Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02959:Pi4k2a'

365262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pi4k2a

Ensembl Gene

ENSMUSG00000025178

Gene Name

phosphatidylinositol 4-kinase type 2 alpha

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

IGL02959

Quality Score

Status

Chromosome

Chromosomal Location

42078909-42110526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42101510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 317 (K317N)

Ref Sequence

ENSEMBL: ENSMUSP00000069284 (fasta)

Gene Model

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

AlphaFold

Q2TBE6

Predicted Effect

probably benign
Transcript: ENSMUST00000066778
AA Change: K317N

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: K317N

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,544,023 (GRCm39)	A506D	probably benign	Het
Agap1	G	T	1: 89,770,913 (GRCm39)	V635L	possibly damaging	Het
Akr1c12	T	C	13: 4,329,331 (GRCm39)	K9E	probably benign	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Bcr	T	C	10: 74,996,222 (GRCm39)	F922S	probably benign	Het
Cfap44	T	A	16: 44,291,230 (GRCm39)		probably benign	Het
Chil5	A	G	3: 105,926,906 (GRCm39)	V243A	probably damaging	Het
Csmd1	A	G	8: 15,960,465 (GRCm39)	C3317R	probably damaging	Het
Dsc1	T	C	18: 20,241,942 (GRCm39)	K133R	probably damaging	Het
Ecm1	T	A	3: 95,644,989 (GRCm39)	Q136L	probably damaging	Het
Fscn3	C	A	6: 28,435,997 (GRCm39)	A431E	possibly damaging	Het
Gas7	C	T	11: 67,565,061 (GRCm39)		probably benign	Het
Gbx2	A	G	1: 89,856,517 (GRCm39)	V291A	probably damaging	Het
Hipk3	G	A	2: 104,301,604 (GRCm39)	T196M	probably damaging	Het
Il20ra	T	A	10: 19,634,789 (GRCm39)	N343K	probably benign	Het
Il24	C	T	1: 130,813,470 (GRCm39)	W42*	probably null	Het
Kif13b	A	T	14: 65,005,166 (GRCm39)	I1153F	probably damaging	Het
Krt1c	A	T	15: 101,719,763 (GRCm39)	S636T	unknown	Het
Or11g24	A	T	14: 50,662,389 (GRCm39)	M138L	possibly damaging	Het
Or13a25	C	T	7: 140,247,463 (GRCm39)	P81S	probably damaging	Het
Or14c40	T	C	7: 86,313,737 (GRCm39)	F289S	probably damaging	Het
Or4k52	T	A	2: 111,610,955 (GRCm39)	C97S	probably damaging	Het
Or6d15	A	T	6: 116,559,505 (GRCm39)	M134K	probably damaging	Het
Osmr	T	C	15: 6,845,378 (GRCm39)	D796G	possibly damaging	Het
Peli2	A	T	14: 48,477,754 (GRCm39)	T99S	probably benign	Het
Pik3r1	T	G	13: 101,894,037 (GRCm39)	D44A	probably benign	Het
Pkhd1	G	T	1: 20,678,640 (GRCm39)	S96*	probably null	Het
Plekha5	A	G	6: 140,489,904 (GRCm39)	E9G	probably damaging	Het
Plekha8	T	C	6: 54,592,254 (GRCm39)	F71S	probably damaging	Het
Polq	G	T	16: 36,906,928 (GRCm39)	L2296F	probably damaging	Het
Rbm5	G	A	9: 107,631,384 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,295,366 (GRCm39)	K217E	probably damaging	Het
Scrib	A	G	15: 75,937,056 (GRCm39)	L350P	probably damaging	Het
Slc4a10	T	A	2: 62,098,487 (GRCm39)	S540R	probably damaging	Het
Smc3	G	T	19: 53,611,988 (GRCm39)	V354L	probably benign	Het
Smurf1	T	A	5: 144,836,199 (GRCm39)	I105F	probably damaging	Het
Stx7	G	T	10: 24,031,247 (GRCm39)	R17L	probably benign	Het
Tbca	C	T	13: 94,979,203 (GRCm39)	R74C	probably benign	Het
Tmem92	T	C	11: 94,669,504 (GRCm39)	Q153R	possibly damaging	Het
Trim41	C	A	11: 48,698,307 (GRCm39)	G553V	probably damaging	Het
Trim75	A	T	8: 65,435,417 (GRCm39)	N344K	possibly damaging	Het
Tsr1	A	G	11: 74,791,075 (GRCm39)	D218G	probably benign	Het
Ubr2	A	C	17: 47,286,877 (GRCm39)	V474G	probably damaging	Het
Unc45a	T	G	7: 79,982,721 (GRCm39)		probably benign	Het
Zfp609	C	T	9: 65,610,675 (GRCm39)	A763T	probably benign	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
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
R5867:Pi4k2a	UTSW	19	42,093,924 (GRCm39)	critical splice donor site	probably null
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

Posted On

2015-12-18