Mutagenetix > Incidental Mutation

Incidental Mutation 'R8003:Eif2ak2'

616480

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak2

Ensembl Gene

ENSMUSG00000024079

Gene Name

eukaryotic translation initiation factor 2-alpha kinase 2

Synonyms

Pkr, 2310047A08Rik, IFN-induced and double-stranded RNA-activated kinase, 4732414G15Rik, dsRNA-activated kinase, eIF-2 alpha, Prkr, Tik, eIF-2 alpha, IFN- type I-induced and dsRNA-activated kinase

MMRRC Submission

046043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8003 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79159993-79190002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79183652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 66 (A66S)

Ref Sequence

ENSEMBL: ENSMUSP00000024884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024884]

AlphaFold

Q03963

PDB Structure

Solution structure of the second DSRM domain in Interferon-induced, double-stranded RNA-activated protein kinase [SOLUTION NMR]
Solution structure of the first DSRM domain in Interferon-induced, double-stranded RNA-activated protein kinase [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024884
AA Change: A66S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024884
Gene: ENSMUSG00000024079
AA Change: A66S

Domain	Start	End	E-Value	Type
DSRM	9	75	2.34e-20	SMART
DSRM	96	161	7.66e-16	SMART
low complexity region	169	196	N/A	INTRINSIC
Pfam:Pkinase	242	500	4.6e-56	PFAM
Pfam:Pkinase_Tyr	242	500	8e-37	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display altered susceptibility to viral infection. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(2) Gene trapped(5)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	G	14: 56,019,092 (GRCm39)	V155A	probably benign	Het
Arfgef2	A	G	2: 166,695,208 (GRCm39)	Y527C	probably damaging	Het
Brca1	C	T	11: 101,415,303 (GRCm39)	G944R	probably benign	Het
C2cd2	A	G	16: 97,687,286 (GRCm39)		probably null	Het
Cass4	T	C	2: 172,269,879 (GRCm39)	F654L	unknown	Het
Ccdc178	A	T	18: 21,977,944 (GRCm39)		probably null	Het
Cct4	T	C	11: 22,946,040 (GRCm39)		probably null	Het
Cish	T	C	9: 107,174,227 (GRCm39)	V5A	possibly damaging	Het
Col5a1	G	A	2: 27,848,340 (GRCm39)		probably benign	Het
Col6a3	G	T	1: 90,703,455 (GRCm39)	N3037K	unknown	Het
Csmd2	T	A	4: 128,432,980 (GRCm39)	C3012*	probably null	Het
Dclk2	T	C	3: 86,700,608 (GRCm39)		probably null	Het
Dhx38	A	T	8: 110,282,772 (GRCm39)	D631E	probably damaging	Het
Ephx2	A	G	14: 66,361,782 (GRCm39)		probably null	Het
Fbxw10	T	G	11: 62,748,587 (GRCm39)	C405G	possibly damaging	Het
Galnt13	G	T	2: 54,950,497 (GRCm39)	G393*	probably null	Het
Gm5591	G	T	7: 38,219,183 (GRCm39)	H563Q	probably damaging	Het
Gtf3c5	A	G	2: 28,459,373 (GRCm39)	I394T	probably benign	Het
Hectd4	G	A	5: 121,477,581 (GRCm39)	A2835T	possibly damaging	Het
Herc2	A	G	7: 55,818,652 (GRCm39)	D2781G	possibly damaging	Het
Kmt2b	G	T	7: 30,268,802 (GRCm39)	H2642Q	probably damaging	Het
Lars1	A	T	18: 42,354,684 (GRCm39)	D754E	probably damaging	Het
Lrpprc	A	C	17: 85,059,745 (GRCm39)	S690A	probably benign	Het
Map3k6	A	G	4: 132,976,193 (GRCm39)	T805A	probably benign	Het
Mthfd1l	T	G	10: 3,934,147 (GRCm39)	S160A	probably benign	Het
Mtmr6	G	A	14: 60,519,544 (GRCm39)		probably null	Het
Mybpc2	A	T	7: 44,158,488 (GRCm39)	M698K	probably damaging	Het
Myh8	T	A	11: 67,190,586 (GRCm39)	L1304M	probably damaging	Het
Mylip	T	A	13: 45,557,947 (GRCm39)	V117E	probably benign	Het
Npc1l1	T	C	11: 6,165,129 (GRCm39)	Q1061R	probably benign	Het
Or12e13	A	G	2: 87,664,081 (GRCm39)	R233G	probably benign	Het
Or5d37	A	T	2: 87,923,589 (GRCm39)	Y230*	probably null	Het
Pkd2l2	G	A	18: 34,561,232 (GRCm39)	M413I	probably damaging	Het
Plch2	C	T	4: 155,138,980 (GRCm39)	G19D	unknown	Het
Pramel17	T	C	4: 101,693,130 (GRCm39)	K290R	probably benign	Het
Psg22	A	C	7: 18,458,350 (GRCm39)	Y347S	probably damaging	Het
Ptpre	C	A	7: 135,270,765 (GRCm39)	Q314K	probably damaging	Het
Rgs6	T	C	12: 83,032,144 (GRCm39)	S54P	probably damaging	Het
Sbds	C	A	5: 130,279,726 (GRCm39)	V130F	possibly damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc24a2	A	T	4: 87,094,552 (GRCm39)	D322E	probably benign	Het
Slc45a4	G	T	15: 73,457,162 (GRCm39)	Y585*	probably null	Het
Slc7a4	A	C	16: 17,392,315 (GRCm39)	V373G	possibly damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Syt1	T	C	10: 108,472,434 (GRCm39)	D150G	probably damaging	Het
Tnpo3	C	A	6: 29,551,900 (GRCm39)	V888F	probably benign	Het
Trim9	T	C	12: 70,393,608 (GRCm39)	H112R	probably benign	Het
Vmn2r80	T	C	10: 78,984,711 (GRCm39)	I21T	probably benign	Het
Wdr41	C	A	13: 95,149,654 (GRCm39)	A286E	possibly damaging	Het
Wnt8b	T	A	19: 44,500,396 (GRCm39)	C328S	probably damaging	Het
Ybx3	A	T	6: 131,345,400 (GRCm39)	Y324*	probably null	Het
Zmynd15	T	A	11: 70,351,767 (GRCm39)	H124Q	probably benign	Het

Other mutations in Eif2ak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Eif2ak2	APN	17	79,176,912 (GRCm39)	missense	probably benign	0.00
IGL01017:Eif2ak2	APN	17	79,171,287 (GRCm39)	missense	probably damaging	1.00
IGL01068:Eif2ak2	APN	17	79,172,800 (GRCm39)	missense	probably damaging	1.00
3-1:Eif2ak2	UTSW	17	79,176,927 (GRCm39)	missense	probably benign	0.00
R0038:Eif2ak2	UTSW	17	79,171,384 (GRCm39)	missense	probably benign
R0801:Eif2ak2	UTSW	17	79,173,778 (GRCm39)	nonsense	probably null
R1702:Eif2ak2	UTSW	17	79,164,063 (GRCm39)	missense	probably damaging	1.00
R2020:Eif2ak2	UTSW	17	79,171,392 (GRCm39)	missense	possibly damaging	0.87
R2159:Eif2ak2	UTSW	17	79,181,447 (GRCm39)	missense	possibly damaging	0.77
R3405:Eif2ak2	UTSW	17	79,166,068 (GRCm39)	splice site	probably benign
R3406:Eif2ak2	UTSW	17	79,166,068 (GRCm39)	splice site	probably benign
R4355:Eif2ak2	UTSW	17	79,165,963 (GRCm39)	missense	probably benign	0.08
R5135:Eif2ak2	UTSW	17	79,173,774 (GRCm39)	missense	probably damaging	0.96
R5145:Eif2ak2	UTSW	17	79,183,633 (GRCm39)	missense	possibly damaging	0.60
R5336:Eif2ak2	UTSW	17	79,181,472 (GRCm39)	missense	probably benign	0.00
R6195:Eif2ak2	UTSW	17	79,178,662 (GRCm39)	nonsense	probably null
R6233:Eif2ak2	UTSW	17	79,178,662 (GRCm39)	nonsense	probably null
R6417:Eif2ak2	UTSW	17	79,164,048 (GRCm39)	missense	probably damaging	1.00
R6737:Eif2ak2	UTSW	17	79,171,377 (GRCm39)	missense	probably benign	0.00
R7108:Eif2ak2	UTSW	17	79,165,965 (GRCm39)	nonsense	probably null
R7238:Eif2ak2	UTSW	17	79,173,760 (GRCm39)	missense	probably benign	0.01
R7830:Eif2ak2	UTSW	17	79,173,832 (GRCm39)	missense	probably damaging	1.00
R7843:Eif2ak2	UTSW	17	79,176,203 (GRCm39)	missense	probably benign	0.24
R7845:Eif2ak2	UTSW	17	79,171,327 (GRCm39)	missense	probably damaging	1.00
R8143:Eif2ak2	UTSW	17	79,165,961 (GRCm39)	missense	probably benign	0.09
R9658:Eif2ak2	UTSW	17	79,183,632 (GRCm39)	missense	probably benign	0.00
R9719:Eif2ak2	UTSW	17	79,162,783 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTCAACAAGTCTCCTGGTG -3'
(R):5'- TTAAAGTCTGTCAGTGAGCCC -3'

Sequencing Primer
(F):5'- CCTGGTGTATTTCTCACTCAGAAG -3'
(R):5'- AGTGAGCCCGGGTTCGAATC -3'

Posted On

2020-01-23