Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Akt2'

32636

Institutional Source

Beutler Lab

Gene Symbol

Akt2

Ensembl Gene

ENSMUSG00000004056

Gene Name

thymoma viral proto-oncogene 2

Synonyms

PKB, 2410016A19Rik, PKBbeta

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R0013 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

27290977-27340251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27335483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 284 (D284G)

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: D284G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052103
Gene: ENSMUSG00000004056
AA Change: D284G

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 damaging
Transcript: ENSMUST00000108343
AA Change: D284G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103980
Gene: ENSMUSG00000004056
AA Change: D284G

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: D284G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103981
Gene: ENSMUSG00000004056
AA Change: D284G

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: D284G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132141
Gene: ENSMUSG00000004056
AA Change: D284G

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

Meta Mutation Damage Score

0.9480

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,293,346 (GRCm39)	M156V	probably benign	Het
Adnp2	A	T	18: 80,172,960 (GRCm39)	V483D	probably damaging	Het
Aff1	G	T	5: 103,976,350 (GRCm39)	E491*	probably null	Het
Agl	A	T	3: 116,570,257 (GRCm39)	C911*	probably null	Het
Alox15	A	G	11: 70,240,461 (GRCm39)	M240T	possibly damaging	Het
Antxr2	A	G	5: 98,127,844 (GRCm39)	V229A	probably damaging	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Btaf1	A	G	19: 36,935,773 (GRCm39)	T188A	probably benign	Het
Btnl6	G	A	17: 34,734,505 (GRCm39)	Q86*	probably null	Het
C2cd3	T	A	7: 100,065,269 (GRCm39)	L685H	probably damaging	Het
Cdh23	T	C	10: 60,248,952 (GRCm39)	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,179,108 (GRCm39)	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,405,043 (GRCm39)	T2500S	possibly damaging	Het
Def6	A	G	17: 28,436,066 (GRCm39)	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,884,461 (GRCm39)	F448L	probably damaging	Het
Dner	C	T	1: 84,472,614 (GRCm39)		probably benign	Het
Dnmbp	G	A	19: 43,890,670 (GRCm39)	P366S	probably benign	Het
Eif4g3	T	C	4: 137,903,159 (GRCm39)	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,820,185 (GRCm39)		probably benign	Het
Faah	C	A	4: 115,861,588 (GRCm39)	L305F	probably damaging	Het
Flt1	A	G	5: 147,507,824 (GRCm39)		probably benign	Het
Fyco1	A	T	9: 123,651,471 (GRCm39)	N1196K	probably benign	Het
Galnt18	T	C	7: 111,153,664 (GRCm39)	N320S	probably damaging	Het
Garin3	A	G	11: 46,297,631 (GRCm39)	T312A	unknown	Het
Glp2r	C	A	11: 67,600,538 (GRCm39)	G437V	possibly damaging	Het
Gm4884	T	C	7: 40,693,716 (GRCm39)	S562P	probably damaging	Het
Gm9936	A	G	5: 114,995,408 (GRCm39)		probably benign	Het
Gpn2	C	A	4: 133,312,103 (GRCm39)	P112T	probably damaging	Het
Grm4	A	G	17: 27,650,549 (GRCm39)	Y816H	probably benign	Het
Helz2	A	T	2: 180,882,752 (GRCm39)	S14T	probably benign	Het
Htt	T	C	5: 34,977,448 (GRCm39)	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060 (GRCm39)	S129P	probably damaging	Het
Ints11	T	C	4: 155,971,625 (GRCm39)	F315S	probably damaging	Het
Itga11	A	T	9: 62,683,895 (GRCm39)	N1059Y	possibly damaging	Het
Jak3	A	G	8: 72,136,971 (GRCm39)	S716G	probably damaging	Het
Kcns1	G	T	2: 164,010,563 (GRCm39)	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715 (GRCm39)	K1305N	probably benign	Het
Kif26a	G	T	12: 112,144,314 (GRCm39)	V1523L	probably benign	Het
Mboat7	A	G	7: 3,686,821 (GRCm39)	S340P	probably damaging	Het
Mctp2	T	C	7: 71,879,156 (GRCm39)	I234V	probably benign	Het
Mex3c	G	A	18: 73,723,622 (GRCm39)	A572T	probably benign	Het
Mpp3	C	A	11: 101,896,251 (GRCm39)	R424L	probably benign	Het
Mroh4	T	A	15: 74,480,086 (GRCm39)		probably benign	Het
Myo9a	A	T	9: 59,767,489 (GRCm39)		probably benign	Het
Myog	T	A	1: 134,217,973 (GRCm39)	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,270,650 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,363,830 (GRCm39)	V868A	possibly damaging	Het
Or10g9b	A	T	9: 39,917,651 (GRCm39)	I198N	probably damaging	Het
Or1j20	A	G	2: 36,760,172 (GRCm39)	N198S	probably damaging	Het
Or1p1	T	A	11: 74,179,877 (GRCm39)	I135N	possibly damaging	Het
Or5d18	T	C	2: 87,864,610 (GRCm39)	Y291C	possibly damaging	Het
Pink1	T	C	4: 138,044,712 (GRCm39)	T342A	probably benign	Het
Plb1	T	A	5: 32,506,959 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,062,446 (GRCm39)	D2524G	probably damaging	Het
Plekhg4	G	T	8: 106,102,028 (GRCm39)	E6*	probably null	Het
Polq	T	C	16: 36,882,201 (GRCm39)	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,139,884 (GRCm39)		probably benign	Het
Prkaca	G	A	8: 84,714,932 (GRCm39)	M119I	possibly damaging	Het
Prss46	G	T	9: 110,679,123 (GRCm39)	S108I	probably damaging	Het
Ptma	C	T	1: 86,457,498 (GRCm39)		probably benign	Het
Rab11fip4	C	T	11: 79,580,479 (GRCm39)	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409 (GRCm39)	M437K	probably benign	Het
Rrn3	T	A	16: 13,630,977 (GRCm39)	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,239,231 (GRCm39)		probably benign	Het
Sis	A	G	3: 72,817,809 (GRCm39)	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,598,745 (GRCm39)	M1450V	probably benign	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sntg1	T	C	1: 8,533,686 (GRCm39)	T323A	probably damaging	Het
Son	C	T	16: 91,448,550 (GRCm39)	T37I	probably damaging	Het
Stk17b	T	C	1: 53,803,291 (GRCm39)	I41M	probably benign	Het
Tgm5	T	A	2: 120,907,363 (GRCm39)	Y120F	probably damaging	Het
Tppp	A	G	13: 74,169,479 (GRCm39)	K73R	possibly damaging	Het
Ttn	C	A	2: 76,569,502 (GRCm39)	K27130N	probably damaging	Het
Ttn	C	T	2: 76,738,096 (GRCm39)	V4148I	probably benign	Het
Tut4	T	A	4: 108,388,152 (GRCm39)		probably benign	Het
Uba7	A	T	9: 107,855,448 (GRCm39)	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931 (GRCm39)	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,453,872 (GRCm39)		probably benign	Het
Zfp839	T	A	12: 110,834,820 (GRCm39)	S692T	possibly 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
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
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'- CCCAGAAATCCCTGATGTGACAGC -3'
(R):5'- GCGGATCTCCTCCATAAGAATGAGC -3'

Sequencing Primer
(F):5'- tcttcctaatgctgtgaccc -3'
(R):5'- AGCTCAAAGAGGCGCTC -3'

Posted On

2013-05-09