Mutagenetix > Incidental Mutation

Incidental Mutation 'R5867:Pi4k2a'

454253

Institutional Source

Beutler Lab

Gene Symbol

Pi4k2a

Ensembl Gene

ENSMUSG00000025178

Gene Name

phosphatidylinositol 4-kinase type 2 alpha

Synonyms

MMRRC Submission

043233-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R5867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42078909-42110526 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 42093924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066778]

AlphaFold

Q2TBE6

Predicted Effect

probably null
Transcript: ENSMUST00000066778

SMART Domains

Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	68	98	N/A	INTRINSIC
Pfam:PI3_PI4_kinase	133	431	1.7e-67	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,987,416 (GRCm39)	V2900A	probably damaging	Het
Akip1	A	G	7: 109,306,684 (GRCm39)	H127R	probably benign	Het
Alad	A	T	4: 62,431,203 (GRCm39)	Y56N	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Ap1g1	C	T	8: 110,545,614 (GRCm39)	A89V	probably damaging	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Cd209b	T	C	8: 3,974,246 (GRCm39)	I89V	possibly damaging	Het
Cd36	T	C	5: 17,990,733 (GRCm39)	K469R	probably benign	Het
Cdh20	T	A	1: 109,976,581 (GRCm39)	I82N	probably damaging	Het
Clmn	G	T	12: 104,748,014 (GRCm39)	P511H	probably damaging	Het
Cyfip1	A	C	7: 55,576,061 (GRCm39)	D1077A	probably damaging	Het
Cyp2a5	T	C	7: 26,542,383 (GRCm39)	F462L	probably benign	Het
Dclk2	A	G	3: 86,699,166 (GRCm39)	*709Q	probably null	Het
Drd1	T	C	13: 54,208,182 (GRCm39)	T4A	probably benign	Het
Ephb2	C	T	4: 136,402,733 (GRCm39)	V513I	possibly damaging	Het
Fam43a	T	A	16: 30,420,277 (GRCm39)	V287E	probably benign	Het
Gm5134	A	G	10: 75,844,450 (GRCm39)	E602G	probably benign	Het
Gtsf2	C	T	15: 103,348,063 (GRCm39)	G149E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhl6	T	C	16: 19,801,570 (GRCm39)	T62A	probably benign	Het
Lamb1	T	A	12: 31,348,954 (GRCm39)	I662N	possibly damaging	Het
Lmod3	A	G	6: 97,224,963 (GRCm39)	V286A	probably damaging	Het
Mefv	T	C	16: 3,533,797 (GRCm39)	D158G	probably damaging	Het
Mff	T	C	1: 82,728,327 (GRCm39)		probably null	Het
Mfsd6l	G	T	11: 68,448,036 (GRCm39)	V296L	possibly damaging	Het
Neu2	G	T	1: 87,524,478 (GRCm39)	Q154H	probably damaging	Het
Or5m3b	A	G	2: 85,871,795 (GRCm39)	I45M	probably benign	Het
Pdk4	T	A	6: 5,487,452 (GRCm39)	H266L	probably benign	Het
Pdrg1	T	C	2: 152,855,975 (GRCm39)	N40D	probably damaging	Het
Pkd1l2	T	A	8: 117,781,750 (GRCm39)	D765V	probably damaging	Het
Pspc1	A	T	14: 56,999,498 (GRCm39)		probably null	Het
Ptprm	T	C	17: 67,352,976 (GRCm39)		probably null	Het
Spata31d1d	T	C	13: 59,875,054 (GRCm39)	K827R	possibly damaging	Het
Srebf2	T	A	15: 82,053,987 (GRCm39)	F46Y	probably damaging	Het
Tfrc	T	A	16: 32,439,230 (GRCm39)	C365S	possibly damaging	Het
Ttc7	A	G	17: 87,629,900 (GRCm39)	H294R	possibly damaging	Het
Ubr7	T	A	12: 102,727,753 (GRCm39)	Y92N	probably damaging	Het
Vmn1r42	A	C	6: 89,821,761 (GRCm39)	Y269*	probably null	Het
Vmn2r1	A	G	3: 64,011,990 (GRCm39)	E617G	probably benign	Het
Vps13c	A	G	9: 67,889,904 (GRCm39)		probably null	Het
Vps50	T	C	6: 3,536,965 (GRCm39)	L312P	probably damaging	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zcchc3	A	G	2: 152,256,444 (GRCm39)	F85S	probably damaging	Het
Zfhx3	T	C	8: 109,520,078 (GRCm39)	L400P	probably damaging	Het

Other mutations in Pi4k2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Pi4k2a	APN	19	42,093,418 (GRCm39)	missense	probably damaging	1.00
IGL02959:Pi4k2a	APN	19	42,101,510 (GRCm39)	missense	probably benign	0.42
R1570:Pi4k2a	UTSW	19	42,089,083 (GRCm39)	missense	probably benign	0.33
R1992:Pi4k2a	UTSW	19	42,104,377 (GRCm39)	missense	probably damaging	1.00
R2113:Pi4k2a	UTSW	19	42,103,510 (GRCm39)	missense	possibly damaging	0.78
R2358:Pi4k2a	UTSW	19	42,079,131 (GRCm39)	missense	probably damaging	0.99
R2410:Pi4k2a	UTSW	19	42,093,316 (GRCm39)	missense	possibly damaging	0.55
R3547:Pi4k2a	UTSW	19	42,078,987 (GRCm39)	missense	probably benign	0.10
R3708:Pi4k2a	UTSW	19	42,079,370 (GRCm39)	nonsense	probably null
R3712:Pi4k2a	UTSW	19	42,079,131 (GRCm39)	missense	probably damaging	0.99
R3954:Pi4k2a	UTSW	19	42,104,338 (GRCm39)	missense	probably damaging	0.98
R4654:Pi4k2a	UTSW	19	42,101,544 (GRCm39)	critical splice donor site	probably null
R5077:Pi4k2a	UTSW	19	42,108,275 (GRCm39)	splice site	probably null
R5386:Pi4k2a	UTSW	19	42,078,954 (GRCm39)	missense	probably damaging	0.99
R5846:Pi4k2a	UTSW	19	42,103,477 (GRCm39)	missense	probably benign	0.01
R5878:Pi4k2a	UTSW	19	42,089,080 (GRCm39)	missense	probably benign	0.02
R6502:Pi4k2a	UTSW	19	42,079,371 (GRCm39)	missense	probably benign	0.04
R7042:Pi4k2a	UTSW	19	42,093,337 (GRCm39)	missense	probably benign	0.18
R7269:Pi4k2a	UTSW	19	42,079,125 (GRCm39)	missense	probably damaging	1.00
R7819:Pi4k2a	UTSW	19	42,079,013 (GRCm39)	missense	probably benign
R8249:Pi4k2a	UTSW	19	42,103,501 (GRCm39)	missense	probably benign	0.00
R8560:Pi4k2a	UTSW	19	42,089,151 (GRCm39)	nonsense	probably null
R9038:Pi4k2a	UTSW	19	42,089,235 (GRCm39)	missense	probably damaging	1.00
Z1177:Pi4k2a	UTSW	19	42,093,364 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTAACTTGGCCTCCACAGAGATG -3'
(R):5'- CTGCCTCTGACAACTTGCAG -3'

Sequencing Primer
(F):5'- GGCCTCCACAGAGATGCTTTTG -3'
(R):5'- CTCTGACAACTTGCAGATGCTATATC -3'

Posted On

2017-02-10