Incidental Mutation 'IGL01981:Akt2'
ID 183511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akt2
Ensembl Gene ENSMUSG00000004056
Gene Name thymoma viral proto-oncogene 2
Synonyms PKB, 2410016A19Rik, PKBbeta
Accession Numbers
Essential gene? Probably essential (E-score: 0.908) question?
Stock # IGL01981
Quality Score
Status
Chromosome 7
Chromosomal Location 27290977-27340251 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 27337499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 417 (D417A)
Ref Sequence ENSEMBL: ENSMUSP00000083081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051356] [ENSMUST00000085917] [ENSMUST00000108342] [ENSMUST00000108343] [ENSMUST00000108344] [ENSMUST00000136962] [ENSMUST00000167435]
AlphaFold Q60823
Predicted Effect probably benign
Transcript: ENSMUST00000051356
AA Change: D460A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
AA Change: D460A

DomainStartEndE-ValueType
PH 6 110 3.05e-18 SMART
S_TKc 152 409 1.23e-105 SMART
S_TK_X 410 477 1.16e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085917
AA Change: D417A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000083081
Gene: ENSMUSG00000004056
AA Change: D417A

DomainStartEndE-ValueType
PH 6 110 3.05e-18 SMART
Pfam:Pkinase 152 279 4.4e-32 PFAM
Pfam:Pkinase_Tyr 152 279 7.7e-15 PFAM
Pfam:Pkinase_Tyr 276 351 7e-6 PFAM
Pfam:Pkinase 277 366 1.3e-16 PFAM
S_TK_X 367 434 1.16e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108342
SMART Domains Protein: ENSMUSP00000103979
Gene: ENSMUSG00000004056

DomainStartEndE-ValueType
PH 6 110 3.05e-18 SMART
Pfam:Pkinase 142 222 1.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108343
AA Change: D460A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
AA Change: D460A

DomainStartEndE-ValueType
PH 6 110 3.05e-18 SMART
S_TKc 152 409 1.23e-105 SMART
S_TK_X 410 477 1.16e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108344
AA Change: D460A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
AA Change: D460A

DomainStartEndE-ValueType
PH 6 110 3.05e-18 SMART
S_TKc 152 409 1.23e-105 SMART
S_TK_X 410 477 1.16e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136962
SMART Domains Protein: ENSMUSP00000117682
Gene: ENSMUSG00000004056

DomainStartEndE-ValueType
PH 6 110 3.05e-18 SMART
Pfam:Pkinase 152 229 9.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167435
AA Change: D460A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
AA Change: D460A

DomainStartEndE-ValueType
PH 6 110 3.05e-18 SMART
S_TKc 152 409 1.23e-105 SMART
S_TK_X 410 477 1.16e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143347
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 is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit insulin resistance and elevated plasma triglycerides. In males, the insulin resistance may progress to overt diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Akt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Akt2 APN 7 27,335,579 (GRCm39) missense probably damaging 1.00
IGL02340:Akt2 APN 7 27,328,824 (GRCm39) missense probably damaging 1.00
IGL02794:Akt2 APN 7 27,328,806 (GRCm39) missense probably benign 0.00
Pedunculated UTSW 7 27,336,595 (GRCm39) missense probably benign
perezoso UTSW 7 27,335,483 (GRCm39) missense probably damaging 1.00
Sessile UTSW 7 27,332,666 (GRCm39) missense probably damaging 1.00
Slothful UTSW 7 27,315,774 (GRCm39) missense possibly damaging 0.95
R0013:Akt2 UTSW 7 27,335,483 (GRCm39) missense probably damaging 1.00
R0129:Akt2 UTSW 7 27,336,395 (GRCm39) missense probably damaging 1.00
R0355:Akt2 UTSW 7 27,336,334 (GRCm39) splice site probably benign
R1515:Akt2 UTSW 7 27,336,583 (GRCm39) missense probably damaging 1.00
R2207:Akt2 UTSW 7 27,336,625 (GRCm39) splice site probably null
R2921:Akt2 UTSW 7 27,328,411 (GRCm39) missense probably benign 0.01
R4953:Akt2 UTSW 7 27,337,597 (GRCm39) splice site probably null
R5495:Akt2 UTSW 7 27,335,594 (GRCm39) critical splice donor site probably null
R5577:Akt2 UTSW 7 27,335,731 (GRCm39) missense probably damaging 1.00
R6494:Akt2 UTSW 7 27,315,774 (GRCm39) missense possibly damaging 0.95
R6987:Akt2 UTSW 7 27,332,666 (GRCm39) missense probably damaging 1.00
R7034:Akt2 UTSW 7 27,336,437 (GRCm39) critical splice donor site probably null
R7036:Akt2 UTSW 7 27,336,437 (GRCm39) critical splice donor site probably null
R7461:Akt2 UTSW 7 27,336,595 (GRCm39) missense probably benign
R7613:Akt2 UTSW 7 27,336,595 (GRCm39) missense probably benign
R8744:Akt2 UTSW 7 27,317,738 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07