Mutagenetix > Incidental Mutation

Incidental Mutation 'R7586:Pip4k2c'

587152

Institutional Source

Beutler Lab

Gene Symbol

Pip4k2c

Ensembl Gene

ENSMUSG00000025417

Gene Name

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

Synonyms

Pip5k2c

MMRRC Submission

045668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7586 (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 127034955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 415 (F415S)

Ref Sequence

ENSEMBL: ENSMUSP00000013970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013970] [ENSMUST00000038217] [ENSMUST00000116229] [ENSMUST00000130855] [ENSMUST00000137151] [ENSMUST00000144322]

AlphaFold

Q91XU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000013970
AA Change: F415S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417
AA Change: F415S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038217

SMART Domains

Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	64	72	N/A	INTRINSIC
coiled coil region	73	104	N/A	INTRINSIC
low complexity region	119	154	N/A	INTRINSIC
RING	164	202	1.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116229

SMART Domains

Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	64	72	N/A	INTRINSIC
coiled coil region	73	104	N/A	INTRINSIC
low complexity region	119	154	N/A	INTRINSIC
RING	164	202	1.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130855

SMART Domains

Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	67	75	N/A	INTRINSIC
coiled coil region	76	107	N/A	INTRINSIC
low complexity region	122	157	N/A	INTRINSIC
RING	167	205	1.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137151

Predicted Effect

probably benign
Transcript: ENSMUST00000144322

SMART Domains

Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	67	75	N/A	INTRINSIC
coiled coil region	76	107	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	C	T	9: 65,409,466 (GRCm39)		probably null	Het
Ankrd31	A	G	13: 96,968,562 (GRCm39)	E733G	possibly damaging	Het
Cars2	C	T	8: 11,580,321 (GRCm39)	W239*	probably null	Het
Catsperz	A	T	19: 6,899,929 (GRCm39)	L192*	probably null	Het
Ccdc168	G	A	1: 44,099,173 (GRCm39)	R642W	probably benign	Het
Cdh3	T	C	8: 107,237,975 (GRCm39)		probably null	Het
Cfh	C	T	1: 140,075,459 (GRCm39)	V260M	probably damaging	Het
Clcn4	T	A	7: 7,296,958 (GRCm39)	S227C	probably benign	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Col27a1	C	A	4: 63,143,278 (GRCm39)	A322D	probably damaging	Het
Egflam	C	T	15: 7,238,082 (GRCm39)	G934S	probably damaging	Het
Eloa	A	G	4: 135,734,510 (GRCm39)	V665A	probably damaging	Het
Epg5	A	G	18: 78,073,275 (GRCm39)	T2433A	probably benign	Het
Ercc5	A	G	1: 44,215,011 (GRCm39)	N848S	possibly damaging	Het
Fbrsl1	A	C	5: 110,526,020 (GRCm39)	F61V	probably damaging	Het
Fry	T	C	5: 150,349,683 (GRCm39)	Y1595H	probably damaging	Het
Fstl4	A	G	11: 52,963,256 (GRCm39)	N213D	probably benign	Het
Gab2	C	T	7: 96,950,645 (GRCm39)	P446L	probably damaging	Het
Ganab	A	T	19: 8,888,716 (GRCm39)	Y552F	possibly damaging	Het
Gfy	C	T	7: 44,826,962 (GRCm39)	R378Q	probably damaging	Het
Gm3285	T	C	10: 77,697,875 (GRCm39)	V8A	unknown	Het
Grip1	A	T	10: 119,913,043 (GRCm39)		probably null	Het
Gtf3c3	A	G	1: 54,442,752 (GRCm39)	L764P	probably damaging	Het
Igfbp2	A	T	1: 72,888,307 (GRCm39)	M150L	probably benign	Het
Jakmip2	C	T	18: 43,673,676 (GRCm39)	R796Q	probably damaging	Het
Jpt1	T	A	11: 115,389,021 (GRCm39)	R141W	probably damaging	Het
Junb	T	C	8: 85,704,802 (GRCm39)	E86G	probably damaging	Het
Klhl41	A	T	2: 69,505,068 (GRCm39)	D457V	probably benign	Het
Lama2	T	C	10: 26,977,389 (GRCm39)	Y1930C	probably benign	Het
Med13	A	T	11: 86,161,828 (GRCm39)	I2167N	probably damaging	Het
Msh3	A	G	13: 92,485,840 (GRCm39)		probably benign	Het
Myo1b	A	C	1: 51,817,483 (GRCm39)	I593S	probably damaging	Het
Myo1c	A	T	11: 75,548,345 (GRCm39)	T16S	possibly damaging	Het
Ndufaf4	C	T	4: 24,901,829 (GRCm39)	L126F	probably damaging	Het
Nlrp9a	A	T	7: 26,256,721 (GRCm39)	N113I	possibly damaging	Het
Or5d43	T	A	2: 88,104,794 (GRCm39)	I200F	probably damaging	Het
Or5g23	G	C	2: 85,438,528 (GRCm39)	S242C	probably damaging	Het
Or5p6	T	A	7: 107,631,128 (GRCm39)	T141S	probably benign	Het
Pabpc6	A	T	17: 9,887,611 (GRCm39)	D313E	probably damaging	Het
Pcdhb2	G	T	18: 37,428,857 (GRCm39)	G277*	probably null	Het
Phkb	T	G	8: 86,756,226 (GRCm39)	V840G	probably damaging	Het
Ptprb	A	G	10: 116,179,779 (GRCm39)	E1112G	probably damaging	Het
Pum2	A	G	12: 8,797,206 (GRCm39)	D847G	probably damaging	Het
Qrich2	C	T	11: 116,346,450 (GRCm39)	R1458H	probably benign	Het
Rdh11	T	C	12: 79,231,957 (GRCm39)	Y199C	probably damaging	Het
Resf1	A	T	6: 149,228,291 (GRCm39)	N446Y	possibly damaging	Het
Scamp3	A	G	3: 89,087,673 (GRCm39)	Y171C	probably damaging	Het
Serpinb9b	T	C	13: 33,223,743 (GRCm39)	S312P	probably damaging	Het
Slain2	G	A	5: 73,123,165 (GRCm39)	S461N	probably benign	Het
Slc23a1	G	A	18: 35,758,891 (GRCm39)	T100I	probably damaging	Het
Spata31d1b	T	A	13: 59,866,194 (GRCm39)	I1114N	probably damaging	Het
Spinkl	A	G	18: 44,307,656 (GRCm39)	S2P	probably damaging	Het
Srrt	T	C	5: 137,300,457 (GRCm39)	N173S	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Supt16	A	T	14: 52,411,013 (GRCm39)	V697E	probably damaging	Het
Taf6l	C	T	19: 8,761,210 (GRCm39)	E53K	probably damaging	Het
Tmem81	A	T	1: 132,435,511 (GRCm39)	I106F	probably damaging	Het
Tnxb	C	A	17: 34,935,382 (GRCm39)	L2561I	probably damaging	Het
Top3b	G	A	16: 16,709,232 (GRCm39)	R640H	probably benign	Het
Trpm7	A	T	2: 126,652,085 (GRCm39)	S1463T	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Tubal3	A	C	13: 3,978,198 (GRCm39)	D38A	possibly damaging	Het
Vps13a	T	A	19: 16,624,962 (GRCm39)	I2766F	probably benign	Het
Wwc1	A	T	11: 35,735,022 (GRCm39)	V951E	possibly damaging	Het
Zfp777	A	T	6: 48,006,152 (GRCm39)	M414K	probably benign	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
R8793:Pip4k2c	UTSW	10	127,042,530 (GRCm39)	missense	probably damaging	0.99
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'- CACCAGAAGGAAGTTATTTGGATG -3'
(R):5'- AGCCAAGACTGTCAAGCACG -3'

Sequencing Primer
(F):5'- ATTTGGATGGAAGGAGCCTGC -3'
(R):5'- CTCTGGAAAGAACGCTTCTGG -3'

Posted On

2019-10-24