Incidental Mutation 'IGL01358:Akt2'
ID75624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akt2
Ensembl Gene ENSMUSG00000004056
Gene Namethymoma viral proto-oncogene 2
SynonymsPKBbeta, PKB, 2410016A19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.881) question?
Stock #IGL01358
Quality Score
Status
Chromosome7
Chromosomal Location27591552-27640826 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27636154 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 316 (Y316C)
Ref Sequence ENSEMBL: ENSMUSP00000132141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051356] [ENSMUST00000085917] [ENSMUST00000108342] [ENSMUST00000108343] [ENSMUST00000108344] [ENSMUST00000136962] [ENSMUST00000167435]
Predicted Effect probably damaging
Transcript: ENSMUST00000051356
AA Change: Y316C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
AA Change: Y316C

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
SMART Domains Protein: ENSMUSP00000083081
Gene: ENSMUSG00000004056

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 damaging
Transcript: ENSMUST00000108343
AA Change: Y316C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
AA Change: Y316C

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 damaging
Transcript: ENSMUST00000108344
AA Change: Y316C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
AA Change: Y316C

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 noncoding transcript
Transcript: ENSMUST00000136981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143347
Predicted Effect probably damaging
Transcript: ENSMUST00000167435
AA Change: Y316C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
AA Change: Y316C

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
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
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Clk3 T C 9: 57,754,592 T391A probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Kctd21 T A 7: 97,347,374 L18Q probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mafk T C 5: 139,800,493 S149P probably damaging Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Parp11 C T 6: 127,471,563 Q48* probably null Het
Pgc T C 17: 47,730,666 V175A probably benign Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Ppp1r12b A T 1: 134,892,159 L282Q probably damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rtn4r G T 16: 18,151,396 M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Zkscan4 G A 13: 21,484,305 E309K possibly damaging Het
Other mutations in Akt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01981:Akt2 APN 7 27638074 missense probably benign 0.04
IGL02340:Akt2 APN 7 27629399 missense probably damaging 1.00
IGL02794:Akt2 APN 7 27629381 missense probably benign 0.00
sessile UTSW 7 27633241 missense probably damaging 1.00
Slothful UTSW 7 27616349 missense possibly damaging 0.95
R0013:Akt2 UTSW 7 27636058 missense probably damaging 1.00
R0129:Akt2 UTSW 7 27636970 missense probably damaging 1.00
R0355:Akt2 UTSW 7 27636909 splice site probably benign
R1515:Akt2 UTSW 7 27637158 missense probably damaging 1.00
R2207:Akt2 UTSW 7 27637200 splice site probably null
R2921:Akt2 UTSW 7 27628986 missense probably benign 0.01
R4953:Akt2 UTSW 7 27638172 unclassified probably null
R5495:Akt2 UTSW 7 27636169 critical splice donor site probably null
R5577:Akt2 UTSW 7 27636306 missense probably damaging 1.00
R6494:Akt2 UTSW 7 27616349 missense possibly damaging 0.95
R6987:Akt2 UTSW 7 27633241 missense probably damaging 1.00
R7034:Akt2 UTSW 7 27637012 critical splice donor site probably null
R7036:Akt2 UTSW 7 27637012 critical splice donor site probably null
R7461:Akt2 UTSW 7 27637170 missense probably benign
Posted On2013-10-07