Mutagenetix > Incidental Mutation

Incidental Mutation 'R7269:Pi4k2a'

565196

Institutional Source

Beutler Lab

Gene Symbol

Pi4k2a

Ensembl Gene

ENSMUSG00000025178

Gene Name

phosphatidylinositol 4-kinase type 2 alpha

Synonyms

MMRRC Submission

045320-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R7269 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

42078909-42110526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42079125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 62 (L62P)

Ref Sequence

ENSEMBL: ENSMUSP00000069284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051772] [ENSMUST00000066778]

AlphaFold

Q2TBE6

Predicted Effect

probably benign
Transcript: ENSMUST00000051772

SMART Domains

Protein: ENSMUSP00000062887
Gene: ENSMUSG00000049670

Domain	Start	End	E-Value	Type
MORN	14	35	1.64e-5	SMART
MORN	37	58	4.15e-2	SMART
MORN	60	81	1.86e-4	SMART
MORN	83	104	1.84e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000066778
AA Change: L62P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: L62P

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	T	18: 24,606,013 (GRCm39)	N36I	probably damaging	Het
A430033K04Rik	T	A	5: 138,645,014 (GRCm39)	Y300N	possibly damaging	Het
Adipor2	T	C	6: 119,347,205 (GRCm39)	Q26R	probably benign	Het
Ahnak	T	A	19: 8,983,981 (GRCm39)	M1755K	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
AI837181	C	A	19: 5,476,462 (GRCm39)	S208R	probably damaging	Het
Arhgap35	T	G	7: 16,295,652 (GRCm39)	M1138L	probably benign	Het
Card14	T	G	11: 119,228,573 (GRCm39)	L633R	probably damaging	Het
Carmil3	A	G	14: 55,731,352 (GRCm39)	T144A	probably benign	Het
Cbfa2t2	T	A	2: 154,357,895 (GRCm39)	N223K	probably benign	Het
Ccdc39	T	C	3: 33,884,254 (GRCm39)	I363V	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccpg1	G	T	9: 72,920,609 (GRCm39)	R741S	probably benign	Het
Cenpc1	A	G	5: 86,161,366 (GRCm39)	F855L	probably damaging	Het
Cenpc1	A	T	5: 86,180,277 (GRCm39)	M665K	probably benign	Het
Cp	A	G	3: 20,037,641 (GRCm39)	H832R	probably damaging	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dlc1	A	C	8: 37,046,407 (GRCm39)	L730R	probably damaging	Het
Dmbt1	A	T	7: 130,668,351 (GRCm39)	I536F	unknown	Het
Dscam	G	A	16: 96,479,601 (GRCm39)	T1182I	probably benign	Het
Eea1	A	T	10: 95,854,000 (GRCm39)	I553F	probably damaging	Het
Far1	T	C	7: 113,160,654 (GRCm39)	V400A	probably benign	Het
Fbrsl1	A	T	5: 110,580,880 (GRCm39)	S126T	probably benign	Het
Frmpd2	A	T	14: 33,244,838 (GRCm39)	E552V	possibly damaging	Het
Gm5431	T	A	11: 48,779,237 (GRCm39)	T562S	probably benign	Het
Gm5475	T	C	15: 100,324,890 (GRCm39)	F106S	unknown	Het
Gpr12	T	C	5: 146,520,188 (GRCm39)	T245A	probably damaging	Het
Gsta2	A	G	9: 78,239,419 (GRCm39)	Y166H	probably benign	Het
H6pd	A	G	4: 150,067,369 (GRCm39)	V347A	probably benign	Het
Ifih1	T	C	2: 62,475,977 (GRCm39)	T100A	probably benign	Het
Ift70b	A	G	2: 75,767,838 (GRCm39)	F305S	probably damaging	Het
Itga2	C	T	13: 115,023,225 (GRCm39)	W59*	probably null	Het
Knstrn	T	A	2: 118,661,869 (GRCm39)		probably null	Het
Kprp	A	G	3: 92,731,178 (GRCm39)	V624A	probably damaging	Het
Lmbrd2	A	G	15: 9,194,771 (GRCm39)	Y591C	probably damaging	Het
Map7d1	A	G	4: 126,126,666 (GRCm39)	V842A	unknown	Het
Mboat2	A	T	12: 24,881,708 (GRCm39)	T4S	probably benign	Het
Mcph1	T	A	8: 18,657,288 (GRCm39)		probably null	Het
Mrtfb	A	T	16: 13,218,898 (GRCm39)	M515L	possibly damaging	Het
Muc5b	A	G	7: 141,411,272 (GRCm39)	D1406G	unknown	Het
Mylk	G	A	16: 34,605,381 (GRCm39)	G3D	probably damaging	Het
Ndst4	A	G	3: 125,232,007 (GRCm39)	D192G	probably damaging	Het
Nemp1	G	T	10: 127,531,345 (GRCm39)	R361L	probably damaging	Het
Nol4	A	C	18: 23,172,846 (GRCm39)	V85G	probably benign	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Obscn	T	C	11: 58,933,838 (GRCm39)	E5342G	probably damaging	Het
Or10al7	C	A	17: 38,366,442 (GRCm39)	C5F	probably damaging	Het
Or4f47	T	A	2: 111,972,905 (GRCm39)	F205Y	probably damaging	Het
Or4p19	C	T	2: 88,242,839 (GRCm39)	M54I	possibly damaging	Het
Or51d1	T	G	7: 102,348,252 (GRCm39)	L269R	probably damaging	Het
Or7d10	A	G	9: 19,831,631 (GRCm39)	N42S	possibly damaging	Het
Pakap	G	T	4: 57,855,217 (GRCm39)	R182L	probably damaging	Het
Pde4dip	A	G	3: 97,674,275 (GRCm39)	S214P	probably damaging	Het
Per3	A	T	4: 151,116,393 (GRCm39)	C278*	probably null	Het
Plekha7	C	A	7: 115,780,447 (GRCm39)	G126W	probably damaging	Het
Ppp1r13b	T	C	12: 111,801,353 (GRCm39)	K567E	probably damaging	Het
Pradc1	T	A	6: 85,424,548 (GRCm39)	Q134L	probably benign	Het
Pwp2	A	G	10: 78,012,170 (GRCm39)	F628L	probably benign	Het
Rab5c	C	T	11: 100,606,928 (GRCm39)	G217D	probably benign	Het
Rad51ap2	G	T	12: 11,506,807 (GRCm39)	S243I	possibly damaging	Het
Rasgrp4	C	A	7: 28,847,855 (GRCm39)	R432S	probably damaging	Het
Rhot2	C	T	17: 26,061,402 (GRCm39)		probably null	Het
Scn2a	T	A	2: 65,594,113 (GRCm39)	L1654Q	probably damaging	Het
Skint6	A	T	4: 112,711,686 (GRCm39)		probably null	Het
Slc22a28	T	A	19: 8,094,491 (GRCm39)	T177S	probably benign	Het
Slc25a24	G	T	3: 109,065,960 (GRCm39)	Q272H	probably null	Het
Slc3a1	A	T	17: 85,339,873 (GRCm39)	I144F	probably damaging	Het
Smg9	C	T	7: 24,105,495 (GRCm39)	R176C	possibly damaging	Het
Sorl1	A	T	9: 41,948,499 (GRCm39)	L762Q	probably damaging	Het
Srebf2	C	A	15: 82,088,270 (GRCm39)	P1079T	probably benign	Het
Sub1	A	T	15: 11,993,937 (GRCm39)	S4T	probably benign	Het
Tacr1	A	T	6: 82,469,692 (GRCm39)	Y192F	probably benign	Het
Tm4sf19	A	T	16: 32,224,814 (GRCm39)	H54L	probably damaging	Het
Tnxb	T	C	17: 34,914,428 (GRCm39)	L1838P	probably damaging	Het
Trmt1l	T	C	1: 151,333,539 (GRCm39)	S681P	possibly damaging	Het
Ttn	A	G	2: 76,738,176 (GRCm39)	V4167A	unknown	Het
Unc13d	T	A	11: 115,959,056 (GRCm39)	M702L	probably benign	Het
Vgll3	A	G	16: 65,636,404 (GRCm39)	H240R	probably benign	Het
Vmn1r189	C	G	13: 22,286,737 (GRCm39)	W33C	probably benign	Het
Vmn2r17	G	A	5: 109,576,337 (GRCm39)	A403T	possibly damaging	Het
Vmn2r2	G	A	3: 64,033,998 (GRCm39)	T508I	probably benign	Het
Vps54	T	A	11: 21,227,670 (GRCm39)		probably null	Het
Wfs1	G	A	5: 37,125,134 (GRCm39)	Q586*	probably null	Het
Zbp1	A	T	2: 173,055,665 (GRCm39)	H166Q	unknown	Het
Zcchc3	G	A	2: 152,256,294 (GRCm39)	A135V	probably benign	Het
Zfp51	T	C	17: 21,683,960 (GRCm39)	Y192H	probably benign	Het
Zkscan2	T	C	7: 123,088,994 (GRCm39)	T426A	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
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
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
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'- ACGCGTCGCCAAGTAAACAG -3'
(R):5'- ATGCTGCACTCGATGGCAAC -3'

Sequencing Primer
(F):5'- CGTCGCCAAGTAAACAGGACAG -3'
(R):5'- TCGAACTCGGGGTCCTC -3'

Posted On

2019-06-26