Mutagenetix > Incidental Mutation

Incidental Mutation 'R9610:Pip4k2c'

724162

Institutional Source

Beutler Lab

Gene Symbol

Pip4k2c

Ensembl Gene

ENSMUSG00000025417

Gene Name

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

Synonyms

Pip5k2c

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9610 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127032936-127047454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 127036069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 266 (L266R)

Ref Sequence

ENSEMBL: ENSMUSP00000013970 (fasta)

Gene Model

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

AlphaFold

Q91XU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000013970
AA Change: L266R

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

SMART Domains

Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417
AA Change: L266R

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: 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: 99.1%

Validation Efficiency

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
Adamts19	A	T	18: 59,023,399 (GRCm39)	T265S	probably benign	Het
Arhgef5	A	G	6: 43,257,890 (GRCm39)	I1311M	probably damaging	Het
Bcr	T	A	10: 74,990,743 (GRCm39)	Y750N	probably damaging	Het
Bcr	T	A	10: 74,990,745 (GRCm39)	Y750*	probably null	Het
Btbd16	T	A	7: 130,407,595 (GRCm39)	M295K	probably benign	Het
Ccdc88a	T	C	11: 29,427,316 (GRCm39)	L1007P	possibly damaging	Het
Cnep1r1	A	G	8: 88,860,457 (GRCm39)	*126W	probably null	Het
Cstf1	T	A	2: 172,214,984 (GRCm39)	I35N	probably benign	Het
Cstpp1	T	C	2: 91,135,127 (GRCm39)	D111G	probably damaging	Het
Cul9	A	G	17: 46,830,823 (GRCm39)	L1690P	possibly damaging	Het
Dnm2	A	T	9: 21,414,973 (GRCm39)	K677*	probably null	Het
Dscaml1	C	A	9: 45,579,522 (GRCm39)	N356K	possibly damaging	Het
Dvl3	A	G	16: 20,346,008 (GRCm39)	D446G	probably damaging	Het
Ecm2	A	G	13: 49,668,518 (GRCm39)	N74D	probably benign	Het
Ecm2	A	G	13: 49,681,216 (GRCm39)	I450M	probably damaging	Het
Emc1	T	A	4: 139,091,035 (GRCm39)	D460E	probably benign	Het
Fhip2b	T	C	14: 70,824,258 (GRCm39)	Y493C	probably benign	Het
Fuom	T	A	7: 139,679,828 (GRCm39)	E121V	possibly damaging	Het
Fyco1	T	C	9: 123,657,585 (GRCm39)	T864A	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gcsh	T	A	8: 117,720,125 (GRCm39)	Y14F	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gucy2g	T	C	19: 55,194,605 (GRCm39)	I937M	probably damaging	Het
Hsp90ab1	T	C	17: 45,880,600 (GRCm39)	I370M	possibly damaging	Het
Hypk	T	C	2: 121,288,154 (GRCm39)	S72P	probably damaging	Het
Izumo1r	T	G	9: 14,811,840 (GRCm39)	I183L	possibly damaging	Het
Kctd13	G	T	7: 126,544,180 (GRCm39)	G293C	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt13	T	C	11: 100,012,318 (GRCm39)	S2G	probably benign	Het
Mark4	C	A	7: 19,167,338 (GRCm39)	R467L	possibly damaging	Het
Mrps33	T	A	6: 39,779,422 (GRCm39)	K91M	probably damaging	Het
Muc5ac	T	A	7: 141,350,078 (GRCm39)	V608D	possibly damaging	Het
Myb	G	A	10: 21,030,627 (GRCm39)	Q57*	probably null	Het
Or51f1	T	G	7: 102,506,147 (GRCm39)	H114P	probably damaging	Het
Peg10	GCAC	GCACCAC	6: 4,756,452 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Plg	T	C	17: 12,609,213 (GRCm39)	Y173H	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Ppp1r16b	T	A	2: 158,537,998 (GRCm39)	Y40N	probably damaging	Het
Prl5a1	A	G	13: 28,329,492 (GRCm39)	E57G	possibly damaging	Het
Psmb10	A	G	8: 106,664,144 (GRCm39)	F75S	probably benign	Het
Ptprm	C	A	17: 67,000,483 (GRCm39)	R1167M	probably damaging	Het
Rbm46	T	C	3: 82,771,541 (GRCm39)	H358R	probably benign	Het
Rgl1	A	G	1: 152,397,115 (GRCm39)	S684P	probably benign	Het
Rmnd5b	T	C	11: 51,517,869 (GRCm39)	I162V	probably damaging	Het
Sh3d19	T	C	3: 86,014,529 (GRCm39)	V440A	possibly damaging	Het
Sik1	T	A	17: 32,073,246 (GRCm39)	K70M	probably damaging	Het
Slc44a4	C	T	17: 35,147,793 (GRCm39)	S611F	probably benign	Het
Stk32a	A	G	18: 43,430,620 (GRCm39)	I177V	probably benign	Het
Syt7	G	A	19: 10,421,459 (GRCm39)	D548N	probably benign	Het
Tcf7l2	A	G	19: 55,899,038 (GRCm39)	D215G	probably null	Het
Tex14	T	A	11: 87,377,084 (GRCm39)	F143I	probably damaging	Het
Tjp3	A	G	10: 81,119,411 (GRCm39)	V26A	possibly damaging	Het
Tpx2	T	A	2: 152,715,124 (GRCm39)	V115D	probably benign	Het
Tubb2b	C	A	13: 34,311,742 (GRCm39)	K350N	probably damaging	Het
Usf3	T	C	16: 44,036,936 (GRCm39)	V472A	probably benign	Het
Vps13b	G	T	15: 35,642,555 (GRCm39)	G1389V	possibly damaging	Het
Vps39	T	C	2: 120,172,485 (GRCm39)	R183G	probably damaging	Het
Wnk4	G	T	11: 101,159,250 (GRCm39)	E556*	probably null	Het
Xpo7	T	A	14: 70,925,617 (GRCm39)	E474V	probably benign	Het
Zbtb18	A	G	1: 177,275,341 (GRCm39)	R234G	probably null	Het
Zc3h14	T	A	12: 98,737,663 (GRCm39)	I50N	possibly damaging	Het
Zfat	A	G	15: 68,051,655 (GRCm39)	V713A	possibly damaging	Het
Zfp462	T	C	4: 55,009,545 (GRCm39)	S504P	possibly damaging	Het
Zmiz1	T	C	14: 25,651,022 (GRCm39)	V502A	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
R7586:Pip4k2c	UTSW	10	127,034,955 (GRCm39)	missense	probably damaging	1.00
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
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'- CAGTGCCCAAGTCCTAGAAC -3'
(R):5'- TTCTGAGATGGAGAGCCCTG -3'

Sequencing Primer
(F):5'- GTGCCCAAGTCCTAGAACCTAAAG -3'
(R):5'- AGCCCTGGATGGAGGTG -3'

Posted On

2022-09-12