Mutagenetix > Incidental Mutation

Incidental Mutation 'R7104:Pip4k2b'

551065

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

045196-MU

Accession Numbers

Essential gene?

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

Stock #

R7104 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97605983-97635530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97623542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 67 (M67V)

Ref Sequence

ENSEMBL: ENSMUSP00000018691 (fasta)

Gene Model

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

AlphaFold

Q80XI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018691
AA Change: M67V

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547
AA Change: M67V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl2	A	G	2: 90,627,891 (GRCm39)	E232G	probably damaging	Het
Atf7	A	G	15: 102,442,670 (GRCm39)	S480P	probably benign	Het
Cdk14	A	G	5: 5,245,325 (GRCm39)	I166T	possibly damaging	Het
Cdk5rap2	G	T	4: 70,267,393 (GRCm39)	F358L	probably benign	Het
Cplane1	T	C	15: 8,223,928 (GRCm39)	L897P	possibly damaging	Het
Cytip	A	G	2: 58,049,986 (GRCm39)	S28P	probably benign	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Dnajc10	T	A	2: 80,171,159 (GRCm39)	C480S	probably damaging	Het
Drc7	A	G	8: 95,785,711 (GRCm39)	D189G	probably damaging	Het
Engase	G	A	11: 118,372,121 (GRCm39)	V138M	probably damaging	Het
Esyt3	C	A	9: 99,220,840 (GRCm39)	R121L	probably damaging	Het
Frem1	T	G	4: 82,858,918 (GRCm39)	I1516L	probably benign	Het
Gatad2b	T	A	3: 90,258,724 (GRCm39)	I249N	probably damaging	Het
Grk6	T	C	13: 55,602,219 (GRCm39)	S383P	probably benign	Het
Hectd1	C	T	12: 51,874,134 (GRCm39)		probably null	Het
Hipk2	A	G	6: 38,795,579 (GRCm39)	L230P	probably damaging	Het
Hivep1	A	T	13: 42,310,814 (GRCm39)	Q1018L	probably benign	Het
Itgad	T	C	7: 127,797,550 (GRCm39)	F927S	probably benign	Het
Itgb3bp	A	G	4: 99,702,335 (GRCm39)	V3A	probably damaging	Het
Kcnh7	G	T	2: 62,618,031 (GRCm39)	A486D	possibly damaging	Het
Krt1c	T	C	15: 101,723,522 (GRCm39)	T318A	probably benign	Het
Ndrg1	A	G	15: 66,818,377 (GRCm39)	F77S	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nos1	T	A	5: 118,085,496 (GRCm39)	C1275S	probably damaging	Het
Or14a256	T	C	7: 86,264,900 (GRCm39)	S318G	probably null	Het
Or4a69	A	G	2: 89,313,458 (GRCm39)	V7A	possibly damaging	Het
Or5an9	T	C	19: 12,187,242 (GRCm39)	I104T	possibly damaging	Het
Or5d39	T	C	2: 87,979,716 (GRCm39)	T216A	possibly damaging	Het
Or5j3	T	A	2: 86,128,564 (GRCm39)	S135T	probably benign	Het
Or8b12b	A	T	9: 37,684,437 (GRCm39)	N161Y	possibly damaging	Het
Polq	C	A	16: 36,909,715 (GRCm39)	Y2366*	probably null	Het
Prg3	T	C	2: 84,819,097 (GRCm39)	S8P	probably benign	Het
Prl7c1	A	T	13: 27,962,952 (GRCm39)	L17*	probably null	Het
Prl8a8	A	T	13: 27,695,479 (GRCm39)	S51R	probably damaging	Het
Pttg1	G	C	11: 43,311,976 (GRCm39)	P160A	probably benign	Het
Rbfox1	C	A	16: 7,170,867 (GRCm39)	R276S	possibly damaging	Het
Rnase2a	T	G	14: 51,492,988 (GRCm39)	M126L	probably benign	Het
Secisbp2	A	T	13: 51,810,943 (GRCm39)	K202*	probably null	Het
Sema6c	A	G	3: 95,076,156 (GRCm39)	H236R	possibly damaging	Het
Septin12	A	G	16: 4,809,857 (GRCm39)	L181P	probably damaging	Het
Shc3	A	T	13: 51,585,241 (GRCm39)	V458D	possibly damaging	Het
Tecta	A	G	9: 42,278,239 (GRCm39)	Y1090H	probably benign	Het
Thsd7a	A	T	6: 12,379,429 (GRCm39)	N998K		Het
Tmem131l	A	T	3: 83,826,766 (GRCm39)	S1184T	possibly damaging	Het
Tnfsf15	T	C	4: 63,647,887 (GRCm39)	D251G	probably damaging	Het
Ttyh3	T	C	5: 140,615,540 (GRCm39)	E348G	probably benign	Het
Unc5c	T	C	3: 141,439,665 (GRCm39)	L186P	probably damaging	Het
Vmn2r37	A	T	7: 9,219,045 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	T	C	7: 42,577,959 (GRCm39)	D193G	possibly damaging	Het
Vmn2r85	A	T	10: 130,262,376 (GRCm39)	M121K	probably benign	Het
Vmn2r88	A	G	14: 51,651,253 (GRCm39)	D189G		Het
Vwc2l	C	A	1: 70,768,252 (GRCm39)	C105*	probably null	Het
Wdr72	T	A	9: 74,055,597 (GRCm39)	D275E	probably damaging	Het
Zfhx4	A	T	3: 5,467,549 (GRCm39)	D2594V	probably damaging	Het
Zfp174	C	T	16: 3,672,269 (GRCm39)	H273Y	probably benign	Het
Zwilch	A	G	9: 64,068,658 (GRCm39)	S203P	probably damaging	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
R0119:Pip4k2b	UTSW	11	97,613,762 (GRCm39)	splice site	probably benign
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
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'- TGGTCAACTCTGCCAACAAGTG -3'
(R):5'- AGGTGCCTTTGGAACCCTTC -3'

Sequencing Primer
(F):5'- CTCTGCCAACAAGTGTAGTTGTGAC -3'
(R):5'- CTCGGACAGGTGGAGGTG -3'

Posted On

2019-05-15