Mutagenetix > Incidental Mutation

Incidental Mutation 'R2048:Pi4k2b'

222191

Institutional Source

Beutler Lab

Gene Symbol

Pi4k2b

Ensembl Gene

ENSMUSG00000029186

Gene Name

phosphatidylinositol 4-kinase type 2 beta

Synonyms

2610042N09Rik, 4933409G22Rik

MMRRC Submission

040055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R2048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52898916-52926682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52905773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 105 (I105L)

Ref Sequence

ENSEMBL: ENSMUSP00000031081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031081] [ENSMUST00000031082] [ENSMUST00000131526]

AlphaFold

Q8CBQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000031081
AA Change: I105L

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: I105L

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
Pfam:PI3_PI4_kinase	117	417	3.9e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031082

SMART Domains

Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
Pfam:PI3_PI4_kinase	85	401	7.4e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131526

SMART Domains

Protein: ENSMUSP00000142802
Gene: ENSMUSG00000029186

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC

Meta Mutation Damage Score

0.7219

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,647,357 (GRCm39)	D19G	possibly damaging	Het
Adhfe1	A	G	1: 9,633,778 (GRCm39)	K342R	probably benign	Het
Adk	A	G	14: 21,368,244 (GRCm39)	N223S	probably damaging	Het
Aff4	A	G	11: 53,289,212 (GRCm39)	S454G	probably benign	Het
Ahnak	T	A	19: 8,984,420 (GRCm39)	N1901K	probably damaging	Het
Camsap1	T	C	2: 25,819,755 (GRCm39)	T1578A	probably benign	Het
Ccdc63	A	C	5: 122,268,350 (GRCm39)		probably null	Het
Ceacam1	G	T	7: 25,176,113 (GRCm39)	S27Y	probably benign	Het
Cit	T	C	5: 116,024,872 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,414,825 (GRCm39)		probably benign	Het
Cyp2d26	A	G	15: 82,676,928 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,908,237 (GRCm39)	V204E	probably damaging	Het
Cyp51	G	A	5: 4,136,636 (GRCm39)		probably benign	Het
Dipk1a	T	C	5: 108,057,886 (GRCm39)	D179G	probably damaging	Het
Epb41l4b	T	G	4: 57,142,866 (GRCm39)	E96D	probably benign	Het
Epg5	A	G	18: 78,067,202 (GRCm39)	E2221G	probably damaging	Het
Fbxo21	T	A	5: 118,146,169 (GRCm39)	N597K	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fsip1	C	A	2: 118,072,197 (GRCm39)	E195D	probably damaging	Het
Gm10152	T	C	7: 144,317,049 (GRCm39)	F35L	unknown	Het
Gtpbp6	A	C	5: 110,254,931 (GRCm39)	V87G	probably damaging	Het
Hal	A	G	10: 93,327,002 (GRCm39)	T176A	probably damaging	Het
Il12rb2	G	T	6: 67,337,529 (GRCm39)	N117K	probably benign	Het
Kalrn	A	G	16: 34,072,680 (GRCm39)	V734A	probably benign	Het
Klf7	A	G	1: 64,117,913 (GRCm39)	V228A	possibly damaging	Het
Kng1	A	G	16: 22,877,354 (GRCm39)	Y54C	probably damaging	Het
Lpcat2	T	G	8: 93,596,471 (GRCm39)	N169K	possibly damaging	Het
Magohb	A	T	6: 131,266,385 (GRCm39)	S40R	probably damaging	Het
Mgam	A	G	6: 40,633,363 (GRCm39)	D186G	possibly damaging	Het
Mycbp2	A	G	14: 103,469,960 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,975,928 (GRCm39)	D1332G	probably damaging	Het
Myh9	G	A	15: 77,655,332 (GRCm39)	T1208M	possibly damaging	Het
Ncor2	C	T	5: 125,161,996 (GRCm39)	R426H	unknown	Het
Nradd	T	C	9: 110,450,697 (GRCm39)	E160G	probably benign	Het
Or10u4	G	A	10: 129,801,861 (GRCm39)	S230L	probably damaging	Het
Or2a54	T	A	6: 43,093,312 (GRCm39)	M212K	probably benign	Het
Otog	A	T	7: 45,937,063 (GRCm39)	T1591S	probably damaging	Het
Oxsr1	A	G	9: 119,076,140 (GRCm39)	S389P	probably benign	Het
Pde3a	A	G	6: 141,434,732 (GRCm39)		probably benign	Het
Pilrb1	T	C	5: 137,853,153 (GRCm39)	R217G	possibly damaging	Het
Poteg	A	T	8: 27,946,774 (GRCm39)	I159L	probably benign	Het
Ppargc1a	A	G	5: 51,705,858 (GRCm39)	F75S	probably damaging	Het
Ptk2b	T	G	14: 66,409,954 (GRCm39)	D466A	probably benign	Het
Ptpn21	A	G	12: 98,655,785 (GRCm39)	V394A	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shisa3	G	A	5: 67,768,651 (GRCm39)	E184K	possibly damaging	Het
Slc4a2	A	G	5: 24,636,557 (GRCm39)	H283R	probably damaging	Het
Slc9a3	A	G	13: 74,311,860 (GRCm39)	S603G	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tbcd	G	T	11: 121,431,762 (GRCm39)	C470F	probably damaging	Het
Thsd1	A	G	8: 22,749,333 (GRCm39)	R674G	probably benign	Het
Zbtb11	T	A	16: 55,818,372 (GRCm39)	C599S	probably damaging	Het
Zfp541	A	G	7: 15,812,252 (GRCm39)	R302G	possibly damaging	Het

Other mutations in Pi4k2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Pi4k2b	APN	5	52,908,790 (GRCm39)	missense	probably damaging	1.00
IGL00850:Pi4k2b	APN	5	52,918,292 (GRCm39)	nonsense	probably null
IGL01580:Pi4k2b	APN	5	52,912,003 (GRCm39)	missense	possibly damaging	0.78
IGL02526:Pi4k2b	APN	5	52,925,081 (GRCm39)	missense	probably damaging	1.00
IGL02667:Pi4k2b	APN	5	52,907,947 (GRCm39)	splice site	probably benign
IGL02946:Pi4k2b	APN	5	52,910,549 (GRCm39)	missense	probably damaging	1.00
IGL03117:Pi4k2b	APN	5	52,905,765 (GRCm39)	missense	probably benign	0.44
PIT4651001:Pi4k2b	UTSW	5	52,905,812 (GRCm39)	missense	possibly damaging	0.95
R0070:Pi4k2b	UTSW	5	52,914,260 (GRCm39)	missense	probably damaging	1.00
R0422:Pi4k2b	UTSW	5	52,925,096 (GRCm39)	makesense	probably null
R1816:Pi4k2b	UTSW	5	52,908,088 (GRCm39)	missense	probably damaging	1.00
R2058:Pi4k2b	UTSW	5	52,908,022 (GRCm39)	missense	probably benign	0.02
R4909:Pi4k2b	UTSW	5	52,911,971 (GRCm39)	unclassified	probably benign
R5335:Pi4k2b	UTSW	5	52,899,098 (GRCm39)	missense	possibly damaging	0.90
R5661:Pi4k2b	UTSW	5	52,900,906 (GRCm39)	splice site	probably null
R6002:Pi4k2b	UTSW	5	52,914,247 (GRCm39)	missense	probably benign	0.02
R7259:Pi4k2b	UTSW	5	52,910,587 (GRCm39)	missense	probably damaging	1.00
R7329:Pi4k2b	UTSW	5	52,914,211 (GRCm39)	missense	probably benign
R8725:Pi4k2b	UTSW	5	52,908,031 (GRCm39)	missense	probably benign	0.01
R8727:Pi4k2b	UTSW	5	52,908,031 (GRCm39)	missense	probably benign	0.01
R9282:Pi4k2b	UTSW	5	52,900,879 (GRCm39)	missense	probably benign	0.21
R9562:Pi4k2b	UTSW	5	52,908,799 (GRCm39)	missense	probably damaging	0.97
R9758:Pi4k2b	UTSW	5	52,918,331 (GRCm39)	missense	probably benign	0.22
Z1088:Pi4k2b	UTSW	5	52,918,273 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AGCTAAGAGGATCCTAGCTGAC -3'
(R):5'- ACCACTGCCCTTTATTTTGGAAAAG -3'

Sequencing Primer
(F):5'- GAGGATCCTAGCTGACTATCTGAC -3'
(R):5'- GCCCTTTATTTTGGAAAAGAGGGAAC -3'

Posted On

2014-08-25