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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |