 A T 1: 150,593,097 W5038R probably damaging Het
Ighv14-1 A G 12: 113,932,242 V21A probably damaging Het
Igkv5-37 T A 6: 69,963,436 I75F probably damaging Het
Inhbc T A 10: 127,370,099 I100F probably damaging Het
Irs3 A G 5: 137,645,319 F68L probably damaging Het
Itpr3 T A 17: 27,118,595 C2460S probably damaging Het
Krt34 A G 11: 100,038,290 C365R possibly damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ly6g A G 15: 75,158,648 N82S probably damaging Het
Mrpl58 A T 11: 115,406,578 I72F probably damaging Het
Myo9a G A 9: 59,871,563 R1534H probably damaging Het
Npat T A 9: 53,555,129 F239L probably benign Het
Nsd2 A G 5: 33,885,378 probably benign Het
Nuggc T C 14: 65,623,186 V427A probably benign Het
Olfr476 A G 7: 107,967,621 T75A possibly damaging Het
Olfr690 G A 7: 105,329,398 R265C probably benign Het
Pde4a A T 9: 21,205,116 I467F probably damaging Het
Pkhd1l1 T A 15: 44,483,833 C198* probably null Het
Pla2r1 A G 2: 60,424,288 V1312A probably damaging Het
Pola2 T C 19: 5,959,093 H79R probably benign Het
Pramef20 A T 4: 144,377,133 M141K probably benign Het
Psen2 A T 1: 180,234,983 probably benign Het
Rnf213 A G 11: 119,443,300 K3112E probably damaging Het
Slc6a4 G T 11: 77,031,672 V630L probably benign Het
Smg1 A T 7: 118,158,132 probably benign Het
Tmc8 A G 11: 117,791,074 T510A possibly damaging Het
Usp18 T A 6: 121,268,668 H334Q possibly damaging Het
Vmn2r103 T C 17: 19,792,967 Y117H probably benign Het
Vps13b T A 15: 35,709,479 D1857E probably benign Het
Other mutations in Adk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Adk APN 14 21092393 missense probably damaging 1.00
IGL01701:Adk APN 14 21103854 missense probably damaging 1.00
IGL02405:Adk APN 14 21103831 missense probably benign 0.06
IGL02808:Adk APN 14 21103833 missense probably benign 0.08
jeopardy UTSW 14 21234914 missense probably damaging 0.99
presumption UTSW 14 21240531 missense probably damaging 1.00
R0385:Adk UTSW 14 21318074 missense probably benign 0.01
R0463:Adk UTSW 14 21423536 missense probably benign 0.35
R0904:Adk UTSW 14 21092428 missense probably damaging 0.96
R1448:Adk UTSW 14 21052640 start codon destroyed probably null 0.00
R1695:Adk UTSW 14 21381600 missense probably benign 0.01
R2048:Adk UTSW 14 21318176 missense probably damaging 1.00
R4838:Adk UTSW 14 21369086 missense probably damaging 1.00
R5183:Adk UTSW 14 21240531 missense probably damaging 1.00
R5988:Adk UTSW 14 21423548 missense probably benign 0.03
R6770:Adk UTSW 14 21234914 missense probably damaging 0.99
R6932:Adk UTSW 14 21076308 start codon destroyed probably null 0.23
R7146:Adk UTSW 14 21326614 missense
R7257:Adk UTSW 14 21052671 missense probably damaging 0.99
R7491:Adk UTSW 14 21234929 missense probably damaging 0.96
R7806:Adk UTSW 14 21326611 missense
R7922:Adk UTSW 14 21318043 missense probably benign
R8465:Adk UTSW 14 21103824 missense possibly damaging 0.80
R9709:Adk UTSW 14 21076318 missense probably benign 0.04
Posted On 2013-11-05