Mutagenetix > Incidental Mutation

Incidental Mutation 'R8560:Pi4k2a'

661022

Institutional Source

Beutler Lab

Gene Symbol

Pi4k2a

Ensembl Gene

ENSMUSG00000025178

Gene Name

phosphatidylinositol 4-kinase type 2 alpha

Synonyms

MMRRC Submission

068523-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R8560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42078909-42110526 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 42089151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 171 (Q171*)

Ref Sequence

ENSEMBL: ENSMUSP00000069284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066778]

AlphaFold

Q2TBE6

Predicted Effect

probably null
Transcript: ENSMUST00000066778
AA Change: Q171*

SMART Domains

Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178
AA Change: Q171*

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	68	98	N/A	INTRINSIC
Pfam:PI3_PI4_kinase	133	431	1.7e-67	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,958,374 (GRCm39)	V819A	unknown	Het
Ahi1	T	C	10: 20,835,814 (GRCm39)	V49A	probably benign	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc87	C	T	19: 4,891,901 (GRCm39)	R798W	probably damaging	Het
Cd163	T	C	6: 124,294,360 (GRCm39)	L506S	possibly damaging	Het
Chsy3	T	C	18: 59,543,130 (GRCm39)	V756A	possibly damaging	Het
Cisd3	G	T	11: 97,576,689 (GRCm39)	W5L	possibly damaging	Het
Coro1c	A	T	5: 113,984,249 (GRCm39)	H339Q	probably damaging	Het
Cybc1	G	T	11: 121,115,041 (GRCm39)	A154D	probably damaging	Het
D630045J12Rik	T	A	6: 38,126,649 (GRCm39)	I1454F	probably damaging	Het
Dab2ip	T	C	2: 35,603,144 (GRCm39)	S448P	probably damaging	Het
Dennd5a	A	G	7: 109,533,898 (GRCm39)		probably null	Het
Depdc1a	A	G	3: 159,219,912 (GRCm39)	K139E	probably damaging	Het
Dock6	T	C	9: 21,714,132 (GRCm39)	K1874R	probably benign	Het
Dst	A	G	1: 34,307,970 (GRCm39)	H4229R	probably damaging	Het
Esyt3	T	C	9: 99,202,375 (GRCm39)	D512G	probably damaging	Het
Fastkd5	T	A	2: 130,457,865 (GRCm39)	I242L	probably benign	Het
Foxo3	G	A	10: 42,151,278 (GRCm39)	T51M	possibly damaging	Het
Gcfc2	T	C	6: 81,900,863 (GRCm39)	V59A	possibly damaging	Het
Gm14410	C	A	2: 176,885,445 (GRCm39)	C273F	probably damaging	Het
Gucy1b1	G	T	3: 81,942,685 (GRCm39)	P486T	probably damaging	Het
Hydin	A	G	8: 111,265,106 (GRCm39)	N2763S	probably benign	Het
Ifna2	C	A	4: 88,601,502 (GRCm39)	W172L	possibly damaging	Het
Igkv6-29	T	C	6: 70,115,651 (GRCm39)	N48D	probably benign	Het
Il17ra	C	A	6: 120,459,226 (GRCm39)	D792E	possibly damaging	Het
Kcnh5	G	T	12: 75,023,379 (GRCm39)	A563E	probably damaging	Het
Klra4	C	A	6: 130,042,235 (GRCm39)	V11L	probably benign	Het
Krt13	T	C	11: 100,009,676 (GRCm39)	E368G	possibly damaging	Het
Lrpprc	T	A	17: 85,047,495 (GRCm39)		probably benign	Het
Mal2	T	C	15: 54,461,826 (GRCm39)	I107T	probably benign	Het
Mc4r	T	C	18: 66,992,166 (GRCm39)	I316V	possibly damaging	Het
Mdn1	T	A	4: 32,743,830 (GRCm39)	V4022E	probably benign	Het
Med12l	A	G	3: 58,945,026 (GRCm39)	N84D	probably damaging	Het
Mx1	T	G	16: 97,253,987 (GRCm39)	T298P	probably damaging	Het
Myh7	T	C	14: 55,213,405 (GRCm39)	E1367G	possibly damaging	Het
Myh7b	A	G	2: 155,465,124 (GRCm39)	E660G	possibly damaging	Het
Nbeal1	T	A	1: 60,274,316 (GRCm39)	N242K	probably benign	Het
Nsun5	A	G	5: 135,404,743 (GRCm39)	T435A	probably benign	Het
Or14j4	C	T	17: 37,920,949 (GRCm39)	S231N	possibly damaging	Het
Or4q3	T	A	14: 50,583,794 (GRCm39)	D4V	probably benign	Het
Or5b109	T	C	19: 13,211,656 (GRCm39)	L14P	possibly damaging	Het
Pcdhb17	C	T	18: 37,619,206 (GRCm39)	T332M	possibly damaging	Het
Plb1	T	C	5: 32,460,023 (GRCm39)	V421A	possibly damaging	Het
Prkag2	TTTTTTTTTTTTA	T	5: 25,071,063 (GRCm39)		probably benign	Het
Prlhr	A	G	19: 60,456,635 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,382,600 (GRCm39)	C435*	probably null	Het
Rnf183	T	A	4: 62,346,735 (GRCm39)	N21I	probably damaging	Het
Rnf41	T	A	10: 128,274,222 (GRCm39)	C291*	probably null	Het
Shd	T	C	17: 56,278,616 (GRCm39)	S60P	probably benign	Het
Slc16a5	A	G	11: 115,360,545 (GRCm39)	T243A	probably benign	Het
Slc33a1	A	T	3: 63,850,773 (GRCm39)	I517N	possibly damaging	Het
Slc4a1	A	C	11: 102,244,083 (GRCm39)	M682R	possibly damaging	Het
Sphk2	A	T	7: 45,361,514 (GRCm39)	N245K	probably damaging	Het
Stx7	T	C	10: 24,057,454 (GRCm39)	I160T	possibly damaging	Het
Thbs4	T	C	13: 92,891,608 (GRCm39)	I836V	probably damaging	Het
Tmc5	A	T	7: 118,268,514 (GRCm39)	N861Y	probably damaging	Het
Trappc5	T	A	8: 3,729,303 (GRCm39)	W94R	probably damaging	Het
Trmt44	T	C	5: 35,715,295 (GRCm39)	I673V	probably benign	Het
Ttn	T	C	2: 76,571,615 (GRCm39)	Y26426C	probably damaging	Het
Wdr81	C	T	11: 75,336,260 (GRCm39)	G591R		Het
Zfp236	G	A	18: 82,664,340 (GRCm39)	R482W	probably damaging	Het
Zfp51	T	A	17: 21,685,635 (GRCm39)	M750K	probably benign	Het

Other mutations in Pi4k2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Pi4k2a	APN	19	42,093,418 (GRCm39)	missense	probably damaging	1.00
IGL02959:Pi4k2a	APN	19	42,101,510 (GRCm39)	missense	probably benign	0.42
R1570:Pi4k2a	UTSW	19	42,089,083 (GRCm39)	missense	probably benign	0.33
R1992:Pi4k2a	UTSW	19	42,104,377 (GRCm39)	missense	probably damaging	1.00
R2113:Pi4k2a	UTSW	19	42,103,510 (GRCm39)	missense	possibly damaging	0.78
R2358:Pi4k2a	UTSW	19	42,079,131 (GRCm39)	missense	probably damaging	0.99
R2410:Pi4k2a	UTSW	19	42,093,316 (GRCm39)	missense	possibly damaging	0.55
R3547:Pi4k2a	UTSW	19	42,078,987 (GRCm39)	missense	probably benign	0.10
R3708:Pi4k2a	UTSW	19	42,079,370 (GRCm39)	nonsense	probably null
R3712:Pi4k2a	UTSW	19	42,079,131 (GRCm39)	missense	probably damaging	0.99
R3954:Pi4k2a	UTSW	19	42,104,338 (GRCm39)	missense	probably damaging	0.98
R4654:Pi4k2a	UTSW	19	42,101,544 (GRCm39)	critical splice donor site	probably null
R5077:Pi4k2a	UTSW	19	42,108,275 (GRCm39)	splice site	probably null
R5386:Pi4k2a	UTSW	19	42,078,954 (GRCm39)	missense	probably damaging	0.99
R5846:Pi4k2a	UTSW	19	42,103,477 (GRCm39)	missense	probably benign	0.01
R5867:Pi4k2a	UTSW	19	42,093,924 (GRCm39)	critical splice donor site	probably null
R5878:Pi4k2a	UTSW	19	42,089,080 (GRCm39)	missense	probably benign	0.02
R6502:Pi4k2a	UTSW	19	42,079,371 (GRCm39)	missense	probably benign	0.04
R7042:Pi4k2a	UTSW	19	42,093,337 (GRCm39)	missense	probably benign	0.18
R7269:Pi4k2a	UTSW	19	42,079,125 (GRCm39)	missense	probably damaging	1.00
R7819:Pi4k2a	UTSW	19	42,079,013 (GRCm39)	missense	probably benign
R8249:Pi4k2a	UTSW	19	42,103,501 (GRCm39)	missense	probably benign	0.00
R9038:Pi4k2a	UTSW	19	42,089,235 (GRCm39)	missense	probably damaging	1.00
Z1177:Pi4k2a	UTSW	19	42,093,364 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTAGCTCTTTCTAGCAGCCTG -3'
(R):5'- TAACAGAACTCAGGGACATGGC -3'

Sequencing Primer
(F):5'- AGCCTGTCTCCACTGAGTTAAGG -3'
(R):5'- CTCAGGGACATGGCAAGCCTAG -3'

Posted On

2021-03-08