Incidental Mutation 'IGL02794:Akt2'
| ID |
359890 |
| 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 # |
IGL02794
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
27290977-27340251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 27328806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 176
(R176L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051356]
[ENSMUST00000085917]
[ENSMUST00000108342]
[ENSMUST00000108343]
[ENSMUST00000108344]
[ENSMUST00000128540]
[ENSMUST00000136962]
[ENSMUST00000167435]
[ENSMUST00000143499]
|
| AlphaFold |
Q60823 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051356
AA Change: R176L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
AA Change: R176L
| 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: R176L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000083081
Gene: ENSMUSG00000004056
AA Change: R176L
| 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
AA Change: R163L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103979
Gene: ENSMUSG00000004056
AA Change: R163L
| 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: R176L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
AA Change: R176L
| 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: R176L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
AA Change: R176L
| 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: ENSMUST00000128540
|
| SMART Domains |
Protein: ENSMUSP00000122716
Gene: ENSMUSG00000004056
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
91 |
1.22e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136962
AA Change: R176L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117682
Gene: ENSMUSG00000004056
AA Change: R176L
| 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: R176L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
AA Change: R176L
| 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: ENSMUST00000143347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143499
|
| SMART Domains |
Protein: ENSMUSP00000117119
Gene: ENSMUSG00000004056
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1P6S|A
|
1 |
64 |
9e-35 |
PDB |
|
Blast:PH
|
6 |
64 |
2e-32 |
BLAST |
|
SCOP:d1dro__
|
12 |
64 |
8e-7 |
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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,621,385 (GRCm39) |
C1082S |
probably benign |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,209 (GRCm39) |
S280P |
possibly damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,071,653 (GRCm39) |
M481V |
probably benign |
Het |
| Atraid |
G |
A |
5: 31,210,214 (GRCm39) |
S135N |
probably damaging |
Het |
| Camta2 |
C |
T |
11: 70,566,484 (GRCm39) |
G677D |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,319,614 (GRCm39) |
N545S |
probably benign |
Het |
| Cic |
A |
G |
7: 24,985,069 (GRCm39) |
D1105G |
probably damaging |
Het |
| Crisp1 |
A |
T |
17: 40,623,957 (GRCm39) |
M4K |
unknown |
Het |
| Crnkl1 |
C |
T |
2: 145,772,532 (GRCm39) |
E182K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,847,847 (GRCm39) |
C114S |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,174,788 (GRCm39) |
Y496N |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,309,910 (GRCm39) |
V1528A |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,752 (GRCm39) |
T88M |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,041,928 (GRCm39) |
N767S |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,829 (GRCm39) |
T30A |
unknown |
Het |
| Gorasp2 |
C |
A |
2: 70,509,838 (GRCm39) |
Y166* |
probably null |
Het |
| Gucy2c |
T |
A |
6: 136,690,146 (GRCm39) |
Q744L |
probably damaging |
Het |
| Heg1 |
A |
T |
16: 33,546,992 (GRCm39) |
N593I |
probably damaging |
Het |
| Ice1 |
T |
A |
13: 70,757,278 (GRCm39) |
S236C |
possibly damaging |
Het |
| Il12b |
T |
C |
11: 44,298,808 (GRCm39) |
Y88H |
probably damaging |
Het |
| Izumo3 |
C |
T |
4: 92,035,200 (GRCm39) |
V6I |
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,715,515 (GRCm39) |
V458A |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,040,889 (GRCm39) |
R1659Q |
probably benign |
Het |
| Klk1b1 |
A |
G |
7: 43,619,789 (GRCm39) |
D116G |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,917,227 (GRCm39) |
T2233A |
possibly damaging |
Het |
| Lin9 |
A |
T |
1: 180,479,444 (GRCm39) |
K59N |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,838,709 (GRCm39) |
E1083G |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,776,770 (GRCm39) |
I1768N |
possibly damaging |
Het |
| Mical3 |
C |
A |
6: 120,984,270 (GRCm39) |
G202V |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,806,911 (GRCm39) |
I1719F |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,867 (GRCm39) |
F120Y |
possibly damaging |
Het |
| Or52e8 |
T |
A |
7: 104,624,596 (GRCm39) |
M203L |
probably benign |
Het |
| Or8b56 |
T |
A |
9: 38,739,511 (GRCm39) |
C175S |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,492 (GRCm39) |
T256A |
possibly damaging |
Het |
| Pidd1 |
T |
C |
7: 141,023,021 (GRCm39) |
Y57C |
probably benign |
Het |
| Pik3cd |
T |
A |
4: 149,739,028 (GRCm39) |
M671L |
probably benign |
Het |
| Ppp5c |
A |
G |
7: 16,740,885 (GRCm39) |
V361A |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,096,725 (GRCm39) |
V743A |
probably benign |
Het |
| Siglec1 |
C |
A |
2: 130,917,889 (GRCm39) |
S996I |
possibly damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,957,206 (GRCm39) |
R948G |
possibly damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,668 (GRCm39) |
Y537* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,584,638 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,944,760 (GRCm39) |
P1109S |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,975,070 (GRCm39) |
N513Y |
probably damaging |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
T |
C |
7: 127,603,704 (GRCm39) |
C17R |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,268,785 (GRCm39) |
C1956R |
probably damaging |
Het |
| Vmn1r211 |
G |
T |
13: 23,036,379 (GRCm39) |
T96N |
possibly damaging |
Het |
| Vmn1r211 |
C |
A |
13: 23,036,376 (GRCm39) |
S97I |
probably damaging |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,377 (GRCm39) |
S97C |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,623 (GRCm39) |
S596T |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,611,602 (GRCm39) |
S454P |
possibly damaging |
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 |
|
IGL01981:Akt2
|
APN |
7 |
27,337,499 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02340:Akt2
|
APN |
7 |
27,328,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation