Mutagenetix > Incidental Mutation

Incidental Mutation 'R7830:Eif2ak2'

602405

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

045884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7830 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79159993-79190002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79173832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 249 (G249S)

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: G249S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024884
Gene: ENSMUSG00000024079
AA Change: G249S

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: 99.8%
20x: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	C	10: 80,442,654 (GRCm39)	L164P	probably damaging	Het
Aldh16a1	A	T	7: 44,795,649 (GRCm39)	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,539,664 (GRCm39)	N65S	probably damaging	Het
Ankrd54	G	A	15: 78,938,250 (GRCm39)	T287I	probably damaging	Het
Bltp1	CCAGATTCATGTAGCA	CCA	3: 37,019,081 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,753,801 (GRCm39)	V108E	possibly damaging	Het
Cd200l1	A	T	16: 45,262,917 (GRCm39)	I187N	probably damaging	Het
Cntnap5c	A	T	17: 58,469,245 (GRCm39)	D609V	probably damaging	Het
Col6a4	G	T	9: 105,952,589 (GRCm39)	D436E	probably damaging	Het
Cul9	A	T	17: 46,851,237 (GRCm39)	D394E	probably benign	Het
Cyfip1	A	G	7: 55,523,210 (GRCm39)	E75G	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Erich4	A	T	7: 25,315,149 (GRCm39)	M42K	probably benign	Het
Fig4	A	C	10: 41,132,462 (GRCm39)	V448G	probably benign	Het
Gas1	T	C	13: 60,323,848 (GRCm39)	D303G	probably damaging	Het
Golgb1	T	G	16: 36,719,083 (GRCm39)	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,378,357 (GRCm39)	A53V	probably benign	Het
Klk1b27	A	C	7: 43,705,150 (GRCm39)	M106L	probably benign	Het
Lipc	T	C	9: 70,720,183 (GRCm39)	T190A	probably damaging	Het
Lrrc4b	A	G	7: 44,111,231 (GRCm39)	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,284 (GRCm39)	Q368L	probably benign	Het
Myo10	T	A	15: 25,738,057 (GRCm39)	Y501*	probably null	Het
Neb	T	A	2: 52,055,201 (GRCm39)	H6445L	probably benign	Het
Numa1	T	A	7: 101,648,492 (GRCm39)	M741K	probably benign	Het
Nxn	T	A	11: 76,164,819 (GRCm39)	I231F	probably damaging	Het
Or1j13	A	G	2: 36,369,392 (GRCm39)	L250P	probably damaging	Het
Or5b116	T	C	19: 13,422,985 (GRCm39)	L203S	probably benign	Het
Osbp2	A	G	11: 3,813,414 (GRCm39)	S152P	probably benign	Het
P3h4	T	C	11: 100,304,869 (GRCm39)	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,221,733 (GRCm39)	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,469,365 (GRCm39)	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057 (GRCm39)	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,574,481 (GRCm39)	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,310,000 (GRCm39)	T155I	probably benign	Het
Prune2	C	A	19: 17,100,038 (GRCm39)	N1847K	probably benign	Het
Psg21	A	T	7: 18,381,223 (GRCm39)	V440E	probably damaging	Het
Rag1	A	G	2: 101,472,404 (GRCm39)	S913P	probably damaging	Het
Rmc1	A	G	18: 12,301,928 (GRCm39)	N24S	probably benign	Het
Ros1	T	A	10: 52,031,030 (GRCm39)	H525L	probably damaging	Het
Scarb1	T	C	5: 125,364,447 (GRCm39)	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 34,114,030 (GRCm39)	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,123,355 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,566 (GRCm39)	D299G	probably benign	Het
Sox1	G	A	8: 12,446,955 (GRCm39)	A199T	probably damaging	Het
Strc	T	A	2: 121,205,530 (GRCm39)	I867F	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Usf3	C	T	16: 44,040,142 (GRCm39)	Q1541*	probably null	Het
Wrn	G	A	8: 33,759,082 (GRCm39)	L716F	probably damaging	Het
Zfp141	G	A	7: 42,124,612 (GRCm39)	T620I	probably benign	Het
Zfp354b	A	T	11: 50,814,136 (GRCm39)	I263K	probably benign	Het
Zfp804b	T	A	5: 6,821,124 (GRCm39)	E646D	probably benign	Het
Zfp970	G	T	2: 177,167,338 (GRCm39)	C304F	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
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
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'- AACAGCTTGAGGTTTCAGCAC -3'
(R):5'- ATCATGTACAGCCAGAGGGG -3'

Sequencing Primer
(F):5'- GGATAAGTCAAACTCTTGTAGTCAGG -3'
(R):5'- CCAGAGGGGGTGATCTGTTATAC -3'

Posted On

2019-12-03