Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Eif2ak3'

21605

Institutional Source

Beutler Lab

Gene Symbol

Eif2ak3

Ensembl Gene

ENSMUSG00000031668

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 3

Synonyms

PERK

MMRRC Submission

038415-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R0130 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

70821499-70882229 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 70858716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034093]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034093

SMART Domains

Protein: ENSMUSP00000034093
Gene: ENSMUSG00000031668

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	48	82	N/A	INTRINSIC
low complexity region	125	139	N/A	INTRINSIC
low complexity region	221	230	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC
Pfam:Pkinase_Tyr	589	662	1.6e-6	PFAM
Pfam:Pkinase	589	673	3.2e-12	PFAM
Pfam:Pkinase	839	1075	1.9e-38	PFAM
Pfam:Pkinase_Tyr	859	1073	5.8e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199580

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in a similar gene in human are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant mice develop exocrine pancreatic insufficiency and progressive diabetes mellitus. They are growth retarded, hyperglycemic, exhibit increased cell death in the pancreas, have decreased numbers of pancreatic beta cells and about half diebefore weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,994,094 (GRCm39)	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Apol7c	A	G	15: 77,410,562 (GRCm39)	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Arfip2	A	G	7: 105,288,205 (GRCm39)		probably benign	Het
Atp5mf	A	T	5: 145,124,992 (GRCm39)		probably benign	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,569,389 (GRCm39)	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,119,990 (GRCm39)	T613A	probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Cenpc1	A	T	5: 86,194,405 (GRCm39)	D120E	probably benign	Het
Chd3	T	A	11: 69,250,656 (GRCm39)	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,922,059 (GRCm39)	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,585,108 (GRCm39)	T837K	probably benign	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Fat2	T	A	11: 55,142,944 (GRCm39)	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Gde1	A	T	7: 118,294,283 (GRCm39)	F63L	probably benign	Het
Gjc3	A	G	5: 137,956,202 (GRCm39)	S28P	probably benign	Het
Gm10250	G	A	15: 5,150,473 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k11	T	C	19: 5,740,843 (GRCm39)	L190P	probably damaging	Het
Mki67	T	A	7: 135,298,188 (GRCm39)	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,285,990 (GRCm39)	I272F	probably damaging	Het
Myom1	A	T	17: 71,352,750 (GRCm39)	D358V	probably damaging	Het
Nebl	T	C	2: 17,395,737 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Nlrp2	T	A	7: 5,325,417 (GRCm39)	N14Y	possibly damaging	Het
Or14a258	T	C	7: 86,035,514 (GRCm39)	Y118C	probably damaging	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pld2	T	G	11: 70,445,174 (GRCm39)	N591K	probably benign	Het
Plekha7	A	G	7: 115,769,939 (GRCm39)	M276T	probably damaging	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Prtg	A	G	9: 72,716,998 (GRCm39)	Y113C	probably damaging	Het
Rab38	T	A	7: 88,099,749 (GRCm39)	I88N	probably damaging	Het
Rbfox2	A	G	15: 76,976,057 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,047,233 (GRCm39)	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,070,620 (GRCm39)	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Tectb	G	T	19: 55,170,393 (GRCm39)	K81N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Tiam1	T	C	16: 89,694,642 (GRCm39)	M272V	probably benign	Het
Trav13-3	T	A	14: 53,967,233 (GRCm39)		noncoding transcript	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	Het

Other mutations in Eif2ak3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Eif2ak3	APN	6	70,869,710 (GRCm39)	missense	probably damaging	1.00
IGL02069:Eif2ak3	APN	6	70,873,949 (GRCm39)	missense	probably damaging	1.00
IGL02197:Eif2ak3	APN	6	70,878,441 (GRCm39)	missense	probably benign	0.37
IGL03150:Eif2ak3	APN	6	70,869,420 (GRCm39)	missense	possibly damaging	0.68
R0024:Eif2ak3	UTSW	6	70,869,340 (GRCm39)	missense	probably benign	0.01
R0394:Eif2ak3	UTSW	6	70,862,202 (GRCm39)	missense	probably benign	0.03
R0699:Eif2ak3	UTSW	6	70,869,514 (GRCm39)	missense	probably benign	0.16
R1648:Eif2ak3	UTSW	6	70,860,615 (GRCm39)	missense	possibly damaging	0.52
R1708:Eif2ak3	UTSW	6	70,864,790 (GRCm39)	missense	probably damaging	0.99
R1953:Eif2ak3	UTSW	6	70,869,538 (GRCm39)	missense	probably benign	0.03
R2062:Eif2ak3	UTSW	6	70,881,181 (GRCm39)	missense	probably benign	0.02
R2875:Eif2ak3	UTSW	6	70,860,623 (GRCm39)	missense	probably damaging	1.00
R4260:Eif2ak3	UTSW	6	70,866,497 (GRCm39)	missense	probably damaging	0.98
R4357:Eif2ak3	UTSW	6	70,861,859 (GRCm39)	missense	probably damaging	0.98
R4786:Eif2ak3	UTSW	6	70,869,602 (GRCm39)	missense	possibly damaging	0.95
R4801:Eif2ak3	UTSW	6	70,864,877 (GRCm39)	missense	probably benign	0.01
R4802:Eif2ak3	UTSW	6	70,864,877 (GRCm39)	missense	probably benign	0.01
R5194:Eif2ak3	UTSW	6	70,835,462 (GRCm39)	missense	possibly damaging	0.83
R5260:Eif2ak3	UTSW	6	70,870,113 (GRCm39)	missense	probably damaging	1.00
R5710:Eif2ak3	UTSW	6	70,860,717 (GRCm39)	missense	probably damaging	1.00
R5724:Eif2ak3	UTSW	6	70,853,824 (GRCm39)	missense	probably benign	0.19
R6089:Eif2ak3	UTSW	6	70,873,918 (GRCm39)	missense	possibly damaging	0.87
R6656:Eif2ak3	UTSW	6	70,860,699 (GRCm39)	missense	probably damaging	1.00
R6940:Eif2ak3	UTSW	6	70,869,386 (GRCm39)	missense	possibly damaging	0.82
R6949:Eif2ak3	UTSW	6	70,855,829 (GRCm39)	missense	probably damaging	0.99
R6958:Eif2ak3	UTSW	6	70,869,667 (GRCm39)	missense	probably benign	0.01
R7168:Eif2ak3	UTSW	6	70,858,610 (GRCm39)	missense	probably benign
R7627:Eif2ak3	UTSW	6	70,869,919 (GRCm39)	missense	probably benign	0.01
R8322:Eif2ak3	UTSW	6	70,855,903 (GRCm39)	missense	probably damaging	1.00
R8693:Eif2ak3	UTSW	6	70,858,535 (GRCm39)	missense	possibly damaging	0.94
R8729:Eif2ak3	UTSW	6	70,821,864 (GRCm39)	missense	probably benign	0.00
R8924:Eif2ak3	UTSW	6	70,870,003 (GRCm39)	missense	probably damaging	1.00
R9127:Eif2ak3	UTSW	6	70,860,704 (GRCm39)	missense	probably damaging	1.00
R9156:Eif2ak3	UTSW	6	70,860,614 (GRCm39)	missense	probably damaging	1.00
R9171:Eif2ak3	UTSW	6	70,835,419 (GRCm39)	missense	probably damaging	1.00
R9608:Eif2ak3	UTSW	6	70,841,511 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCACCTTTAAACCGGGTGGAAAC -3'
(R):5'- CATCAAACAGGCTGATGGGGATGAC -3'

Sequencing Primer
(F):5'- TTTAAACCGGGTGGAAACAAAGAAG -3'
(R):5'- ctctctccctccctccttc -3'

Posted On

2013-04-11