Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Pip4k2b'

20994

Institutional Source

Beutler Lab

Gene Symbol

Pip4k2b

Ensembl Gene

ENSMUSG00000018547

Gene Name

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

Synonyms

c11, PI5P4Kbeta, Pip5k2b

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R0119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97605983-97635530 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 97613762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018691]

AlphaFold

Q80XI4

Predicted Effect

probably benign
Transcript: ENSMUST00000018691

SMART Domains

Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547

Domain	Start	End	E-Value	Type
PIPKc	67	416	4.49e-156	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144012

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are smaller than normal with less body fat and an increased sensitivity to insulin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adamts18	A	G	8: 114,501,585 (GRCm39)	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,559,449 (GRCm39)		probably benign	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Cap1	A	T	4: 122,761,492 (GRCm39)	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Caskin2	A	G	11: 115,693,253 (GRCm39)		probably benign	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Cd96	T	C	16: 45,858,942 (GRCm39)		probably benign	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1c	A	T	8: 93,833,345 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,834,238 (GRCm39)	L351M	probably benign	Het
Cnih3	T	A	1: 181,282,309 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Cry1	A	G	10: 84,969,104 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Elmo3	T	C	8: 106,036,400 (GRCm39)	L668S	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Gm839	A	T	6: 89,189,362 (GRCm39)		noncoding transcript	Het
Gng5	T	A	3: 146,209,048 (GRCm39)	C39S	probably damaging	Het
Gpr55	C	T	1: 85,869,146 (GRCm39)	W145*	probably null	Het
Hdlbp	A	C	1: 93,349,059 (GRCm39)		probably benign	Het
Man2a2	G	T	7: 80,017,153 (GRCm39)	N305K	probably damaging	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mier3	T	C	13: 111,851,572 (GRCm39)	V490A	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Mug2	T	A	6: 122,013,022 (GRCm39)	H311Q	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,360,252 (GRCm39)		probably null	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Pcdh15	T	C	10: 74,006,407 (GRCm39)	F95S	probably damaging	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Per3	A	G	4: 151,109,005 (GRCm39)		probably benign	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Rere	T	G	4: 150,699,779 (GRCm39)		probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 133,855,347 (GRCm39)	I33N	probably damaging	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,223,605 (GRCm39)	Q116K	probably damaging	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,921 (GRCm39)	V477A	possibly damaging	Het
Trim7	G	T	11: 48,740,539 (GRCm39)	R212L	probably damaging	Het
Trpm6	T	A	19: 18,809,957 (GRCm39)	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,275,723 (GRCm39)	E361G	probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Pip4k2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Pip4k2b	APN	11	97,635,331 (GRCm39)	missense	probably damaging	1.00
IGL01567:Pip4k2b	APN	11	97,620,387 (GRCm39)	missense	probably damaging	0.99
IGL01568:Pip4k2b	APN	11	97,620,378 (GRCm39)	critical splice donor site	probably null
IGL03004:Pip4k2b	APN	11	97,615,300 (GRCm39)	missense	probably damaging	1.00
bigun	UTSW	11	97,613,762 (GRCm39)	splice site	probably benign
yuge	UTSW	11	97,613,260 (GRCm39)	missense	probably benign	0.04
R0657:Pip4k2b	UTSW	11	97,613,762 (GRCm39)	splice site	probably benign
R1223:Pip4k2b	UTSW	11	97,609,720 (GRCm39)	missense	probably damaging	1.00
R1252:Pip4k2b	UTSW	11	97,635,420 (GRCm39)	missense	probably benign	0.45
R2914:Pip4k2b	UTSW	11	97,613,260 (GRCm39)	missense	probably benign	0.04
R3702:Pip4k2b	UTSW	11	97,620,374 (GRCm39)	splice site	probably benign
R4173:Pip4k2b	UTSW	11	97,613,201 (GRCm39)	missense	probably benign	0.06
R4998:Pip4k2b	UTSW	11	97,613,261 (GRCm39)	missense	possibly damaging	0.49
R5084:Pip4k2b	UTSW	11	97,610,569 (GRCm39)	missense	probably damaging	1.00
R5128:Pip4k2b	UTSW	11	97,609,702 (GRCm39)	missense	probably benign	0.01
R6590:Pip4k2b	UTSW	11	97,620,393 (GRCm39)	missense	probably damaging	1.00
R6690:Pip4k2b	UTSW	11	97,620,393 (GRCm39)	missense	probably damaging	1.00
R7104:Pip4k2b	UTSW	11	97,623,542 (GRCm39)	missense	possibly damaging	0.83
R7676:Pip4k2b	UTSW	11	97,611,188 (GRCm39)	missense	probably benign	0.02
R9161:Pip4k2b	UTSW	11	97,615,245 (GRCm39)	missense	possibly damaging	0.87
R9277:Pip4k2b	UTSW	11	97,613,272 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGTACTGGACACTGAGTAACCC -3'
(R):5'- AGGAAAACACCTGCTGTCAGCC -3'

Sequencing Primer
(F):5'- CTTAGGGAACTACTGACTGGCTC -3'
(R):5'- AGCCTCTGGCCCCTATG -3'

Posted On

2013-04-11