Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Pip4k2a'

238476

Institutional Source

Beutler Lab

Gene Symbol

Pip4k2a

Ensembl Gene

ENSMUSG00000026737

Gene Name

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

Synonyms

Pip5k2a

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18847066-19002937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18852466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 272 (M272K)

Ref Sequence

ENSEMBL: ENSMUSP00000006912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006912] [ENSMUST00000148583]

AlphaFold

O70172

Predicted Effect

probably damaging
Transcript: ENSMUST00000006912
AA Change: M272K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006912
Gene: ENSMUSG00000026737
AA Change: M272K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148583

SMART Domains

Protein: ENSMUSP00000115475
Gene: ENSMUSG00000026737

Domain	Start	End	E-Value	Type
Pfam:PIP5K	1	73	3.6e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000152981
AA Change: M161K

SMART Domains

Protein: ENSMUSP00000119075
Gene: ENSMUSG00000026737
AA Change: M161K

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

Meta Mutation Damage Score

0.9657

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	C	14: 66,875,385 (GRCm39)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Chdh	T	A	14: 29,753,489 (GRCm39)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ctse	T	G	1: 131,600,185 (GRCm39)	Y311*	probably null	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,405,541 (GRCm39)	E269G	probably benign	Het
Gm4884	A	G	7: 40,690,229 (GRCm39)	T42A	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Or8g18	G	A	9: 39,149,048 (GRCm39)	T224I	possibly damaging	Het
Ppp1cb	G	T	5: 32,640,704 (GRCm39)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	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
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'- GGATCAAACTCTCCAGGAGC -3'
(R):5'- GAGGCCAGCTTTGCATTTGC -3'

Sequencing Primer
(F):5'- AACTCTCCAGGAGCCAAGGG -3'
(R):5'- TGGAATGATCTTAGCACTGAGC -3'

Posted On

2014-10-02