Incidental Mutation 'R5097:Akt3'
ID 388062
Institutional Source Beutler Lab
Gene Symbol Akt3
Ensembl Gene ENSMUSG00000019699
Gene Name thymoma viral proto-oncogene 3
Synonyms Nmf350, PKB gamma, D930002M15Rik
MMRRC Submission 042686-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R5097 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 176847639-177085769 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 177076254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 12 (V12L)
Ref Sequence ENSEMBL: ENSMUSP00000106790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019843] [ENSMUST00000111159] [ENSMUST00000111160]
AlphaFold Q9WUA6
Predicted Effect probably benign
Transcript: ENSMUST00000019843
AA Change: V12L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: V12L

DomainStartEndE-ValueType
PH 6 109 4.81e-16 SMART
S_TKc 148 405 3.53e-106 SMART
S_TK_X 406 467 6.37e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111159
AA Change: V12L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000106789
Gene: ENSMUSG00000019699
AA Change: V12L

DomainStartEndE-ValueType
PH 6 109 4.81e-16 SMART
S_TKc 148 405 3.53e-106 SMART
S_TK_X 406 475 2.61e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111160
AA Change: V12L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000106790
Gene: ENSMUSG00000019699
AA Change: V12L

DomainStartEndE-ValueType
PH 6 109 4.81e-16 SMART
S_TKc 148 405 3.53e-106 SMART
S_TK_X 406 475 2.61e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211158
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
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 is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit a 20% decrease in brain size and have smaller and fewer cells in the brain. Mice heterozygous for an ENU-induced mutation exhibit increased seizures (sporadic and induced) and increased brain weight and size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C A 5: 89,840,909 (GRCm39) V805F probably damaging Het
Adgrb3 G A 1: 25,865,165 (GRCm39) T226M probably damaging Het
Ak5 A G 3: 152,187,270 (GRCm39) S406P probably damaging Het
Arhgef40 A C 14: 52,227,146 (GRCm39) S397R probably damaging Het
Atp5f1c A G 2: 10,068,323 (GRCm39) V144A probably benign Het
Ccser1 A G 6: 61,289,144 (GRCm39) S436G probably benign Het
Clgn G T 8: 84,137,152 (GRCm39) V290F possibly damaging Het
Dis3l T A 9: 64,226,498 (GRCm39) D261V probably damaging Het
Dnah11 T A 12: 117,981,435 (GRCm39) Y2577F probably damaging Het
Evi5l A G 8: 4,243,317 (GRCm39) E371G probably damaging Het
Fat2 A G 11: 55,201,530 (GRCm39) S515P probably damaging Het
Fsip2 A G 2: 82,822,329 (GRCm39) I6021V probably benign Het
Ftdc1 A C 16: 58,434,227 (GRCm39) N163K probably benign Het
Gstm5 A T 3: 107,803,258 (GRCm39) probably benign Het
H2-Oa G A 17: 34,312,809 (GRCm39) D29N probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ireb2 A G 9: 54,802,668 (GRCm39) I434M probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Micall1 A G 15: 79,014,078 (GRCm39) T658A probably benign Het
Mitf C T 6: 97,973,423 (GRCm39) A252V possibly damaging Het
Mpzl1 A G 1: 165,433,285 (GRCm39) I122T probably damaging Het
Mtus2 G A 5: 148,232,392 (GRCm39) V146I probably damaging Het
Myh11 C T 16: 14,023,770 (GRCm39) probably null Het
Myrfl A G 10: 116,653,609 (GRCm39) I486T probably damaging Het
N4bp2 T C 5: 65,974,561 (GRCm39) V1477A probably damaging Het
Ndc1 T A 4: 107,231,358 (GRCm39) S100T probably benign Het
Nek10 T A 14: 14,857,851 (GRCm38) N433K probably benign Het
Noc4l C T 5: 110,799,212 (GRCm39) S190N probably benign Het
Nprl2 A G 9: 107,420,731 (GRCm39) E122G probably damaging Het
Or13a19 A G 7: 139,903,008 (GRCm39) Y132C probably damaging Het
Or1e16 G C 11: 73,286,119 (GRCm39) S243C probably damaging Het
Or6n2 C T 1: 173,897,095 (GRCm39) T77I probably benign Het
Osbpl1a T C 18: 12,896,594 (GRCm39) I324V probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Peg3 C T 7: 6,713,026 (GRCm39) R732H probably damaging Het
Rfc4 A G 16: 22,933,046 (GRCm39) I297T possibly damaging Het
Rpl3l T A 17: 24,952,435 (GRCm39) D218E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sesn2 C T 4: 132,224,209 (GRCm39) V400I probably benign Het
Syt11 C T 3: 88,655,231 (GRCm39) V51I probably benign Het
Tas2r115 A C 6: 132,714,216 (GRCm39) L245R probably damaging Het
Tmem115 G A 9: 107,412,059 (GRCm39) V128I probably benign Het
Trim47 A G 11: 115,997,260 (GRCm39) V499A probably benign Het
Trpm7 A T 2: 126,638,256 (GRCm39) probably null Het
Zfp143 A G 7: 109,687,998 (GRCm39) D479G probably damaging Het
Zfp292 T C 4: 34,839,878 (GRCm39) T91A possibly damaging Het
Other mutations in Akt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Akt3 APN 1 176,958,533 (GRCm39) splice site probably benign
IGL02348:Akt3 APN 1 176,886,952 (GRCm39) missense probably damaging 0.99
IGL02394:Akt3 APN 1 176,886,985 (GRCm39) missense probably damaging 1.00
IGL03005:Akt3 APN 1 176,894,793 (GRCm39) missense probably damaging 1.00
R0114:Akt3 UTSW 1 176,894,817 (GRCm39) missense probably damaging 1.00
R1403:Akt3 UTSW 1 176,958,676 (GRCm39) splice site probably benign
R1452:Akt3 UTSW 1 176,958,633 (GRCm39) missense possibly damaging 0.93
R1495:Akt3 UTSW 1 176,930,608 (GRCm39) missense probably benign
R1961:Akt3 UTSW 1 176,924,561 (GRCm39) missense probably damaging 0.97
R2062:Akt3 UTSW 1 176,930,551 (GRCm39) missense possibly damaging 0.93
R2064:Akt3 UTSW 1 176,930,551 (GRCm39) missense possibly damaging 0.93
R2066:Akt3 UTSW 1 176,930,551 (GRCm39) missense possibly damaging 0.93
R2068:Akt3 UTSW 1 176,930,551 (GRCm39) missense possibly damaging 0.93
R4155:Akt3 UTSW 1 176,924,543 (GRCm39) missense possibly damaging 0.92
R4937:Akt3 UTSW 1 176,877,693 (GRCm39) missense possibly damaging 0.89
R5414:Akt3 UTSW 1 176,877,817 (GRCm39) missense probably damaging 0.98
R6336:Akt3 UTSW 1 176,859,278 (GRCm39) missense probably damaging 1.00
R6723:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6752:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6753:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6755:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6765:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6766:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6767:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6782:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6787:Akt3 UTSW 1 176,877,756 (GRCm39) nonsense probably null
R6847:Akt3 UTSW 1 176,859,225 (GRCm39) missense probably damaging 1.00
R7525:Akt3 UTSW 1 176,847,673 (GRCm39) nonsense probably null
R7535:Akt3 UTSW 1 176,924,600 (GRCm39) missense probably damaging 1.00
R8000:Akt3 UTSW 1 176,877,763 (GRCm39) missense probably damaging 1.00
R8326:Akt3 UTSW 1 176,877,611 (GRCm39) missense possibly damaging 0.95
R8947:Akt3 UTSW 1 176,958,645 (GRCm39) missense probably damaging 1.00
R9047:Akt3 UTSW 1 176,886,955 (GRCm39) missense probably damaging 0.98
R9474:Akt3 UTSW 1 176,852,952 (GRCm39) missense probably damaging 1.00
R9564:Akt3 UTSW 1 176,907,769 (GRCm39) missense possibly damaging 0.47
R9680:Akt3 UTSW 1 176,958,639 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GTTTAAATGTAAGCCCTCGCC -3'
(R):5'- AGGCTGAGTCATCACTAGAGAG -3'

Sequencing Primer
(F):5'- CTGTAAAGTCTGTTGAATCTGAAGAC -3'
(R):5'- CTAGAGAGTGGGAAGGGCG -3'
Posted On 2016-06-06