Incidental Mutation 'R5260:Prkaa1'
ID401398
Institutional Source Beutler Lab
Gene Symbol Prkaa1
Ensembl Gene ENSMUSG00000050697
Gene Nameprotein kinase, AMP-activated, alpha 1 catalytic subunit
SynonymsC130083N04Rik, AMPKalpha1
MMRRC Submission 042829-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5260 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location5143861-5181899 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5160668 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 65 (S65C)
Ref Sequence ENSEMBL: ENSMUSP00000063166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051186] [ENSMUST00000228218]
Predicted Effect probably damaging
Transcript: ENSMUST00000051186
AA Change: S65C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: S65C

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 probably damaging
Transcript: ENSMUST00000228218
AA Change: S56C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.2539 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (77/78)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik A T 1: 93,159,978 V51E probably damaging Het
Abraxas2 A T 7: 132,859,274 I14F probably damaging Het
Acin1 T C 14: 54,642,822 probably benign Het
Adamts9 C A 6: 92,807,137 V1579L probably benign Het
Adra2a T A 19: 54,046,608 C132S probably damaging Het
Aif1 T A 17: 35,171,941 probably null Het
Atf5 A T 7: 44,815,086 Y27* probably null Het
Atm A G 9: 53,506,611 S799P probably damaging Het
Bmp2k T G 5: 97,087,351 probably benign Het
Chaf1a C T 17: 56,065,000 H723Y probably damaging Het
Clint1 T C 11: 45,907,942 W493R probably damaging Het
Cyb561a3 T A 19: 10,587,866 V198D possibly damaging Het
Cyp2j8 T C 4: 96,501,064 E174G possibly damaging Het
Cyp4v3 C T 8: 45,306,980 G512S probably damaging Het
Dnah8 T A 17: 30,700,419 V1122D probably benign Het
Doc2b C A 11: 75,786,163 G128V probably damaging Het
Dysf T C 6: 84,150,034 V1378A probably damaging Het
Efcab5 A T 11: 77,137,651 S421T possibly damaging Het
Efcab6 T G 15: 83,945,123 D672A probably benign Het
Eif2ak3 C A 6: 70,893,129 H933Q probably damaging Het
Erc1 A T 6: 119,761,159 N574K probably damaging Het
Eri2 A T 7: 119,787,846 probably benign Het
Faxc A G 4: 21,948,744 Y152C probably damaging Het
Fbxl7 T A 15: 26,543,499 Y354F probably damaging Het
Fras1 T A 5: 96,735,187 I2526N possibly damaging Het
Gm1966 A G 7: 106,599,204 noncoding transcript Het
Gm5424 A T 10: 62,071,595 noncoding transcript Het
Gm6728 T C 6: 136,486,703 noncoding transcript Het
Golgb1 A T 16: 36,913,141 S917C probably benign Het
Gtpbp3 T C 8: 71,489,418 probably benign Het
Gusb A T 5: 129,999,988 Y220* probably null Het
Hmcn1 A G 1: 150,595,861 V4914A possibly damaging Het
Iars2 C A 1: 185,323,734 C211F probably damaging Het
Kif5b A G 18: 6,211,058 L802P probably damaging Het
Kif5c A G 2: 49,735,590 E624G probably damaging Het
Kmt2d G T 15: 98,842,860 probably benign Het
Krt82 C A 15: 101,548,388 G186C possibly damaging Het
Lca5 G A 9: 83,423,223 R177C probably damaging Het
Mier1 T C 4: 103,162,710 S318P probably benign Het
Obscn A T 11: 59,003,369 I1207N probably damaging Het
Olfr1161 A C 2: 88,025,474 I251L probably benign Het
Olfr1261 A G 2: 89,994,182 D263G probably damaging Het
Olfr1302 A G 2: 111,781,181 Y287C probably damaging Het
Olfr607 A G 7: 103,460,615 F198L probably benign Het
Oog4 C T 4: 143,437,854 G369D probably benign Het
Plec T C 15: 76,176,624 T3060A probably damaging Het
Plekhh2 C T 17: 84,577,165 T769I probably damaging Het
Psma3 T C 12: 70,984,642 probably benign Het
Ptpn18 T A 1: 34,463,510 probably benign Het
Ptprv T C 1: 135,112,260 noncoding transcript Het
Rac1 C A 5: 143,508,131 V104L probably benign Het
Serpinb7 A T 1: 107,434,749 N61I possibly damaging Het
Sirt7 A C 11: 120,620,521 probably benign Het
Srl G A 16: 4,482,895 R333* probably null Het
Srprb A T 9: 103,201,920 L756Q probably damaging Het
Tchhl1 T C 3: 93,470,795 S269P probably damaging Het
Tdo2 C T 3: 81,975,323 probably null Het
Teddm1a T C 1: 153,891,900 Y37H probably benign Het
Tenm3 T C 8: 48,236,855 Y1899C probably damaging Het
Tep1 T C 14: 50,838,631 T1681A probably benign Het
Timm44 G T 8: 4,275,919 probably null Het
Trp73 A G 4: 154,062,602 V322A possibly damaging Het
Tsr1 A C 11: 74,905,955 E611A probably damaging Het
Unc80 A G 1: 66,646,587 N2290S possibly damaging Het
Ush2a T C 1: 188,947,079 V4828A possibly damaging Het
Vps51 T G 19: 6,071,033 E283D probably benign Het
Wnt9b C A 11: 103,732,049 S176I possibly damaging Het
Zfp329 A G 7: 12,806,526 probably benign Het
Zfp352 T A 4: 90,224,460 V279D probably damaging Het
Zfp932 C T 5: 110,009,635 Q400* probably null Het
Zxdc T A 6: 90,382,093 L569Q probably damaging 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
IGL03146:Prkaa1 APN 15 5168641 missense probably damaging 0.99
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
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
R7921:Prkaa1 UTSW 15 5177151 missense probably damaging 1.00
R7989:Prkaa1 UTSW 15 5176685 missense probably damaging 1.00
R8289:Prkaa1 UTSW 15 5177082 missense possibly damaging 0.88
R8314:Prkaa1 UTSW 15 5178873 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGATGCTCCAGTATCTTCTGAGTG -3'
(R):5'- AAGAGCTGGGCTTACAGTTTG -3'

Sequencing Primer
(F):5'- GCTCCAGTATCTTCTGAGTGTTTAGC -3'
(R):5'- ATAAGAGGTGGACTTACAGTTTGATG -3'
Posted On2016-07-06