Mutagenetix > Incidental Mutation

Incidental Mutation 'R6502:Pi4k2a'

519832

Institutional Source

Beutler Lab

Gene Symbol

Pi4k2a

Ensembl Gene

ENSMUSG00000025178

Gene Name

phosphatidylinositol 4-kinase type 2 alpha

Synonyms

MMRRC Submission

044634-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R6502 (G1)

Quality Score

88.0076

Status

Not validated

Chromosome

Chromosomal Location

42078909-42110526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42079371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 144 (Q144R)

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 benign
Transcript: ENSMUST00000066778
AA Change: Q144R

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: Q144R

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: 99.6%
10x: 98.2%
20x: 94.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,333,908 (GRCm39)	I24K	probably benign	Het
Adamts9	A	T	6: 92,849,316 (GRCm39)	C467S	probably damaging	Het
Adcy7	G	A	8: 89,052,107 (GRCm39)	R925Q	probably damaging	Het
Akap6	G	A	12: 53,186,998 (GRCm39)	G1471S	probably damaging	Het
Ap2b1	T	C	11: 83,233,505 (GRCm39)	V506A	probably damaging	Het
Apob	A	G	12: 8,051,814 (GRCm39)	I1113M	probably damaging	Het
Arsg	A	T	11: 109,408,162 (GRCm39)	N105Y	probably damaging	Het
Blm	T	A	7: 80,131,223 (GRCm39)	Y872F	probably damaging	Het
Btaf1	A	T	19: 36,961,017 (GRCm39)	N797Y	probably benign	Het
Camsap1	T	C	2: 25,846,320 (GRCm39)	E201G	probably damaging	Het
Ccdc122	T	A	14: 77,279,509 (GRCm39)		probably null	Homo
Ccdc141	A	G	2: 77,000,745 (GRCm39)	V29A	probably damaging	Het
Cd244a	T	A	1: 171,405,447 (GRCm39)	D277E	probably benign	Het
Cfap157	T	C	2: 32,670,690 (GRCm39)	Y186C	probably damaging	Het
Ciita	C	T	16: 10,329,774 (GRCm39)	A686V	probably damaging	Het
Clptm1l	T	C	13: 73,765,884 (GRCm39)		probably null	Het
Col16a1	C	T	4: 129,949,787 (GRCm39)	P50L	probably damaging	Het
Crisp3	A	T	17: 40,546,804 (GRCm39)	V38D	probably damaging	Het
Cyfip2	T	C	11: 46,112,173 (GRCm39)	E1010G	probably damaging	Het
Dvl3	G	A	16: 20,346,133 (GRCm39)	E488K	probably damaging	Het
Eed	C	A	7: 89,626,237 (GRCm39)	E45D	probably benign	Het
Eln	A	G	5: 134,754,628 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,244,043 (GRCm39)	I239F	probably damaging	Het
Fbxw5	T	A	2: 25,392,448 (GRCm39)	Y77N	possibly damaging	Het
Garnl3	T	C	2: 32,896,833 (GRCm39)	E602G	possibly damaging	Het
Gkn3	A	T	6: 87,365,786 (GRCm39)	M11K	probably benign	Het
Glt1d1	A	G	5: 127,784,045 (GRCm39)	Y333C	probably damaging	Het
Gm10762	A	T	2: 128,809,090 (GRCm39)	Y86*	probably null	Het
Gm14496	A	G	2: 181,642,386 (GRCm39)	M686V	probably benign	Het
Gse1	T	A	8: 121,280,428 (GRCm39)		probably null	Het
Herc4	C	A	10: 63,153,197 (GRCm39)	T1035K	probably benign	Het
Hmcn2	T	A	2: 31,272,490 (GRCm39)	N1323K	probably damaging	Het
Hnrnpd	T	A	5: 100,114,025 (GRCm39)	E3D	probably damaging	Het
Htr7	T	A	19: 35,947,010 (GRCm39)	I335F	probably damaging	Het
Ift70b	T	A	2: 75,767,448 (GRCm39)	N435I	possibly damaging	Het
Itgae	A	T	11: 73,036,418 (GRCm39)	I1119F	probably benign	Het
Lcn11	T	C	2: 25,669,103 (GRCm39)	F137S	probably benign	Het
Lrp3	T	G	7: 34,903,413 (GRCm39)	D311A	possibly damaging	Het
Lrrc1	G	T	9: 77,349,473 (GRCm39)	D364E	probably damaging	Het
Lrrc37a	T	A	11: 103,383,005 (GRCm39)	E2456V	unknown	Het
Lrriq1	T	C	10: 103,063,045 (GRCm39)	Y87C	probably damaging	Het
Mcc	A	T	18: 44,601,457 (GRCm39)	L449*	probably null	Het
Mcc	A	T	18: 44,601,458 (GRCm39)	L624M	probably damaging	Het
Mcm9	T	C	10: 53,488,935 (GRCm39)	T496A	probably damaging	Het
Myef2	T	A	2: 124,958,602 (GRCm39)	D109V	probably damaging	Het
Myom3	C	T	4: 135,489,824 (GRCm39)		probably benign	Het
Nanos1	G	T	19: 60,744,977 (GRCm39)	G92W	possibly damaging	Het
Ncor1	T	A	11: 62,272,240 (GRCm39)	K84*	probably null	Het
Neb	T	A	2: 52,181,094 (GRCm39)	D1171V	probably benign	Het
Notch3	A	G	17: 32,377,191 (GRCm39)	W267R	probably damaging	Het
Or5d39	A	T	2: 87,980,360 (GRCm39)	M1K	probably null	Het
Or8d1	A	C	9: 38,766,933 (GRCm39)	T192P	probably damaging	Het
Per2	A	G	1: 91,355,485 (GRCm39)	S758P	probably benign	Het
Pirb	A	T	7: 3,720,392 (GRCm39)	V327E	probably benign	Het
Pla2g4a	C	T	1: 149,748,367 (GRCm39)	W272*	probably null	Het
Plekha4	T	A	7: 45,180,000 (GRCm39)	M1K	probably null	Het
Ppt2	A	G	17: 34,844,894 (GRCm39)	C117R	probably damaging	Het
Prph	A	T	15: 98,954,267 (GRCm39)	I222F	probably damaging	Het
Rbm43	T	C	2: 51,815,588 (GRCm39)	D211G	probably damaging	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Rnf123	G	T	9: 107,945,531 (GRCm39)	Q380K	possibly damaging	Het
Rnf145	T	C	11: 44,415,932 (GRCm39)	F49S	probably damaging	Het
Sall4	A	G	2: 168,597,628 (GRCm39)	I404T	probably damaging	Het
Slc25a39	G	A	11: 102,295,286 (GRCm39)	P228L	probably damaging	Het
Tbc1d14	T	C	5: 36,677,825 (GRCm39)	T377A	possibly damaging	Het
Tbc1d17	A	G	7: 44,491,049 (GRCm39)	I555T	probably benign	Het
Tmem131l	A	T	3: 83,829,715 (GRCm39)	S980T	probably damaging	Het
Tmem14a	G	T	1: 21,299,662 (GRCm39)	L97F	possibly damaging	Het
Tmem98	T	C	11: 80,703,461 (GRCm39)	V26A	probably benign	Het
Tmppe	G	T	9: 114,234,720 (GRCm39)	G340W	probably damaging	Het
Tsc1	T	C	2: 28,555,613 (GRCm39)	S237P	probably damaging	Het
Ubr4	C	T	4: 139,171,982 (GRCm39)	R2992W	probably damaging	Het
Ugt2a2	A	G	5: 87,608,318 (GRCm39)	V673A	possibly damaging	Het
Vmn2r19	T	C	6: 123,293,067 (GRCm39)	Y370H	possibly damaging	Het
Vmn2r20	A	G	6: 123,373,342 (GRCm39)	F500S	possibly damaging	Het
Zc3h7b	A	G	15: 81,653,252 (GRCm39)	Y47C	probably benign	Het
Zdhhc13	A	G	7: 48,465,308 (GRCm39)	E406G	possibly damaging	Het
Zfp418	T	C	7: 7,185,599 (GRCm39)	S521P	possibly 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
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
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'- TCACTTTCCGCAAGTACCGG -3'
(R):5'- AGCTTGGGTCAGGACTTTTC -3'

Sequencing Primer
(F):5'- AGACCCACACGGTGGCGGTGCA -3'
(R):5'- CCCCTGCAAAAAGGTTCTGATTG -3'

Posted On

2018-06-06