Mutagenetix > Incidental Mutation

Incidental Mutation 'R1673:Pip4k2a'

187777

Institutional Source

Beutler Lab

Gene Symbol

Pip4k2a

Ensembl Gene

ENSMUSG00000026737

Gene Name

phosphatidylinositol-5-phosphate 4-kinase, type II, alpha

Synonyms

Pip5k2a

MMRRC Submission

039709-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18847066-19002937 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 18877093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006912]

AlphaFold

O70172

Predicted Effect

probably null
Transcript: ENSMUST00000006912

SMART Domains

Protein: ENSMUSP00000006912
Gene: ENSMUSG00000026737

Domain	Start	End	E-Value	Type
PIPKc	62	405	1.19e-169	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000152981

SMART Domains

Protein: ENSMUSP00000119075
Gene: ENSMUSG00000026737

Domain	Start	End	E-Value	Type
Pfam:PIP5K	18	198	1.4e-43	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and appear phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,165 (GRCm39)	S809G	probably benign	Het
Ap4b1	T	A	3: 103,725,161 (GRCm39)		probably null	Het
Aqp12	A	G	1: 92,934,606 (GRCm39)	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 60,028,689 (GRCm39)	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,504,988 (GRCm39)	N314I	probably damaging	Het
Cd209d	A	G	8: 3,927,113 (GRCm39)	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,007,086 (GRCm39)	K554*	probably null	Het
Celsr1	A	G	15: 85,816,658 (GRCm39)	Y1762H	probably benign	Het
Cklf	A	G	8: 104,983,983 (GRCm39)	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,600,820 (GRCm39)	I755L	probably benign	Het
Cts3	G	A	13: 61,715,368 (GRCm39)	Q140*	probably null	Het
Ddx1	A	T	12: 13,294,967 (GRCm39)		probably null	Het
Dnah3	C	A	7: 119,570,402 (GRCm39)	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,294 (GRCm39)	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,464,561 (GRCm39)	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,042,679 (GRCm39)	F25L	probably damaging	Het
Efhd1	T	A	1: 87,192,404 (GRCm39)	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,847,967 (GRCm39)		probably null	Het
Elp2	T	A	18: 24,744,983 (GRCm39)	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,773,592 (GRCm39)		probably null	Het
F5	A	G	1: 164,007,089 (GRCm39)	T298A	probably damaging	Het
Fbxo21	G	T	5: 118,146,129 (GRCm39)	R584L	probably benign	Het
Fbxw22	G	T	9: 109,211,196 (GRCm39)	F368L	possibly damaging	Het
Gcn1	T	C	5: 115,720,356 (GRCm39)	I409T	probably benign	Het
Gm12887	T	C	4: 121,473,655 (GRCm39)	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637 (GRCm39)	Q224*	probably null	Het
Hdac5	C	T	11: 102,089,631 (GRCm39)	V860M	probably damaging	Het
Ino80	G	A	2: 119,212,417 (GRCm39)	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,966 (GRCm39)	I110F	probably damaging	Het
Lrig3	A	G	10: 125,846,036 (GRCm39)	T822A	probably damaging	Het
Mapk6	T	C	9: 75,302,851 (GRCm39)	D214G	probably damaging	Het
Mcm2	A	T	6: 88,869,060 (GRCm39)	L264Q	probably benign	Het
Mpnd	A	T	17: 56,317,455 (GRCm39)	Y64F	probably damaging	Het
Muc1	T	A	3: 89,139,079 (GRCm39)	M520K	possibly damaging	Het
Muc4	T	A	16: 32,577,276 (GRCm39)	S189T	probably benign	Het
Myh13	T	C	11: 67,242,945 (GRCm39)	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,706,230 (GRCm39)	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,841 (GRCm39)	I116T	probably damaging	Het
Nptn	T	C	9: 58,531,015 (GRCm39)	L46P	probably benign	Het
Or2b6	A	T	13: 21,823,214 (GRCm39)	S160T	probably damaging	Het
Or4k77	A	G	2: 111,199,552 (GRCm39)	T192A	probably benign	Het
Or51ag1	C	A	7: 103,155,896 (GRCm39)	V86F	probably damaging	Het
Or5ae1	T	A	7: 84,565,325 (GRCm39)	F113I	probably damaging	Het
Pgr	A	T	9: 8,902,069 (GRCm39)	Y534F	possibly damaging	Het
Pkd1l2	C	G	8: 117,767,514 (GRCm39)	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,085,426 (GRCm39)	E457G	probably damaging	Het
Rasa4	T	A	5: 136,133,491 (GRCm39)	V650D	probably benign	Het
Rem2	C	T	14: 54,713,766 (GRCm39)		probably benign	Het
Rps18-ps6	A	T	13: 97,896,868 (GRCm39)	Y77N	possibly damaging	Het
Sdc1	G	A	12: 8,840,409 (GRCm39)	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,934,261 (GRCm39)	E366G	possibly damaging	Het
Setd2	T	A	9: 110,433,248 (GRCm39)	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,949,891 (GRCm39)	V397A	probably benign	Het
Slc36a2	A	T	11: 55,075,739 (GRCm39)	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468 (GRCm39)	V334A	probably benign	Het
Sox8	A	T	17: 25,786,456 (GRCm39)	Y416N	possibly damaging	Het
Speg	T	C	1: 75,387,807 (GRCm39)	V1416A	possibly damaging	Het
Stimate	T	C	14: 30,586,391 (GRCm39)	L72S	possibly damaging	Het
Stk24	T	A	14: 121,574,983 (GRCm39)	I42F	probably damaging	Het
Tasor2	A	G	13: 3,634,498 (GRCm39)		probably null	Het
Tcerg1	T	A	18: 42,685,646 (GRCm39)	L661Q	possibly damaging	Het
Tpp1	G	A	7: 105,396,880 (GRCm39)	R417W	probably damaging	Het
Trim12a	T	A	7: 103,955,264 (GRCm39)	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,778,778 (GRCm39)	N396S	probably benign	Het
Ttn	T	C	2: 76,637,427 (GRCm39)	K5695R	probably damaging	Het
Ttn	G	A	2: 76,640,631 (GRCm39)	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,310,906 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,779,438 (GRCm39)	L1273H	probably damaging	Het
Usp33	A	G	3: 152,073,919 (GRCm39)	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,350,138 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,423,315 (GRCm39)	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 35,115,284 (GRCm39)		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 35,115,286 (GRCm39)		probably null	Het
Zfp408	G	A	2: 91,476,353 (GRCm39)	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,230,286 (GRCm39)	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,258,949 (GRCm39)	T638A	probably benign	Het
Zfp932	G	T	5: 110,156,854 (GRCm39)	G151V	probably damaging	Het
Zpbp	T	C	11: 11,302,696 (GRCm39)	K320E	probably damaging	Het
Zranb2	C	T	3: 157,243,277 (GRCm39)	P91L	probably damaging	Het

Other mutations in Pip4k2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Pip4k2a	APN	2	18,877,147 (GRCm39)	missense	probably benign	0.10
IGL01682:Pip4k2a	APN	2	19,002,779 (GRCm39)	missense	probably benign
IGL02379:Pip4k2a	APN	2	18,870,922 (GRCm39)	critical splice donor site	probably null
R0096:Pip4k2a	UTSW	2	18,893,850 (GRCm39)	splice site	probably benign
R0184:Pip4k2a	UTSW	2	18,893,939 (GRCm39)	missense	probably damaging	0.96
R0514:Pip4k2a	UTSW	2	18,850,747 (GRCm39)	missense	probably damaging	0.99
R1779:Pip4k2a	UTSW	2	18,852,433 (GRCm39)	missense	probably benign	0.27
R2198:Pip4k2a	UTSW	2	18,852,466 (GRCm39)	missense	probably damaging	0.98
R4555:Pip4k2a	UTSW	2	18,877,103 (GRCm39)	missense	probably damaging	0.99
R5408:Pip4k2a	UTSW	2	18,911,119 (GRCm39)	missense	probably benign	0.03
R7598:Pip4k2a	UTSW	2	18,877,098 (GRCm39)	missense	possibly damaging	0.50
R8971:Pip4k2a	UTSW	2	18,852,367 (GRCm39)	missense	probably benign	0.00
R9000:Pip4k2a	UTSW	2	18,877,240 (GRCm39)	missense	possibly damaging	0.64
R9389:Pip4k2a	UTSW	2	18,912,890 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGGCTGCTTAATCCTACGTGC -3'
(R):5'- GCTGACTTGTCGTTAACTCAGGGC -3'

Sequencing Primer
(F):5'- ATATGGGCGAGTAGGCTTGT -3'
(R):5'- GTGGACAGTCCTTCACTTCAAAG -3'

Posted On

2014-05-09