Mutagenetix > Incidental Mutation

Incidental Mutation 'R9000:Pip4k2a'

684894

Institutional Source

Beutler Lab

Gene Symbol

Pip4k2a

Ensembl Gene

ENSMUSG00000026737

Gene Name

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

Synonyms

Pip5k2a

MMRRC Submission

068831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9000 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18847066-19002937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 18877240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 165 (Y165S)

Ref Sequence

ENSEMBL: ENSMUSP00000006912 (fasta)

Gene Model

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

AlphaFold

O70172

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006912
AA Change: Y165S

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006912
Gene: ENSMUSG00000026737
AA Change: Y165S

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119075
Gene: ENSMUSG00000026737
AA Change: Y67S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

90% (55/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,195 (GRCm39)	N749S	probably damaging	Het
Acsl5	T	C	19: 55,283,943 (GRCm39)	*684Q	probably null	Het
Actr5	A	T	2: 158,478,610 (GRCm39)	T487S	probably benign	Het
Adam18	T	A	8: 25,127,162 (GRCm39)	H478L	probably benign	Het
Adam5	A	T	8: 25,294,372 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,854,570 (GRCm39)	N475S	probably benign	Het
Akap9	G	A	5: 4,105,650 (GRCm39)	R2907H	probably benign	Het
Anapc1	A	G	2: 128,476,628 (GRCm39)	V1330A	probably damaging	Het
Arhgef37	A	T	18: 61,637,333 (GRCm39)	M443K	possibly damaging	Het
Atp13a1	T	A	8: 70,254,725 (GRCm39)	H753Q	probably damaging	Het
C2cd3	A	G	7: 100,065,281 (GRCm39)	H311R		Het
Cdh23	A	G	10: 60,140,277 (GRCm39)	Y3222H	possibly damaging	Het
Ces2f	A	G	8: 105,677,661 (GRCm39)	D222G	probably benign	Het
Cnot9	C	T	1: 74,561,544 (GRCm39)	R130C	probably benign	Het
Cntnap2	G	A	6: 46,461,139 (GRCm39)		probably benign	Het
Daam2	A	G	17: 49,769,197 (GRCm39)	L932P	probably damaging	Het
Dgki	T	C	6: 37,074,643 (GRCm39)		probably benign	Het
Dync1h1	A	C	12: 110,606,397 (GRCm39)	Q2489P	probably benign	Het
Elovl2	A	G	13: 41,338,810 (GRCm39)	L280S	probably benign	Het
Fat1	C	A	8: 45,497,587 (GRCm39)	Y4357*	probably null	Het
Fat3	T	A	9: 15,871,816 (GRCm39)	Q3525L	possibly damaging	Het
Fat3	T	C	9: 15,918,095 (GRCm39)	I1443V	probably benign	Het
Fzd1	A	G	5: 4,806,211 (GRCm39)	I457T	probably damaging	Het
Kcnq5	G	T	1: 21,557,483 (GRCm39)	F332L	probably damaging	Het
Meiob	A	G	17: 25,047,916 (GRCm39)		probably benign	Het
Mrgprb4	A	G	7: 47,848,769 (GRCm39)	L53P	probably damaging	Het
Myt1l	G	A	12: 29,901,740 (GRCm39)	V832I	unknown	Het
Nckap5l	G	A	15: 99,321,310 (GRCm39)	P1186S	probably damaging	Het
Ndufa4l2	A	T	10: 127,350,898 (GRCm39)	R16S	probably benign	Het
Nrg2	T	C	18: 36,151,682 (GRCm39)	Y620C	probably damaging	Het
Or4p4b-ps1	T	A	2: 88,454,525 (GRCm39)	*293R	probably null	Het
Or52a24	T	C	7: 103,381,672 (GRCm39)	S180P	probably damaging	Het
Plcd4	T	A	1: 74,601,024 (GRCm39)	C500*	probably null	Het
Plcl1	C	T	1: 55,736,990 (GRCm39)	P777L	probably damaging	Het
Pnliprp2	T	C	19: 58,762,555 (GRCm39)	Y387H	probably benign	Het
Prdm15	A	T	16: 97,595,470 (GRCm39)	D1119E	probably benign	Het
Prss51	T	C	14: 64,332,420 (GRCm39)	S36P	possibly damaging	Het
Prune1	A	G	3: 95,162,635 (GRCm39)	V346A	probably benign	Het
Saxo5	T	C	8: 3,526,083 (GRCm39)	S79P	possibly damaging	Het
Scn5a	T	C	9: 119,321,171 (GRCm39)	T1464A	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGG	GGGGCCCAGCTCAGCCACAGGG	7: 126,066,743 (GRCm39)		probably benign	Het
Sim1	T	G	10: 50,860,316 (GRCm39)	I726S	probably benign	Het
Sim1	T	G	10: 50,860,317 (GRCm39)	I726M	possibly damaging	Het
Slc38a4	G	A	15: 96,897,475 (GRCm39)	P447S	possibly damaging	Het
Slc5a12	A	G	2: 110,454,525 (GRCm39)	E362G	probably damaging	Het
Slc5a8	C	A	10: 88,762,089 (GRCm39)	N576K	probably benign	Het
Slc5a8	T	A	10: 88,762,090 (GRCm39)	Y577N	probably benign	Het
Snn	A	G	16: 10,890,322 (GRCm39)	E47G	probably damaging	Het
Snx19	T	C	9: 30,375,619 (GRCm39)	V207A	unknown	Het
Srcap	G	A	7: 127,130,943 (GRCm39)	V720I	possibly damaging	Het
Syn3	T	A	10: 85,893,489 (GRCm39)	R451S	unknown	Het
Tdrp	A	G	8: 14,003,989 (GRCm39)	V116A	probably benign	Het
Tef	G	A	15: 81,695,773 (GRCm39)	M1I	probably null	Het
Vmn1r232	T	C	17: 21,134,111 (GRCm39)	K163R	probably damaging	Het
Wrnip1	A	G	13: 32,986,711 (GRCm39)	E164G	probably damaging	Het
Zcchc14	T	G	8: 122,336,880 (GRCm39)	H178P	unknown	Het
Zfp37	T	G	4: 62,126,651 (GRCm39)	K69T	unknown	Het
Zfp947	A	G	17: 22,365,161 (GRCm39)	L171P	probably benign	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
R1673:Pip4k2a	UTSW	2	18,877,093 (GRCm39)	critical splice donor site	probably null
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
R9389:Pip4k2a	UTSW	2	18,912,890 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGGCTTGTGCAAATGAACGTG -3'
(R):5'- GAGCCACTGTGTTCAATTTTGAC -3'

Sequencing Primer
(F):5'- GTGCAAATGAACGTGAAACTTATTG -3'
(R):5'- CATTACAGATTAGTTGGGCTACTAGG -3'

Posted On

2021-10-11