Mutagenetix > Incidental Mutation

Incidental Mutation 'R1702:Eif2ak2'

189847

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

039735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79159993-79190002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79164063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 434 (I434N)

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: I434N

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

SMART Domains

Protein: ENSMUSP00000024884
Gene: ENSMUSG00000024079
AA Change: I434N

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: ENSMUST00000167498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169940

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,981,925 (GRCm39)	V1080A	probably benign	Het
Abcg4	A	C	9: 44,186,370 (GRCm39)	V553G	probably damaging	Het
Ache	T	C	5: 137,289,251 (GRCm39)	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,172,787 (GRCm39)	M134K	possibly damaging	Het
Ank2	A	T	3: 126,749,548 (GRCm39)	S494T	probably benign	Het
Asic3	A	T	5: 24,620,454 (GRCm39)	T202S	probably damaging	Het
Baiap3	T	A	17: 25,463,779 (GRCm39)	H886L	probably damaging	Het
Bltp2	T	A	11: 78,179,854 (GRCm39)	C2126S	probably damaging	Het
Cidea	T	A	18: 67,499,491 (GRCm39)	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,751,903 (GRCm39)	K366T	probably benign	Het
Cntrl	A	T	2: 35,061,848 (GRCm39)		probably null	Het
Crhr2	A	G	6: 55,069,520 (GRCm39)	F378S	probably damaging	Het
Deaf1	C	G	7: 140,894,867 (GRCm39)	R303T	probably damaging	Het
Dnah9	T	A	11: 65,976,021 (GRCm39)	N1343Y	possibly damaging	Het
Dop1b	A	G	16: 93,544,509 (GRCm39)	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,216,773 (GRCm39)		probably null	Het
Dst	T	C	1: 34,206,421 (GRCm39)	V598A	probably damaging	Het
Ece2	C	T	16: 20,449,996 (GRCm39)	R136C	probably damaging	Het
Efcab3	C	T	11: 104,581,832 (GRCm39)	P58L	probably benign	Het
Egf	C	A	3: 129,484,460 (GRCm39)	V453L	probably benign	Het
Egr3	T	A	14: 70,317,216 (GRCm39)	F342L	probably damaging	Het
Emc1	A	G	4: 139,102,512 (GRCm39)	T936A	probably damaging	Het
Fmod	A	T	1: 133,968,500 (GRCm39)	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,634,848 (GRCm39)	T112A	probably damaging	Het
Gak	T	C	5: 108,754,242 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,603,089 (GRCm39)		probably null	Het
Gm2381	T	A	7: 42,469,655 (GRCm39)	Q156H	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Homez	T	A	14: 55,094,452 (GRCm39)	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,056,617 (GRCm39)	Y184*	probably null	Het
Il11	A	G	7: 4,776,733 (GRCm39)	S86P	probably damaging	Het
Itgal	A	G	7: 126,904,197 (GRCm39)	N270S	probably benign	Het
Lama2	T	C	10: 27,066,525 (GRCm39)	R1119G	probably benign	Het
Lamp3	G	T	16: 19,494,822 (GRCm39)	N294K	probably benign	Het
Mars1	T	C	10: 127,145,948 (GRCm39)	I113M	possibly damaging	Het
Mgat5b	A	G	11: 116,839,485 (GRCm39)	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,518 (GRCm39)	I65T	probably benign	Het
Mmrn2	A	T	14: 34,119,871 (GRCm39)	N247I	probably benign	Het
Muc6	G	T	7: 141,236,752 (GRCm39)	N322K	probably damaging	Het
Mx2	A	G	16: 97,359,883 (GRCm39)	H551R	probably benign	Het
Mylk	T	A	16: 34,742,314 (GRCm39)	V942E	probably benign	Het
Nes	A	G	3: 87,883,286 (GRCm39)	E515G	probably benign	Het
Nfatc3	T	G	8: 106,818,792 (GRCm39)	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339 (GRCm39)		probably null	Het
Noxa1	A	G	2: 24,982,596 (GRCm39)	V73A	probably damaging	Het
Nup160	A	T	2: 90,514,302 (GRCm39)	E83D	probably damaging	Het
Or12j3	A	T	7: 139,952,655 (GRCm39)	Y289*	probably null	Het
Or4z4	C	A	19: 12,076,530 (GRCm39)	V158L	probably benign	Het
Or5ac23	C	A	16: 59,149,504 (GRCm39)	V123L	probably benign	Het
Or8b56	A	G	9: 38,739,839 (GRCm39)	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,046,187 (GRCm39)		probably null	Het
Rundc3b	A	G	5: 8,562,318 (GRCm39)	V350A	probably benign	Het
Scn1a	C	T	2: 66,148,567 (GRCm39)	D993N	probably damaging	Het
Sec24c	G	T	14: 20,736,641 (GRCm39)	G226V	probably null	Het
Septin11	T	A	5: 93,304,783 (GRCm39)	I200N	probably damaging	Het
Shank3	G	T	15: 89,384,099 (GRCm39)	G14C	probably damaging	Het
Skic3	A	G	13: 76,270,862 (GRCm39)	K153R	possibly damaging	Het
Slc25a39	T	C	11: 102,297,452 (GRCm39)	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,412,852 (GRCm39)	T169S	probably benign	Het
Taf1b	T	A	12: 24,559,125 (GRCm39)	I83K	possibly damaging	Het
Tarbp1	T	A	8: 127,154,957 (GRCm39)	Q1389L	probably damaging	Het
Thbs1	T	A	2: 117,943,923 (GRCm39)	D180E	probably benign	Het
Tmc5	T	A	7: 118,271,462 (GRCm39)	V925D	probably benign	Het
Tmem62	T	C	2: 120,809,708 (GRCm39)	V130A	probably damaging	Het
Tpp2	C	T	1: 44,029,708 (GRCm39)	P997L	probably damaging	Het
Trip12	A	T	1: 84,722,784 (GRCm39)	I127N	probably damaging	Het
Upp2	T	C	2: 58,661,562 (GRCm39)	F142L	possibly damaging	Het
Usf3	C	T	16: 44,039,995 (GRCm39)	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840 (GRCm39)	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,652,394 (GRCm39)	V186I	possibly damaging	Het
Washc2	T	C	6: 116,206,267 (GRCm39)	S496P	probably damaging	Het
Wee2	T	C	6: 40,441,135 (GRCm39)	I480T	probably benign	Het
Xylt2	T	A	11: 94,559,571 (GRCm39)	H357L	probably damaging	Het
Zbed4	T	C	15: 88,665,056 (GRCm39)	S375P	probably damaging	Het
Zfp442	A	T	2: 150,251,100 (GRCm39)	Y266*	probably null	Het
Zfp600	A	G	4: 146,133,497 (GRCm39)	T722A	probably benign	Het
Zfp976	T	A	7: 42,265,424 (GRCm39)	H55L	possibly 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
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
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

Posted On

2014-05-14