Incidental Mutation 'R5577:Akt2'
| ID |
437253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt2
|
| Ensembl Gene |
ENSMUSG00000004056 |
| Gene Name |
thymoma viral proto-oncogene 2 |
| Synonyms |
PKB, 2410016A19Rik, PKBbeta |
| MMRRC Submission |
043132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R5577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27290977-27340251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27335731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 335
(G335R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051356]
[ENSMUST00000085917]
[ENSMUST00000108342]
[ENSMUST00000108343]
[ENSMUST00000108344]
[ENSMUST00000136962]
[ENSMUST00000167435]
|
| AlphaFold |
Q60823 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051356
AA Change: G335R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
AA Change: G335R
| 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: G292R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083081
Gene: ENSMUSG00000004056
AA Change: G292R
| 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 damaging
Transcript: ENSMUST00000108343
AA Change: G335R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
AA Change: G335R
| 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: ENSMUST00000108344
AA Change: G335R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
AA Change: G335R
| 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 |
probably damaging
Transcript: ENSMUST00000167435
AA Change: G335R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
AA Change: G335R
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
C |
7: 127,835,826 (GRCm39) |
Y256D |
probably damaging |
Het |
| Acr |
C |
A |
15: 89,458,441 (GRCm39) |
T374K |
probably benign |
Het |
| Ccn3 |
T |
A |
15: 54,615,897 (GRCm39) |
I354N |
possibly damaging |
Het |
| Cd177 |
A |
T |
7: 24,444,562 (GRCm39) |
F673Y |
probably damaging |
Het |
| Clmn |
G |
T |
12: 104,743,329 (GRCm39) |
S879R |
probably damaging |
Het |
| Csrp3 |
T |
C |
7: 48,489,225 (GRCm39) |
H19R |
possibly damaging |
Het |
| Dmkn |
T |
C |
7: 30,463,971 (GRCm39) |
S137P |
probably damaging |
Het |
| Eno1 |
C |
A |
4: 150,331,067 (GRCm39) |
Y236* |
probably null |
Het |
| Enpp7 |
T |
A |
11: 118,882,953 (GRCm39) |
N342K |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,177,185 (GRCm39) |
|
probably benign |
Het |
| Fshr |
A |
T |
17: 89,293,351 (GRCm39) |
D442E |
probably benign |
Het |
| Gm3898 |
T |
A |
9: 43,741,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac7 |
A |
T |
15: 97,709,336 (GRCm39) |
S43T |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,389,263 (GRCm39) |
C3927R |
probably damaging |
Het |
| Klc4 |
G |
T |
17: 46,946,355 (GRCm39) |
A490D |
probably damaging |
Het |
| Lcn9 |
T |
A |
2: 25,713,663 (GRCm39) |
I63N |
probably damaging |
Het |
| Lgalsl |
G |
A |
11: 20,779,316 (GRCm39) |
Q110* |
probably null |
Het |
| Lrp1b |
A |
T |
2: 40,765,135 (GRCm39) |
M2783K |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,649,948 (GRCm39) |
Y1695F |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,277,753 (GRCm39) |
E817K |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,605,264 (GRCm39) |
D936E |
probably damaging |
Het |
| Necab3 |
T |
C |
2: 154,387,076 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 70,990,400 (GRCm39) |
I951F |
probably damaging |
Het |
| Or5v1 |
T |
A |
17: 37,810,493 (GRCm39) |
I317K |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,576,297 (GRCm39) |
I281T |
possibly damaging |
Het |
| Ppp2r5d |
T |
C |
17: 46,998,901 (GRCm39) |
S54G |
probably benign |
Het |
| Prdx6 |
A |
G |
1: 161,071,255 (GRCm39) |
S146P |
probably damaging |
Het |
| Sec24a |
A |
T |
11: 51,625,448 (GRCm39) |
H258Q |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,550,133 (GRCm39) |
T194A |
possibly damaging |
Het |
| Sqstm1 |
T |
C |
11: 50,098,266 (GRCm39) |
I167V |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,946,522 (GRCm39) |
E361G |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,083,428 (GRCm39) |
Q383L |
possibly damaging |
Het |
| Trappc8 |
G |
C |
18: 20,969,836 (GRCm39) |
Y1051* |
probably null |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,416 (GRCm39) |
M722L |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,247,811 (GRCm39) |
H784R |
probably damaging |
Het |
| Zfp534 |
T |
G |
4: 147,759,173 (GRCm39) |
K499Q |
probably 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 |
|
|
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'- GCCACATCAAGATCACTGACTTTG -3'
(R):5'- TTTGGGTCCTTCTTCAGCAG -3'
Sequencing Primer
(F):5'- CAAGATCACTGACTTTGGCTTG -3'
(R):5'- TCTTCAGCAGTCCAGCCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation