Incidental Mutation 'R7461:Akt2'
| ID |
578448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt2
|
| Ensembl Gene |
ENSMUSG00000004056 |
| Gene Name |
thymoma viral proto-oncogene 2 |
| Synonyms |
PKB, 2410016A19Rik, PKBbeta |
| MMRRC Submission |
045535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R7461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27290977-27340251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27336595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 448
(I448V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052103
(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: I448V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
AA Change: I448V
| 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 |
possibly damaging
Transcript: ENSMUST00000085917
AA Change: I405V
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083081
Gene: ENSMUSG00000004056
AA Change: I405V
| 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: I448V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
AA Change: I448V
| 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: I448V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
AA Change: I448V
| 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: I448V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
AA Change: I448V
| 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 |
|
| Meta Mutation Damage Score |
0.0585 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adgrb2 |
CTATA |
CTATATA |
4: 129,915,006 (GRCm39) |
|
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,956,928 (GRCm39) |
T117M |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,115,326 (GRCm39) |
E358G |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,549 (GRCm39) |
K42N |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,788,120 (GRCm39) |
D1605E |
probably benign |
Het |
| Cdkl1 |
T |
A |
12: 69,803,235 (GRCm39) |
I214L |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,302,956 (GRCm39) |
G2506R |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,764,501 (GRCm39) |
R1304* |
probably null |
Het |
| Cfap58 |
A |
G |
19: 47,970,561 (GRCm39) |
D593G |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,107,777 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
G |
T |
1: 93,122,311 (GRCm39) |
A735S |
possibly damaging |
Het |
| Dcc |
A |
T |
18: 71,439,105 (GRCm39) |
L1279H |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,439,816 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
T |
9: 64,960,402 (GRCm39) |
T311M |
possibly damaging |
Het |
| Eps15 |
T |
C |
4: 109,186,922 (GRCm39) |
S330P |
probably damaging |
Het |
| Exoc2 |
C |
T |
13: 31,066,255 (GRCm39) |
V474I |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,194,416 (GRCm39) |
T39A |
unknown |
Het |
| Foxn2 |
T |
C |
17: 88,794,311 (GRCm39) |
I416T |
possibly damaging |
Het |
| Gbp8 |
T |
C |
5: 105,178,880 (GRCm39) |
E145G |
probably damaging |
Het |
| Gjd2 |
A |
C |
2: 113,841,599 (GRCm39) |
S293A |
possibly damaging |
Het |
| Gm3676 |
T |
A |
14: 41,365,233 (GRCm39) |
I141L |
probably benign |
Het |
| Gm4131 |
A |
G |
14: 62,718,538 (GRCm39) |
Y23H |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdac2 |
T |
C |
10: 36,865,232 (GRCm39) |
S149P |
probably damaging |
Het |
| Igsf9b |
A |
T |
9: 27,245,418 (GRCm39) |
R1128S |
probably benign |
Het |
| Invs |
A |
G |
4: 48,392,668 (GRCm39) |
H294R |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,065,211 (GRCm39) |
S122T |
possibly damaging |
Het |
| Kansl3 |
G |
A |
1: 36,382,876 (GRCm39) |
S812F |
probably damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,791,358 (GRCm39) |
H567L |
probably benign |
Het |
| Klhl30 |
G |
T |
1: 91,285,130 (GRCm39) |
V329F |
possibly damaging |
Het |
| Krt33a |
A |
G |
11: 99,902,765 (GRCm39) |
I353T |
probably damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,507,116 (GRCm39) |
H1617Q |
unknown |
Het |
| Lrrc7 |
T |
C |
3: 157,892,657 (GRCm39) |
T331A |
probably benign |
Het |
| Megf10 |
G |
T |
18: 57,385,925 (GRCm39) |
V313F |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,395,978 (GRCm39) |
T1438A |
|
Het |
| Myocd |
A |
G |
11: 65,109,429 (GRCm39) |
L114P |
probably damaging |
Het |
| Or5b21 |
A |
T |
19: 12,839,141 (GRCm39) |
M1L |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,503 (GRCm39) |
E29G |
probably damaging |
Het |
| Por |
G |
T |
5: 135,758,358 (GRCm39) |
A112S |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,304,221 (GRCm39) |
F651S |
probably damaging |
Het |
| Selenoi |
A |
G |
5: 30,471,926 (GRCm39) |
I376V |
possibly damaging |
Het |
| Setbp1 |
A |
C |
18: 78,899,707 (GRCm39) |
M1320R |
probably benign |
Het |
| Skint6 |
A |
T |
4: 113,034,243 (GRCm39) |
|
probably null |
Het |
| Tdrd6 |
T |
C |
17: 43,938,817 (GRCm39) |
T744A |
probably benign |
Het |
| Tmem209 |
C |
T |
6: 30,508,469 (GRCm39) |
W61* |
probably null |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,554,762 (GRCm39) |
|
probably null |
Het |
| Tradd |
T |
C |
8: 105,987,196 (GRCm39) |
K37E |
possibly damaging |
Het |
| Ttc28 |
C |
A |
5: 111,371,995 (GRCm39) |
L846M |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,207,031 (GRCm39) |
C807* |
probably null |
Het |
| Upf2 |
T |
A |
2: 5,978,347 (GRCm39) |
S404T |
unknown |
Het |
| Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
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 |
|
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 |
|
|
R7613:Akt2
|
UTSW |
7 |
27,336,595 (GRCm39) |
missense |
probably benign |
|
|
R8744:Akt2
|
UTSW |
7 |
27,317,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCATCAACTGGCAGGAC -3'
(R):5'- CCATAGTCCTTGACGATCCTTACAG -3'
Sequencing Primer
(F):5'- TCAACTGGCAGGACGTGGTAC -3'
(R):5'- TTACAGCAACAGCAGGCTTTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation