Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Pi4k2a'

490474

Institutional Source

Beutler Lab

Gene Symbol

Pi4k2a

Ensembl Gene

ENSMUSG00000025178

Gene Name

phosphatidylinositol 4-kinase type 2 alpha

Synonyms

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R5846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42078909-42110526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42103477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 329 (D329G)

Ref Sequence

ENSEMBL: ENSMUSP00000069284 (fasta)

Gene Model

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

AlphaFold

Q2TBE6

Predicted Effect

probably benign
Transcript: ENSMUST00000066778
AA Change: D329G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: D329G

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

Meta Mutation Damage Score

0.1296

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s1	G	A	6: 124,517,912 (GRCm39)	P23S	possibly damaging	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Chrm2	A	T	6: 36,500,385 (GRCm39)	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Hpgd	T	A	8: 56,760,702 (GRCm39)	I133N	possibly damaging	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Mafa	A	G	15: 75,619,627 (GRCm39)	S49P	probably benign	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Numb	G	T	12: 83,923,521 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
Or6c6c	A	T	10: 129,540,756 (GRCm39)	N3I	probably damaging	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tk1	G	T	11: 117,706,748 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GAGATGAGCTGTCTTGCTGC -3'
(R):5'- GTGTAAAATGCCTGAAGCTACAG -3'

Sequencing Primer
(F):5'- AGGGTCCCTCTATCTAGCCATGG -3'
(R):5'- AAATGCCTGAAGCTACAGTATTTC -3'

Posted On

2017-10-20