Incidental Mutation 'IGL03146:Prkaa1'
ID410910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkaa1
Ensembl Gene ENSMUSG00000050697
Gene Nameprotein kinase, AMP-activated, alpha 1 catalytic subunit
SynonymsC130083N04Rik, AMPKalpha1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03146
Quality Score
Status
Chromosome15
Chromosomal Location5143861-5181899 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5168641 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
Ref Sequence ENSEMBL: ENSMUSP00000063166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051186] [ENSMUST00000228218]
Predicted Effect probably damaging
Transcript: ENSMUST00000051186
AA Change: V146A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: V146A

DomainStartEndE-ValueType
S_TKc 27 279 2.23e-103 SMART
low complexity region 305 318 N/A INTRINSIC
Pfam:AdenylateSensor 406 503 1.3e-15 PFAM
low complexity region 516 535 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000228218
AA Change: V137A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle cell glucose uptake. Mice homozygous for a different knock-out allele exhibit anemia, reticulocytosis, splenomegaly, increased erythrocyte turnover, and elevated plasma erythropoietin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A T 6: 50,573,873 V532E probably damaging Het
Adam5 T C 8: 24,804,503 D360G probably damaging Het
Adam6a A T 12: 113,545,524 T506S probably damaging Het
Adamts15 A G 9: 30,921,567 V224A probably damaging Het
Arhgef12 G T 9: 42,974,570 D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ccdc85c G A 12: 108,207,136 R387* probably null Het
Cfap57 T A 4: 118,599,019 I493F probably damaging Het
Chst9 A G 18: 15,452,978 I176T probably damaging Het
Clpx G T 9: 65,326,830 V572L probably benign Het
Csmd3 T A 15: 47,881,477 N1374I probably benign Het
Cyp2e1 T A 7: 140,770,221 M273K probably benign Het
Ehbp1l1 T C 19: 5,720,033 E414G probably benign Het
Ehd1 T C 19: 6,277,338 F122L probably damaging Het
Fcho1 A G 8: 71,717,430 probably benign Het
Fermt3 T C 19: 7,003,263 E312G possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
G3bp2 G A 5: 92,066,540 R132C probably damaging Het
Inpp4b A T 8: 81,743,781 I35F possibly damaging Het
Izumo3 T G 4: 92,145,039 I107L probably damaging Het
Lama3 C A 18: 12,527,624 Q484K possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mapkbp1 T C 2: 119,998,474 probably benign Het
Mast4 T C 13: 102,737,655 N1735S probably benign Het
Olfr1186 T A 2: 88,526,144 M187K possibly damaging Het
Olfr298 T C 7: 86,489,194 D119G probably damaging Het
Oxct1 T C 15: 4,101,148 L374P probably damaging Het
Parp14 G A 16: 35,858,453 Q382* probably null Het
Pax2 A G 19: 44,833,275 probably benign Het
Ptprb C T 10: 116,328,127 A900V probably benign Het
Rgs6 A T 12: 83,052,538 D130V probably damaging Het
Ryr1 C A 7: 29,094,032 R1344L probably benign Het
Scgb1b12 C A 7: 32,334,544 D76E possibly damaging Het
Sel1l3 T A 5: 53,154,243 E633D probably benign Het
Slc1a7 T A 4: 107,992,992 I100N probably damaging Het
Slc25a35 A G 11: 68,968,852 K64E possibly damaging Het
Stil C A 4: 115,024,415 Q719K probably damaging Het
Stim1 T A 7: 102,421,355 L265Q probably damaging Het
Tcrg-V3 C A 13: 19,243,167 Y73* probably null Het
Tmem191c A G 16: 17,277,382 E169G probably damaging Het
Tmem255b T C 8: 13,454,174 L101P probably damaging Het
Zfyve26 G A 12: 79,284,072 Q458* probably null Het
Other mutations in Prkaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Prkaa1 APN 15 5174318 missense probably damaging 1.00
IGL01797:Prkaa1 APN 15 5168706 missense probably damaging 1.00
IGL02442:Prkaa1 APN 15 5176888 missense probably damaging 1.00
IGL02890:Prkaa1 APN 15 5177086 missense possibly damaging 0.91
IGL03396:Prkaa1 APN 15 5176650 missense probably damaging 1.00
pressor UTSW 15 5176956 missense probably damaging 1.00
R1439:Prkaa1 UTSW 15 5164744 missense probably damaging 0.99
R1466:Prkaa1 UTSW 15 5178798 missense probably benign
R1466:Prkaa1 UTSW 15 5178798 missense probably benign
R1804:Prkaa1 UTSW 15 5178778 missense probably benign 0.41
R1807:Prkaa1 UTSW 15 5143954 missense probably damaging 1.00
R4381:Prkaa1 UTSW 15 5176808 missense probably benign
R4398:Prkaa1 UTSW 15 5177161 missense possibly damaging 0.58
R4579:Prkaa1 UTSW 15 5160601 critical splice acceptor site probably null
R4689:Prkaa1 UTSW 15 5178696 missense probably benign
R4832:Prkaa1 UTSW 15 5160620 missense probably damaging 0.96
R4874:Prkaa1 UTSW 15 5174357 missense probably benign 0.16
R4876:Prkaa1 UTSW 15 5174405 missense probably benign 0.44
R5074:Prkaa1 UTSW 15 5176911 missense possibly damaging 0.82
R5260:Prkaa1 UTSW 15 5160668 missense probably damaging 1.00
R5563:Prkaa1 UTSW 15 5169956 missense probably damaging 1.00
R5706:Prkaa1 UTSW 15 5174342 missense probably benign 0.01
R6363:Prkaa1 UTSW 15 5176956 missense probably damaging 1.00
R6825:Prkaa1 UTSW 15 5143950 missense possibly damaging 0.91
R7090:Prkaa1 UTSW 15 5177130 missense probably benign
Posted On2016-08-02