Mutagenetix > Incidental Mutation

Incidental Mutation 'R6737:Eif2ak2'

530280

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

044855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6737 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79159993-79190002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79171377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 342 (N342S)

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 benign
Transcript: ENSMUST00000024884
AA Change: N342S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000024884
Gene: ENSMUSG00000024079
AA Change: N342S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169940

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,456 (GRCm39)	R114G	probably damaging	Het
Atm	A	T	9: 53,397,351 (GRCm39)	S1661T	probably benign	Het
Castor1	A	G	11: 4,171,685 (GRCm39)	D303G	probably damaging	Het
Cd69	C	T	6: 129,245,262 (GRCm39)	A188T	probably benign	Het
Cecr2	G	T	6: 120,714,084 (GRCm39)	L225F	possibly damaging	Het
Cep295	A	G	9: 15,243,647 (GRCm39)	V1603A	possibly damaging	Het
Clec4g	T	C	8: 3,757,716 (GRCm39)		probably benign	Het
Clptm1	A	T	7: 19,371,001 (GRCm39)		probably null	Het
Crybg2	G	T	4: 133,800,001 (GRCm39)	G387V	probably damaging	Het
Ctcf	T	A	8: 106,391,140 (GRCm39)	M249K	probably benign	Het
Ctnnd2	C	A	15: 30,966,980 (GRCm39)	S952*	probably null	Het
Cxcr2	T	C	1: 74,197,790 (GRCm39)	F95L	probably benign	Het
Ddx55	C	A	5: 124,691,008 (GRCm39)	T5K	probably damaging	Het
Depp1	G	T	6: 116,629,058 (GRCm39)	V134L	possibly damaging	Het
Eif2ak4	TGG	TG	2: 118,292,749 (GRCm39)		probably null	Het
Epb41l2	C	G	10: 25,364,916 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,513 (GRCm39)	K493E	probably damaging	Het
Fndc7	C	A	3: 108,779,594 (GRCm39)	V317L	probably damaging	Het
Fpr-rs6	T	C	17: 20,403,339 (GRCm39)	I7M	probably benign	Het
Gal3st1	T	A	11: 3,948,903 (GRCm39)	I370N	probably benign	Het
Glo1	C	T	17: 30,816,814 (GRCm39)	S114N	probably benign	Het
Grik1	T	C	16: 87,848,279 (GRCm39)	D163G	probably damaging	Het
Grxcr1	T	C	5: 68,267,835 (GRCm39)	C195R	probably damaging	Het
Hdac9	T	C	12: 34,265,451 (GRCm39)	N806S	probably damaging	Het
Igfn1	T	C	1: 135,897,605 (GRCm39)	N987S	probably benign	Het
Klhl29	G	T	12: 5,260,124 (GRCm39)	S31R	possibly damaging	Het
Lama4	C	T	10: 38,970,907 (GRCm39)	R1491C	probably damaging	Het
Lmtk3	T	C	7: 45,443,051 (GRCm39)	L578P	probably damaging	Het
Lrrk2	A	C	15: 91,607,421 (GRCm39)	M595L	possibly damaging	Het
Mmp27	A	T	9: 7,571,955 (GRCm39)	N52Y	possibly damaging	Het
Mrc1	C	T	2: 14,276,088 (GRCm39)	A474V	possibly damaging	Het
Msl1	A	G	11: 98,694,908 (GRCm39)	H134R	probably damaging	Het
Muc5b	T	C	7: 141,411,236 (GRCm39)	M1394T	unknown	Het
Myof	G	A	19: 37,931,962 (GRCm39)	T968I	probably benign	Het
Nat8f2	A	T	6: 85,845,194 (GRCm39)	M56K	probably benign	Het
Ncoa5	C	T	2: 164,844,055 (GRCm39)	G116D	probably damaging	Het
Ndst2	A	G	14: 20,777,562 (GRCm39)	L494P	probably damaging	Het
Nfatc3	T	A	8: 106,810,601 (GRCm39)	V459E	probably damaging	Het
Nup133	A	T	8: 124,633,030 (GRCm39)	Y1034N	probably damaging	Het
Nup153	A	T	13: 46,842,682 (GRCm39)	S829T	probably benign	Het
Or3a1b	A	G	11: 74,012,732 (GRCm39)	S206G	probably benign	Het
Or4f47	T	C	2: 111,972,548 (GRCm39)	F86S	probably damaging	Het
Or52a24	C	T	7: 103,381,357 (GRCm39)	L75F	probably damaging	Het
Or5ac19	A	G	16: 59,089,175 (GRCm39)	L285P	possibly damaging	Het
Pcdh18	C	A	3: 49,710,344 (GRCm39)	V324F	probably damaging	Het
Pcdhb5	T	A	18: 37,455,723 (GRCm39)	L701H	probably damaging	Het
Plau	T	G	14: 20,887,884 (GRCm39)	Y43D	probably damaging	Het
Pld5	T	A	1: 175,917,588 (GRCm39)	N53I	probably damaging	Het
Pon2	T	A	6: 5,266,183 (GRCm39)	I279F	probably benign	Het
Prep	A	T	10: 44,973,591 (GRCm39)	K233I	possibly damaging	Het
Rap1b	T	C	10: 117,658,713 (GRCm39)	Y40C	probably damaging	Het
Ric8a	T	C	7: 140,438,789 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,979,344 (GRCm39)		probably benign	Het
Rpl9-ps6	A	C	19: 32,443,727 (GRCm39)	S75R	probably damaging	Het
Sh3bp2	A	G	5: 34,719,818 (GRCm39)	Y609C	probably damaging	Het
Skint5	T	C	4: 113,392,936 (GRCm39)	N1232S	unknown	Het
Slc28a1	T	G	7: 80,818,996 (GRCm39)	V615G	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx13	T	G	12: 35,190,185 (GRCm39)	N845K	probably damaging	Het
Srms	T	C	2: 180,851,253 (GRCm39)	Y171C	probably damaging	Het
Supt6	A	G	11: 78,122,644 (GRCm39)	L193P	probably damaging	Het
Syt7	G	A	19: 10,421,408 (GRCm39)	V531M	probably damaging	Het
Tmem255b	T	C	8: 13,507,096 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,650,235 (GRCm39)	K449N	possibly damaging	Het
Trim29	A	T	9: 43,230,681 (GRCm39)	D288V	probably benign	Het
Ttc13	T	A	8: 125,408,900 (GRCm39)		probably null	Het
Uchl3	A	T	14: 101,928,033 (GRCm39)	D167V	probably damaging	Het
Ugt3a1	T	C	15: 9,311,895 (GRCm39)	V379A	probably benign	Het
Vps13b	A	G	15: 35,910,757 (GRCm39)	D3507G	probably damaging	Het
Wfdc2	A	T	2: 164,405,362 (GRCm39)	K88*	probably null	Het
Ylpm1	C	A	12: 85,077,620 (GRCm39)	H1448Q	probably damaging	Het
Zc3h14	A	G	12: 98,751,305 (GRCm39)	K667E	probably damaging	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
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
R8003:Eif2ak2	UTSW	17	79,183,652 (GRCm39)	missense	probably damaging	0.99
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'- TCGTGACTAACTGCCAATCAC -3'
(R):5'- CTGGATGCTTGGGAAATTATGAC -3'

Sequencing Primer
(F):5'- TCGTGACTAACTGCCAATCACAAATC -3'
(R):5'- TCTGAGACATGCTTTGGG -3'

Posted On

2018-08-01