Mutagenetix > Incidental Mutation

Incidental Mutation 'R6494:Akt2'

522958

Institutional Source

Beutler Lab

Gene Symbol

Akt2

Ensembl Gene

ENSMUSG00000004056

Gene Name

thymoma viral proto-oncogene 2

Synonyms

PKB, 2410016A19Rik, PKBbeta

MMRRC Submission

044626-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R6494 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27290977-27340251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27315774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 52 (L52P)

Ref Sequence

ENSEMBL: ENSMUSP00000117682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051356] [ENSMUST00000085917] [ENSMUST00000108342] [ENSMUST00000108343] [ENSMUST00000108344] [ENSMUST00000128540] [ENSMUST00000136962] [ENSMUST00000138459] [ENSMUST00000142365] [ENSMUST00000167435] [ENSMUST00000143499]

AlphaFold

Q60823

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051356
AA Change: L52P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
AA Change: L52P

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: L52P

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083081
Gene: ENSMUSG00000004056
AA Change: L52P

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

possibly damaging
Transcript: ENSMUST00000108342
AA Change: L52P

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103979
Gene: ENSMUSG00000004056
AA Change: L52P

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: L52P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
AA Change: L52P

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: L52P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
AA Change: L52P

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: ENSMUST00000128540
AA Change: L52P

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122716
Gene: ENSMUSG00000004056
AA Change: L52P

Domain	Start	End	E-Value	Type
PH	6	91	1.22e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136962
AA Change: L52P

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117682
Gene: ENSMUSG00000004056
AA Change: L52P

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: ENSMUST00000138459
AA Change: L52P

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123204
Gene: ENSMUSG00000004056
AA Change: L52P

Domain	Start	End	E-Value	Type
Pfam:PH	6	67	1.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142365
AA Change: L52P

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120978
Gene: ENSMUSG00000004056
AA Change: L52P

Domain	Start	End	E-Value	Type
Pfam:PH	6	84	9.5e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167435
AA Change: L52P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
AA Change: L52P

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: ENSMUST00000147263

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

98% (44/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chic2	T	C	5: 75,204,943 (GRCm39)	E6G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Col5a2	C	A	1: 45,417,487 (GRCm39)	D1363Y	probably damaging	Het
Csmd1	C	T	8: 16,261,709 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,138,591 (GRCm39)	Y211F	probably damaging	Het
Efcab3	A	T	11: 104,990,845 (GRCm39)	Y5460F	possibly damaging	Het
Efcab6	T	A	15: 83,928,523 (GRCm39)		probably null	Het
Eno4	T	A	19: 58,951,226 (GRCm39)	Y237N	probably damaging	Het
Fer1l4	T	A	2: 155,887,390 (GRCm39)	D602V	probably benign	Het
Fgfr2	T	C	7: 129,800,280 (GRCm39)	N337S	probably damaging	Het
Fras1	C	T	5: 96,907,423 (GRCm39)	R3203C	possibly damaging	Het
Gbp2	T	A	3: 142,337,769 (GRCm39)	V295E	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,765,745 (GRCm39)	I366M	possibly damaging	Het
Itsn2	C	T	12: 4,684,792 (GRCm39)	R448*	probably null	Het
Klhl35	G	T	7: 99,122,106 (GRCm39)	W69L	probably damaging	Het
Kpnb1	T	C	11: 97,072,474 (GRCm39)	I154V	probably benign	Het
Lax1	T	A	1: 133,608,186 (GRCm39)	Y185F	probably damaging	Het
Mmp12	C	T	9: 7,353,479 (GRCm39)	P208L	probably damaging	Het
Ndufb8	C	T	19: 44,543,744 (GRCm39)	V33M	probably null	Het
Nptn	T	G	9: 58,531,035 (GRCm39)	C169G	probably damaging	Het
Nuggc	A	T	14: 65,885,671 (GRCm39)	E766V	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,139,520 (GRCm39)	N149I	possibly damaging	Het
Or12e14	A	T	2: 87,187,976 (GRCm39)	K63*	probably null	Het
Pcdhga6	T	A	18: 37,841,594 (GRCm39)	I438N	probably damaging	Het
Pkn2	T	C	3: 142,509,429 (GRCm39)	N721S	possibly damaging	Het
Pole	T	C	5: 110,472,588 (GRCm39)	W1590R	possibly damaging	Het
Prph2	A	G	17: 47,222,007 (GRCm39)	T129A	probably benign	Het
Ptpro	A	T	6: 137,359,640 (GRCm39)	K403N	probably benign	Het
Rbck1	T	C	2: 152,172,886 (GRCm39)	D54G	possibly damaging	Het
Serpinb7	T	A	1: 107,363,076 (GRCm39)	L80*	probably null	Het
Setdb2	T	A	14: 59,639,863 (GRCm39)	Y676F	probably benign	Het
Skint1	G	T	4: 111,867,909 (GRCm39)	C12F	probably benign	Het
Slc22a26	T	A	19: 7,779,651 (GRCm39)	D55V	probably damaging	Het
Slc9a8	G	A	2: 167,266,211 (GRCm39)	V63I	probably damaging	Het
Sox2	T	A	3: 34,705,246 (GRCm39)	S228T	probably benign	Het
Spata31g1	A	G	4: 42,971,924 (GRCm39)	N419S	possibly damaging	Het
Spg11	A	G	2: 121,943,706 (GRCm39)	S149P	probably damaging	Het
Tbc1d19	T	A	5: 53,986,725 (GRCm39)	S45T	probably benign	Het
Tsacc	T	C	3: 88,202,703 (GRCm39)	E11G	probably benign	Het
Ttc7b	C	T	12: 100,461,666 (GRCm39)	A104T	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Zfp108	T	A	7: 23,960,782 (GRCm39)	F458I	probably damaging	Het
Zfp616	A	T	11: 73,976,018 (GRCm39)	K762N	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
R5577:Akt2	UTSW	7	27,335,731 (GRCm39)	missense	probably damaging	1.00
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'- TTGTGAGTCACTGTCACCCTG -3'
(R):5'- GAGATGCACCCTGACTTCTC -3'

Sequencing Primer
(F):5'- TCACTGTCACCCTGGGCTG -3'
(R):5'- TGACTTCTCACTATCCCCAGAAAGG -3'

Posted On

2018-06-06