Mutagenetix > Incidental Mutation

Incidental Mutation 'R9758:Pi4k2b'

732843

Institutional Source

Beutler Lab

Gene Symbol

Pi4k2b

Ensembl Gene

ENSMUSG00000029186

Gene Name

phosphatidylinositol 4-kinase type 2 beta

Synonyms

2610042N09Rik, 4933409G22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R9758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52898916-52926682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52918331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 386 (D386E)

Ref Sequence

ENSEMBL: ENSMUSP00000031081 (fasta)

Gene Model

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

AlphaFold

Q8CBQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000031081
AA Change: D386E

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: D386E

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: D363E

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186
AA Change: D363E

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,879,799 (GRCm39)	Y220C	probably damaging	Het
Actmap	T	C	7: 26,896,655 (GRCm39)	S73P	possibly damaging	Het
Bmper	G	A	9: 23,286,902 (GRCm39)	G276D	possibly damaging	Het
C2cd5	A	T	6: 142,984,613 (GRCm39)	M549K	probably benign	Het
Caprin1	A	G	2: 103,606,283 (GRCm39)	V319A	possibly damaging	Het
Cchcr1	G	A	17: 35,839,285 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,265,783 (GRCm39)	V1383E	possibly damaging	Het
Cep350	T	C	1: 155,770,433 (GRCm39)	E1819G	probably damaging	Het
Ces4a	A	G	8: 105,869,054 (GRCm39)	E163G	possibly damaging	Het
Chrnd	C	T	1: 87,118,792 (GRCm39)	R50*	probably null	Het
Cntn3	A	G	6: 102,183,511 (GRCm39)	S715P	probably damaging	Het
Creb1	A	T	1: 64,598,909 (GRCm39)	R95S	probably benign	Het
Ctdp1	T	C	18: 80,492,710 (GRCm39)	Y595C	probably damaging	Het
Cts7	C	T	13: 61,504,223 (GRCm39)	E86K	probably damaging	Het
Dazap1	A	G	10: 80,113,440 (GRCm39)	N113S	unknown	Het
Dhdds	T	C	4: 133,727,706 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,554,938 (GRCm39)	S998P	probably damaging	Het
Dnah1	T	C	14: 30,985,395 (GRCm39)	D3832G	probably damaging	Het
Drd1	A	G	13: 54,207,182 (GRCm39)	L344P	probably damaging	Het
Fam135b	G	A	15: 71,324,199 (GRCm39)	T1256I	probably benign	Het
Fam234a	A	T	17: 26,432,627 (GRCm39)	D507E	probably benign	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Foxd4	A	T	19: 24,877,670 (GRCm39)	W177R	probably damaging	Het
Fyb2	A	G	4: 104,802,961 (GRCm39)	S288G	probably benign	Het
Gadl1	A	G	9: 115,789,519 (GRCm39)	H275R	probably benign	Het
Gbp5	A	G	3: 142,206,366 (GRCm39)	T17A	probably benign	Het
Gm1110	A	T	9: 26,800,894 (GRCm39)	Y433*	probably null	Het
Gm6408	C	A	5: 146,420,628 (GRCm39)	D169E	probably benign	Het
Gramd2b	T	A	18: 56,611,972 (GRCm39)	V145E	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hcn1	GCA	GCAACA	13: 118,112,305 (GRCm39)		probably benign	Het
Hif1an	G	A	19: 44,558,378 (GRCm39)	V293M	probably damaging	Het
Hyal3	A	G	9: 107,462,347 (GRCm39)	D127G	probably damaging	Het
Ighg1	T	A	12: 113,293,252 (GRCm39)	D146V	possibly damaging	Het
Iws1	T	A	18: 32,216,347 (GRCm39)	D362E	probably damaging	Het
Kif21b	G	A	1: 136,080,961 (GRCm39)	E601K	probably damaging	Het
Kndc1	C	A	7: 139,500,620 (GRCm39)	P662T	possibly damaging	Het
Krtap13-1	C	T	16: 88,526,229 (GRCm39)	T151I	probably benign	Het
Ndufa10	A	T	1: 92,379,752 (GRCm39)	I327N	probably benign	Het
Or10ag53	A	G	2: 87,082,439 (GRCm39)	I53V	possibly damaging	Het
Or10z1	A	G	1: 174,077,902 (GRCm39)	L197P	probably damaging	Het
Pcdhb14	T	C	18: 37,582,040 (GRCm39)	V382A	probably benign	Het
Pex1	A	T	5: 3,685,876 (GRCm39)	I1206F	probably damaging	Het
Pik3c2a	A	G	7: 115,945,427 (GRCm39)	F1460L	probably damaging	Het
Plcb2	A	C	2: 118,545,921 (GRCm39)	M588R	probably damaging	Het
Prl7d1	C	A	13: 27,893,260 (GRCm39)	R216L	possibly damaging	Het
Psg28	G	T	7: 18,156,887 (GRCm39)	Y449*	probably null	Het
Psg28	T	A	7: 18,164,602 (GRCm39)	T37S	probably benign	Het
Psmd9	G	T	5: 123,372,745 (GRCm39)	R76M	probably damaging	Het
Rfc1	T	C	5: 65,459,391 (GRCm39)	D189G	probably benign	Het
Rnf207	A	G	4: 152,397,666 (GRCm39)	S363P	probably benign	Het
Sco1	T	A	11: 66,949,250 (GRCm39)	D239E	probably damaging	Het
Sec24d	C	T	3: 123,136,803 (GRCm39)	T512M	probably damaging	Het
Shkbp1	T	C	7: 27,046,442 (GRCm39)	K441E	probably benign	Het
Slc44a5	A	T	3: 153,959,322 (GRCm39)	I338F	probably damaging	Het
Slc4a3	A	T	1: 75,534,319 (GRCm39)	I1161F	probably damaging	Het
Spmip11	T	A	15: 98,483,264 (GRCm39)	L65I	probably damaging	Het
Tnfsf9	T	A	17: 57,414,355 (GRCm39)	L261M	probably damaging	Het
Trim55	C	T	3: 19,699,498 (GRCm39)	R77C	probably damaging	Het
Vmn2r27	A	G	6: 124,168,637 (GRCm39)	I831T	possibly damaging	Het
Vwa3b	A	G	1: 37,081,438 (GRCm39)	I60V	probably benign	Het
Vwf	A	G	6: 125,603,230 (GRCm39)	N860S		Het
Zfp54	T	A	17: 21,654,149 (GRCm39)	N214K	probably benign	Het
Zfp707	T	C	15: 75,845,418 (GRCm39)	I94T		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
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
Z1088:Pi4k2b	UTSW	5	52,918,273 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TATGTGTGAGGCTCAACCAG -3'
(R):5'- ATTTGGGCACTGCATGAGGG -3'

Sequencing Primer
(F):5'- AGCTGCTACTCACTACTCATTAG -3'
(R):5'- TATAGTCCTATTGGCCACTCGAAACG -3'

Posted On

2022-11-14