Incidental Mutation 'R5495:Akt2'
| ID |
501124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akt2
|
| Ensembl Gene |
ENSMUSG00000004056 |
| Gene Name |
thymoma viral proto-oncogene 2 |
| Synonyms |
PKB, 2410016A19Rik, PKBbeta |
| MMRRC Submission |
043056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.889)
|
| Stock # |
R5495 (G1)
|
| Quality Score |
210 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27290977-27340251 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 27335594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000051356
|
| SMART Domains |
Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
| 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
|
| SMART Domains |
Protein: ENSMUSP00000083081
Gene: ENSMUSG00000004056
| 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 null
Transcript: ENSMUST00000108343
|
| SMART Domains |
Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
| 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 null
Transcript: ENSMUST00000108344
|
| SMART Domains |
Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
| 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 null
Transcript: ENSMUST00000167435
|
| SMART Domains |
Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
| 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: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap29 |
T |
G |
3: 121,808,578 (GRCm39) |
M844R |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,498,741 (GRCm39) |
D184A |
probably benign |
Het |
| Bcl11a |
T |
A |
11: 24,115,042 (GRCm39) |
V795E |
possibly damaging |
Het |
| Casp12 |
T |
A |
9: 5,353,797 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ccdc59 |
A |
G |
10: 105,681,239 (GRCm39) |
K164E |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,062,431 (GRCm39) |
G30S |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,854,594 (GRCm39) |
D632G |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,687,258 (GRCm39) |
K56E |
possibly damaging |
Het |
| Egflam |
T |
A |
15: 7,280,722 (GRCm39) |
R434S |
probably damaging |
Het |
| Fancl |
C |
G |
11: 26,347,801 (GRCm39) |
A51G |
probably damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,493,638 (GRCm39) |
Y185C |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,197,673 (GRCm39) |
|
probably null |
Het |
| Galnt15 |
A |
G |
14: 31,751,774 (GRCm39) |
S109G |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,615,694 (GRCm39) |
I163T |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,391,230 (GRCm39) |
V80A |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,554,687 (GRCm39) |
M56T |
possibly damaging |
Het |
| Larp1b |
G |
T |
3: 40,990,257 (GRCm39) |
R135I |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,495 (GRCm39) |
A71T |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,551,851 (GRCm39) |
L78* |
probably null |
Het |
| Lrat |
C |
A |
3: 82,804,289 (GRCm39) |
M229I |
probably benign |
Het |
| Mug2 |
A |
T |
6: 122,056,609 (GRCm39) |
M1185L |
probably damaging |
Het |
| Naprt |
T |
C |
15: 75,765,696 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,095,079 (GRCm39) |
I1107V |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,387 (GRCm39) |
Y22C |
probably damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,906 (GRCm39) |
Q526K |
probably benign |
Het |
| Or2d4 |
C |
A |
7: 106,543,699 (GRCm39) |
G170* |
probably null |
Het |
| Or3a10 |
G |
A |
11: 73,935,611 (GRCm39) |
T163I |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,276,401 (GRCm39) |
T294A |
probably benign |
Het |
| Or8g36 |
T |
C |
9: 39,422,441 (GRCm39) |
T192A |
probably benign |
Het |
| Parp10 |
T |
G |
15: 76,127,366 (GRCm39) |
I24L |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,079 (GRCm39) |
T57A |
probably benign |
Het |
| Prdm8 |
A |
G |
5: 98,333,165 (GRCm39) |
E244G |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,496,654 (GRCm39) |
S3P |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,235,117 (GRCm39) |
T18S |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,941,004 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
G |
T |
14: 75,279,777 (GRCm39) |
V387F |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,997,602 (GRCm39) |
L38M |
possibly damaging |
Het |
| Serpinb12 |
T |
C |
1: 106,884,151 (GRCm39) |
L299P |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
T |
10: 23,837,181 (GRCm39) |
I264F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,523,570 (GRCm39) |
H124Q |
probably damaging |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,746 (GRCm39) |
Q184L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,774,462 (GRCm39) |
F168L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,468,670 (GRCm39) |
L267P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,772,354 (GRCm39) |
S1621G |
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 |
|
|
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'- GGTCTGTCCCTCATATATTGGC -3'
(R):5'- GAATGAGCTCAAAGAGGCGCTC -3'
Sequencing Primer
(F):5'- GTCCCTCATATATTGGCTTTTGTTG -3'
(R):5'- TCAAAGAGGCGCTCGTGGTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation