Mutagenetix > Incidental Mutation

Incidental Mutation 'R8793:Pip4k2c'

671060

Institutional Source

Beutler Lab

Gene Symbol

Pip4k2c

Ensembl Gene

ENSMUSG00000025417

Gene Name

phosphatidylinositol-5-phosphate 4-kinase, type II, gamma

Synonyms

Pip5k2c

MMRRC Submission

068610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8793 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127032936-127047454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127042530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 108 (F108L)

Ref Sequence

ENSEMBL: ENSMUSP00000013970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013970]

AlphaFold

Q91XU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000013970
AA Change: F108L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417
AA Change: F108L

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
low complexity region	27	41	N/A	INTRINSIC
PIPKc	72	420	2.3e-172	SMART

Coding Region Coverage

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

Validation Efficiency

100% (38/38)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele develop enhanced immune responses associated with T cell hyperactivation, increased T cell proliferation, increased immune infiltrates in various tissues, increased plasma cytokine levels, and increased mTORC1 signaling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,804 (GRCm39)	D158A	probably damaging	Het
Acot7	G	A	4: 152,284,380 (GRCm39)	V17I	probably benign	Het
Akap13	A	G	7: 75,375,076 (GRCm39)	T184A	probably benign	Het
Ankrd31	T	A	13: 96,968,221 (GRCm39)	D619E	probably damaging	Het
Arap3	A	G	18: 38,107,492 (GRCm39)	F1342L	probably benign	Het
Arfgef1	G	C	1: 10,212,832 (GRCm39)	N1696K	possibly damaging	Het
Asap2	A	G	12: 21,218,212 (GRCm39)	D45G	probably damaging	Het
Atp8b4	T	A	2: 126,231,254 (GRCm39)	M456L	probably benign	Het
Bag5	A	T	12: 111,677,355 (GRCm39)	I156N	possibly damaging	Het
Banp	T	A	8: 122,750,743 (GRCm39)	V478E	probably benign	Het
BC024063	A	T	10: 81,945,352 (GRCm39)	H324L	probably benign	Het
Bms1	T	A	6: 118,360,784 (GRCm39)	K1228M	probably damaging	Het
Btaf1	A	G	19: 36,958,429 (GRCm39)	K649E	probably benign	Het
Cpox	C	A	16: 58,493,708 (GRCm39)	P226Q	probably damaging	Het
Cux1	A	G	5: 136,594,539 (GRCm39)	S5P	unknown	Het
Dock2	G	T	11: 34,451,215 (GRCm39)	Q837K	probably benign	Het
Fam171a1	T	C	2: 3,187,535 (GRCm39)	I134T	probably damaging	Het
Gm2832	A	G	14: 41,003,726 (GRCm39)	T186A		Het
Gm8246	T	C	14: 16,984,554 (GRCm39)	E93G	probably damaging	Het
Grid2ip	C	T	5: 143,363,396 (GRCm39)	T463M	probably damaging	Het
Mael	G	A	1: 166,029,257 (GRCm39)	R389C	probably benign	Het
Myo9a	C	A	9: 59,791,850 (GRCm39)	Q1818K	probably benign	Het
Nwd1	A	G	8: 73,419,704 (GRCm39)	D963G	probably benign	Het
Or13c3	A	G	4: 52,856,490 (GRCm39)	F8L	probably benign	Het
Or2g1	T	C	17: 38,107,255 (GRCm39)	S307P	probably benign	Het
Pappa2	A	T	1: 158,678,731 (GRCm39)	V895E	probably damaging	Het
Pcna	T	C	2: 132,093,193 (GRCm39)	T185A	probably benign	Het
Pole	T	A	5: 110,445,614 (GRCm39)	S497T	probably damaging	Het
Potefam3b	G	A	8: 21,159,053 (GRCm39)	V136I	probably benign	Het
Ppp1r12c	A	G	7: 4,485,887 (GRCm39)	V653A	probably benign	Het
Pramel27	A	G	4: 143,577,627 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,764,284 (GRCm39)	V3072E	probably damaging	Het
Sh3bgr	G	A	16: 96,025,792 (GRCm39)		probably null	Het
Slc27a5	A	C	7: 12,723,296 (GRCm39)	L550R	probably benign	Het
Strip2	C	T	6: 29,956,815 (GRCm39)	P815S	probably benign	Het
Tars3	G	T	7: 65,294,673 (GRCm39)		probably benign	Het
Tle5	T	C	10: 81,397,152 (GRCm39)		probably null	Het
Tmem237	G	T	1: 59,146,613 (GRCm39)	L337M	probably damaging	Het
Ttn	T	C	2: 76,555,506 (GRCm39)	M30500V	probably benign	Het
Ube2u	T	C	4: 100,336,416 (GRCm39)	F13S	probably damaging	Het
Ugcg	A	C	4: 59,207,794 (GRCm39)	K44N	probably benign	Het
Vmn2r39	A	T	7: 9,028,149 (GRCm39)	H407Q	probably damaging	Het

Other mutations in Pip4k2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Pip4k2c	APN	10	127,035,498 (GRCm39)	missense	probably benign	0.24
R0281:Pip4k2c	UTSW	10	127,041,690 (GRCm39)	splice site	probably null
R0433:Pip4k2c	UTSW	10	127,044,815 (GRCm39)	missense	probably benign	0.33
R0834:Pip4k2c	UTSW	10	127,036,704 (GRCm39)	splice site	probably benign
R1170:Pip4k2c	UTSW	10	127,047,262 (GRCm39)	missense	unknown
R1851:Pip4k2c	UTSW	10	127,036,744 (GRCm39)	missense	probably damaging	1.00
R2082:Pip4k2c	UTSW	10	127,034,958 (GRCm39)	missense	probably damaging	0.97
R4750:Pip4k2c	UTSW	10	127,047,286 (GRCm39)	missense	unknown
R4915:Pip4k2c	UTSW	10	127,035,196 (GRCm39)	missense	possibly damaging	0.79
R4916:Pip4k2c	UTSW	10	127,035,196 (GRCm39)	missense	possibly damaging	0.79
R4918:Pip4k2c	UTSW	10	127,035,196 (GRCm39)	missense	possibly damaging	0.79
R4985:Pip4k2c	UTSW	10	127,035,244 (GRCm39)	missense	probably benign	0.05
R6019:Pip4k2c	UTSW	10	127,034,943 (GRCm39)	missense	probably damaging	1.00
R7525:Pip4k2c	UTSW	10	127,044,773 (GRCm39)	missense	probably damaging	0.99
R7586:Pip4k2c	UTSW	10	127,034,955 (GRCm39)	missense	probably damaging	1.00
R8829:Pip4k2c	UTSW	10	127,037,037 (GRCm39)	missense	probably damaging	0.96
R8832:Pip4k2c	UTSW	10	127,037,037 (GRCm39)	missense	probably damaging	0.96
R8942:Pip4k2c	UTSW	10	127,036,084 (GRCm39)	missense	probably benign	0.00
R9189:Pip4k2c	UTSW	10	127,035,246 (GRCm39)	missense	possibly damaging	0.78
R9610:Pip4k2c	UTSW	10	127,036,069 (GRCm39)	missense	probably damaging	1.00
R9611:Pip4k2c	UTSW	10	127,036,069 (GRCm39)	missense	probably damaging	1.00
R9648:Pip4k2c	UTSW	10	127,041,569 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCAAAGATGCTCTGGGCC -3'
(R):5'- ATTTGAGCACACTCCACCCG -3'

Sequencing Primer
(F):5'- TCTGGGCCACACTTGTCACAG -3'
(R):5'- AAATGCAATAAGTACTTCACAGGG -3'

Posted On

2021-04-30