Mutagenetix > Incidental Mutation

Incidental Mutation 'R5335:Pi4k2b'

423466

Institutional Source

Beutler Lab

Gene Symbol

Pi4k2b

Ensembl Gene

ENSMUSG00000029186

Gene Name

phosphatidylinositol 4-kinase type 2 beta

Synonyms

2610042N09Rik, 4933409G22Rik

MMRRC Submission

042916-MU

Accession Numbers

Essential gene?

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

Stock #

R5335 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

52898916-52926682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52899098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 13 (D13G)

Ref Sequence

ENSEMBL: ENSMUSP00000142802 (fasta)

Gene Model

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

AlphaFold

Q8CBQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000031081
AA Change: D13G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: D13G

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
AA Change: D13G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186
AA Change: D13G

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

possibly damaging
Transcript: ENSMUST00000131526
AA Change: D13G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142802
Gene: ENSMUSG00000029186
AA Change: D13G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (62/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	A	G	19: 4,548,292 (GRCm39)	W86R	probably damaging	Het
Ankrd6	T	C	4: 32,818,651 (GRCm39)	E225G	probably damaging	Het
Atxn10	A	G	15: 85,220,785 (GRCm39)		probably null	Het
Bcas2	A	G	3: 103,082,951 (GRCm39)	I146V	probably damaging	Het
C2cd6	T	A	1: 59,043,393 (GRCm39)		noncoding transcript	Het
Cachd1	G	A	4: 100,825,282 (GRCm39)	V579I	possibly damaging	Het
Col11a1	A	G	3: 113,888,889 (GRCm39)	T311A	unknown	Het
Cyp2c50	A	T	19: 40,079,060 (GRCm39)	L134F	probably benign	Het
Cyp2j11	T	C	4: 96,195,589 (GRCm39)	H369R	probably damaging	Het
Dis3	A	G	14: 99,335,089 (GRCm39)	V171A	possibly damaging	Het
Dnah12	A	G	14: 26,601,695 (GRCm39)	N3718D	probably damaging	Het
Dnah17	T	C	11: 118,003,340 (GRCm39)	I541V	probably damaging	Het
Eif3i	T	C	4: 129,488,979 (GRCm39)	D86G	probably benign	Het
Epc1	C	T	18: 6,490,689 (GRCm39)		probably benign	Het
Epc2	A	G	2: 49,403,242 (GRCm39)	N110S	probably benign	Het
Epha8	A	T	4: 136,659,246 (GRCm39)	L831Q	probably damaging	Het
Esd	G	T	14: 74,979,553 (GRCm39)	R119I	probably damaging	Het
F2	T	C	2: 91,465,277 (GRCm39)	K96E	possibly damaging	Het
Fcgbp	T	C	7: 27,789,159 (GRCm39)	V575A	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gemin6	T	C	17: 80,533,184 (GRCm39)	V39A	probably damaging	Het
Glmp	G	T	3: 88,233,962 (GRCm39)		probably benign	Het
Gm10306	C	A	4: 94,445,044 (GRCm39)		probably benign	Het
Gm4846	A	T	1: 166,325,022 (GRCm39)	L23*	probably null	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
Ifi203	T	C	1: 173,754,485 (GRCm39)	T749A	possibly damaging	Het
Kcnip2	C	A	19: 45,782,685 (GRCm39)	A133S	probably benign	Het
Limch1	A	T	5: 67,039,300 (GRCm39)	I76F	probably damaging	Het
Mcph1	T	A	8: 18,739,077 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtcl3	A	T	10: 29,023,102 (GRCm39)	I150L	probably benign	Het
Myh7	A	G	14: 55,224,020 (GRCm39)		probably benign	Het
Odad2	A	T	18: 7,294,566 (GRCm39)	Y16N	probably benign	Het
Opcml	A	G	9: 28,586,621 (GRCm39)	D113G	possibly damaging	Het
Or1j17	A	T	2: 36,578,106 (GRCm39)	I31F	probably benign	Het
Or1x2	A	C	11: 50,918,161 (GRCm39)	N111H	probably benign	Het
Or2ag18	A	C	7: 106,404,941 (GRCm39)	S243A	probably damaging	Het
Or2b6	A	C	13: 21,822,949 (GRCm39)	V248G	probably damaging	Het
Or51f1d	A	C	7: 102,700,742 (GRCm39)	D79A	probably damaging	Het
Or52s19	A	C	7: 103,007,729 (GRCm39)	L224R	probably damaging	Het
Or5j1	T	G	2: 86,879,509 (GRCm39)	K24Q	probably damaging	Het
Pcdhb1	G	T	18: 37,400,308 (GRCm39)	C753F	probably benign	Het
Phip	T	C	9: 82,782,809 (GRCm39)	S879G	possibly damaging	Het
Ptpn18	A	T	1: 34,502,259 (GRCm39)	I68F	probably damaging	Het
Rnf168	C	T	16: 32,117,402 (GRCm39)	T321I	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Srgap1	C	T	10: 121,621,282 (GRCm39)		probably benign	Het
Sry	A	T	Y: 2,663,647 (GRCm39)	H4Q	probably benign	Het
Taf2	G	A	15: 54,909,136 (GRCm39)	A703V	probably benign	Het
Taf5l	A	G	8: 124,730,390 (GRCm39)	F65L	probably damaging	Het
Tcp10b	T	C	17: 13,281,954 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,814 (GRCm39)	I273N	probably damaging	Het
Tspan4	A	G	7: 141,069,528 (GRCm39)	T43A	probably damaging	Het
Ube2r2	T	C	4: 41,190,846 (GRCm39)		probably benign	Het
Urgcp	T	C	11: 5,667,754 (GRCm39)	T195A	possibly damaging	Het
Vmn1r197	T	C	13: 22,512,361 (GRCm39)	I94T	probably damaging	Het
Vmn2r15	A	T	5: 109,434,673 (GRCm39)	I677K	probably damaging	Het
Zfp853	T	A	5: 143,274,318 (GRCm39)	H434L	unknown	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
R2048:Pi4k2b	UTSW	5	52,905,773 (GRCm39)	missense	probably benign	0.30
R2058:Pi4k2b	UTSW	5	52,908,022 (GRCm39)	missense	probably benign	0.02
R4909:Pi4k2b	UTSW	5	52,911,971 (GRCm39)	unclassified	probably benign
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'- TTGAGACACAGGTGGCCATC -3'
(R):5'- CAGAGTGAGATTTTAGTGGTCCCC -3'

Sequencing Primer
(F):5'- ACAGGTGGCCATCAATGC -3'
(R):5'- TTCTCCTGCCACAGAGGGAAAG -3'

Posted On

2016-08-04