Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Akt2'

168220

Institutional Source

Beutler Lab

Gene Symbol

Akt2

Ensembl Gene

ENSMUSG00000004056

Gene Name

thymoma viral proto-oncogene 2

Synonyms

PKBbeta, PKB, 2410016A19Rik

MMRRC Submission

039562-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27591552-27640826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27637158 bp (GRCm38)

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

noncoding transcript
Transcript: ENSMUST00000143347

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

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: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		probably benign	Het

Other mutations in Akt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Akt2	APN	7	27636154	missense	probably damaging	1.00
IGL01981:Akt2	APN	7	27638074	missense	probably benign	0.04
IGL02340:Akt2	APN	7	27629399	missense	probably damaging	1.00
IGL02794:Akt2	APN	7	27629381	missense	probably benign	0.00
Pedunculated	UTSW	7	27637170	missense	probably benign
perezoso	UTSW	7	27636058	missense	probably damaging	1.00
Sessile	UTSW	7	27633241	missense	probably damaging	1.00
Slothful	UTSW	7	27616349	missense	possibly damaging	0.95
R0013:Akt2	UTSW	7	27636058	missense	probably damaging	1.00
R0129:Akt2	UTSW	7	27636970	missense	probably damaging	1.00
R0355:Akt2	UTSW	7	27636909	splice site	probably benign
R2207:Akt2	UTSW	7	27637200	splice site	probably null
R2921:Akt2	UTSW	7	27628986	missense	probably benign	0.01
R4953:Akt2	UTSW	7	27638172	splice site	probably null
R5495:Akt2	UTSW	7	27636169	critical splice donor site	probably null
R5577:Akt2	UTSW	7	27636306	missense	probably damaging	1.00
R6494:Akt2	UTSW	7	27616349	missense	possibly damaging	0.95
R6987:Akt2	UTSW	7	27633241	missense	probably damaging	1.00
R7034:Akt2	UTSW	7	27637012	critical splice donor site	probably null
R7036:Akt2	UTSW	7	27637012	critical splice donor site	probably null
R7461:Akt2	UTSW	7	27637170	missense	probably benign
R7613:Akt2	UTSW	7	27637170	missense	probably benign
R8744:Akt2	UTSW	7	27618313	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