Incidental Mutation 'R1452:Akt3'
ID 161043
Institutional Source Beutler Lab
Gene Symbol Akt3
Ensembl Gene ENSMUSG00000019699
Gene Name thymoma viral proto-oncogene 3
Synonyms Nmf350, PKB gamma, D930002M15Rik
MMRRC Submission 039507-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R1452 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 176847639-177085769 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 176958633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 26 (Y26N)
Ref Sequence ENSEMBL: ENSMUSP00000106790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019843] [ENSMUST00000111159] [ENSMUST00000111160]
AlphaFold Q9WUA6
Predicted Effect possibly damaging
Transcript: ENSMUST00000019843
AA Change: Y26N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019843
Gene: ENSMUSG00000019699
AA Change: Y26N

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 possibly damaging
Transcript: ENSMUST00000111159
AA Change: Y26N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106789
Gene: ENSMUSG00000019699
AA Change: Y26N

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 possibly damaging
Transcript: ENSMUST00000111160
AA Change: Y26N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106790
Gene: ENSMUSG00000019699
AA Change: Y26N

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: ENSMUST00000194121
Meta Mutation Damage Score 0.9741 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,015 (GRCm39) I1446M probably benign Het
Acaca T A 11: 84,185,885 (GRCm39) probably benign Het
Adgre4 A T 17: 56,091,996 (GRCm39) E85D probably benign Het
Arl15 T C 13: 114,104,319 (GRCm39) V132A probably benign Het
Atp6v1h A G 1: 5,168,360 (GRCm39) probably benign Het
Atrip T A 9: 108,901,727 (GRCm39) D110V probably damaging Het
Bahcc1 T G 11: 120,173,065 (GRCm39) probably benign Het
Cd53 C T 3: 106,676,275 (GRCm39) G31S probably damaging Het
Cdk14 T C 5: 4,938,927 (GRCm39) S404G possibly damaging Het
Cers3 A T 7: 66,433,152 (GRCm39) K156N probably damaging Het
Colgalt2 C A 1: 152,379,904 (GRCm39) L448M probably damaging Het
Cox15 G T 19: 43,735,344 (GRCm39) T141K probably damaging Het
Csnk2a2 C T 8: 96,184,003 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,624,813 (GRCm39) probably benign Het
Cyp2c55 A G 19: 38,999,534 (GRCm39) Y80C probably damaging Het
Depdc1a A G 3: 159,232,328 (GRCm39) Y693C possibly damaging Het
Des T C 1: 75,340,121 (GRCm39) S343P probably damaging Het
Dync1i2 T C 2: 71,080,207 (GRCm39) probably benign Het
Eif3m T A 2: 104,837,122 (GRCm39) Q199L probably damaging Het
Emsy G T 7: 98,249,881 (GRCm39) T802K probably damaging Het
Endov A G 11: 119,382,651 (GRCm39) T33A probably damaging Het
Epb41l5 G A 1: 119,476,896 (GRCm39) T728I probably damaging Het
Fbxo39 A G 11: 72,209,228 (GRCm39) I363V probably benign Het
Gm8674 C T 13: 50,054,553 (GRCm39) noncoding transcript Het
Il6st T A 13: 112,617,998 (GRCm39) N137K possibly damaging Het
Inf2 A G 12: 112,567,778 (GRCm39) N136S probably damaging Het
Iqub A T 6: 24,491,558 (GRCm39) I376N probably benign Het
Kansl3 A G 1: 36,393,874 (GRCm39) probably benign Het
Kbtbd2 A T 6: 56,758,909 (GRCm39) H71Q probably damaging Het
Lgals8 G T 13: 12,468,208 (GRCm39) Y140* probably null Het
Mab21l4 T C 1: 93,080,661 (GRCm39) Y415C probably damaging Het
Macf1 T A 4: 123,387,791 (GRCm39) I924L probably benign Het
Mcoln2 A T 3: 145,887,569 (GRCm39) T329S possibly damaging Het
Mex3d A T 10: 80,217,354 (GRCm39) L621Q probably damaging Het
Mmut A G 17: 41,248,359 (GRCm39) probably benign Het
Ncor1 T C 11: 62,225,457 (GRCm39) H1038R probably damaging Het
Neb A G 2: 52,161,309 (GRCm39) probably null Het
Ngrn A G 7: 79,914,520 (GRCm39) T224A probably benign Het
Nin G A 12: 70,064,424 (GRCm39) R2019* probably null Het
Nphp4 C G 4: 152,631,475 (GRCm39) Q792E probably damaging Het
Or13e8 C T 4: 43,696,823 (GRCm39) V117M probably benign Het
Or2z9 C T 8: 72,854,020 (GRCm39) Q139* probably null Het
Or4c3d C T 2: 89,882,015 (GRCm39) V218I possibly damaging Het
Or5d38 C T 2: 87,954,655 (GRCm39) V225I probably benign Het
Or8k3 T A 2: 86,058,799 (GRCm39) N172I probably damaging Het
Pde4dip C A 3: 97,631,418 (GRCm39) V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Ppp2r5e A G 12: 75,516,310 (GRCm39) probably benign Het
Prim2 T A 1: 33,669,485 (GRCm39) E163D probably benign Het
Prrc2b A T 2: 32,084,997 (GRCm39) D296V probably damaging Het
Pter A G 2: 12,983,432 (GRCm39) probably benign Het
Resf1 A T 6: 149,228,130 (GRCm39) K392I probably damaging Het
Robo2 C A 16: 73,758,798 (GRCm39) V662L probably damaging Het
Sirpd G T 3: 15,397,212 (GRCm39) T24K unknown Het
Slco1b2 A T 6: 141,617,926 (GRCm39) I424F probably benign Het
Snx29 A T 16: 11,449,335 (GRCm39) H260L probably damaging Het
Stil A G 4: 114,896,392 (GRCm39) N959S probably benign Het
Taar8c A T 10: 23,977,508 (GRCm39) D101E probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 G A 9: 8,653,148 (GRCm39) M573I probably damaging Het
Tsr1 A T 11: 74,790,425 (GRCm39) D171V probably benign Het
Ube4b T C 4: 149,455,626 (GRCm39) T348A probably damaging Het
Vmn1r85 A T 7: 12,818,808 (GRCm39) I112N probably damaging Het
Vps36 A G 8: 22,708,226 (GRCm39) probably null Het
Wdfy3 G A 5: 102,085,604 (GRCm39) A630V possibly damaging Het
Wdsub1 A T 2: 59,707,144 (GRCm39) D14E probably null Het
Ylpm1 T C 12: 85,077,157 (GRCm39) I1294T possibly damaging Het
Zdhhc17 A G 10: 110,790,936 (GRCm39) F378L probably benign 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
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
R5097:Akt3 UTSW 1 177,076,254 (GRCm39) missense probably benign 0.01
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'- ATGCTGGTTTCTCAGATCCATACACAC -3'
(R):5'- TCTTTCCCCTTGTTTGGAAAACAAAAGC -3'

Sequencing Primer
(F):5'- TTTCTCAGATCCATACACACACCTG -3'
(R):5'- GGAACATGTATTTCACACTCTGC -3'
Posted On 2014-03-14