Incidental Mutation 'R1515:Akt2'
| ID |
168220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt2
|
| Ensembl Gene |
ENSMUSG00000004056 |
| Gene Name |
thymoma viral proto-oncogene 2 |
| Synonyms |
PKB, 2410016A19Rik, PKBbeta |
| MMRRC Submission |
039562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R1515 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27290977-27340251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27336583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 401
(T401A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051356]
[ENSMUST00000085917]
[ENSMUST00000108342]
[ENSMUST00000108343]
[ENSMUST00000108344]
[ENSMUST00000136962]
[ENSMUST00000167435]
|
| AlphaFold |
Q60823 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051356
AA Change: T444A
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
AA Change: T444A
| 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 damaging
Transcript: ENSMUST00000085917
AA Change: T401A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083081
Gene: ENSMUSG00000004056
AA Change: T401A
| 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 |
possibly damaging
Transcript: ENSMUST00000108343
AA Change: T444A
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
AA Change: T444A
| 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: ENSMUST00000108344
AA Change: T444A
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
AA Change: T444A
| 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 |
noncoding transcript
Transcript: ENSMUST00000136981
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167435
AA Change: T444A
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
AA Change: T444A
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap32 |
G |
T |
9: 32,027,498 (GRCm39) |
V23L |
probably benign |
Het |
| Atmin |
T |
A |
8: 117,681,579 (GRCm39) |
C193S |
possibly damaging |
Het |
| Atp13a5 |
C |
T |
16: 29,152,792 (GRCm39) |
V225I |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,008,526 (GRCm39) |
V350A |
possibly damaging |
Het |
| Birc6 |
G |
T |
17: 74,835,631 (GRCm39) |
E29* |
probably null |
Het |
| Bnc2 |
T |
C |
4: 84,332,563 (GRCm39) |
N104S |
probably null |
Het |
| C030048H21Rik |
T |
C |
2: 26,147,515 (GRCm39) |
|
probably null |
Het |
| Cd320 |
G |
T |
17: 34,066,613 (GRCm39) |
C117F |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,510,133 (GRCm39) |
S542P |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,747,048 (GRCm39) |
T1587A |
probably benign |
Het |
| Defb41 |
T |
C |
1: 18,330,817 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,190,384 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,353,355 (GRCm39) |
N2836S |
probably benign |
Het |
| Dpp8 |
G |
A |
9: 64,986,030 (GRCm39) |
S840N |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,167,758 (GRCm39) |
F111L |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,178,622 (GRCm39) |
I261F |
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,678,819 (GRCm39) |
V509A |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,671,808 (GRCm39) |
M103T |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,240,063 (GRCm39) |
H1064R |
probably damaging |
Het |
| Engase |
T |
C |
11: 118,377,966 (GRCm39) |
V252A |
possibly damaging |
Het |
| F13b |
A |
G |
1: 139,438,703 (GRCm39) |
Y369C |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,612,432 (GRCm39) |
|
probably null |
Het |
| Fzd10 |
T |
A |
5: 128,679,623 (GRCm39) |
F448I |
probably damaging |
Het |
| Gpr35 |
T |
G |
1: 92,910,770 (GRCm39) |
F161V |
probably damaging |
Het |
| Gprin2 |
T |
C |
14: 33,917,230 (GRCm39) |
D180G |
possibly damaging |
Het |
| Grik3 |
A |
G |
4: 125,564,521 (GRCm39) |
N501S |
probably benign |
Het |
| Hells |
A |
G |
19: 38,956,209 (GRCm39) |
K802E |
probably damaging |
Het |
| Il1r1 |
T |
A |
1: 40,332,509 (GRCm39) |
C96* |
probably null |
Het |
| Kcnk16 |
T |
A |
14: 20,315,345 (GRCm39) |
I73F |
probably damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,472,905 (GRCm39) |
S652P |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,830,763 (GRCm39) |
D1500G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,272,273 (GRCm39) |
F6468L |
probably damaging |
Het |
| Mgrn1 |
T |
A |
16: 4,733,644 (GRCm39) |
F198I |
probably benign |
Het |
| Mmp3 |
A |
G |
9: 7,451,232 (GRCm39) |
T323A |
probably benign |
Het |
| N4bp2 |
A |
G |
5: 65,947,841 (GRCm39) |
Y157C |
probably benign |
Het |
| Nfkbid |
C |
A |
7: 30,124,781 (GRCm39) |
H190Q |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,313,148 (GRCm39) |
V184A |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,044 (GRCm39) |
S237P |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,337,460 (GRCm39) |
S236P |
probably damaging |
Het |
| Osgin2 |
C |
T |
4: 15,998,380 (GRCm39) |
G414D |
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,813,827 (GRCm39) |
R4097H |
probably benign |
Het |
| Pnkd |
T |
A |
1: 74,388,968 (GRCm39) |
L213Q |
probably null |
Het |
| Ppfibp1 |
A |
G |
6: 146,928,930 (GRCm39) |
H850R |
probably benign |
Het |
| Ppp6r1 |
T |
C |
7: 4,646,257 (GRCm39) |
D148G |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 162,079,954 (GRCm39) |
S282T |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,894,457 (GRCm39) |
V536A |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,387,947 (GRCm39) |
Q383L |
probably benign |
Het |
| Snx29 |
T |
C |
16: 11,217,701 (GRCm39) |
|
probably null |
Het |
| Tmem229b-ps |
T |
A |
10: 53,351,542 (GRCm39) |
|
noncoding transcript |
Het |
| Tmod4 |
A |
T |
3: 95,035,990 (GRCm39) |
Y317F |
possibly damaging |
Het |
| Trim13 |
T |
C |
14: 61,843,108 (GRCm39) |
M375T |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,892,926 (GRCm39) |
S935P |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,064,720 (GRCm39) |
N592D |
probably benign |
Het |
| Vmn2r118 |
A |
G |
17: 55,917,643 (GRCm39) |
Y290H |
probably benign |
Het |
| Vps26b |
A |
G |
9: 26,924,041 (GRCm39) |
M234T |
probably damaging |
Het |
| Zbtb48 |
A |
G |
4: 152,104,658 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
A |
10: 115,252,647 (GRCm39) |
F1320Y |
probably benign |
Het |
| Zfp784 |
A |
T |
7: 5,039,039 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAAACTCGGTGCAGTGCAG -3'
(R):5'- TGACGATCCTTACAGCAACAGCAG -3'
Sequencing Primer
(F):5'- CATGGAGCATAGATTCTTCCTCAG -3'
(R):5'- TTACAGCAACAGCAGGCTTTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation