Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01345:Pik3r5'

75029

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pik3r5

Ensembl Gene

ENSMUSG00000020901

Gene Name

phosphoinositide-3-kinase regulatory subunit 5

Synonyms

p101, Foap2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL01345

Quality Score

Status

Chromosome

Chromosomal Location

68322951-68388675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68387020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 854 (D854N)

Ref Sequence

ENSEMBL: ENSMUSP00000021283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021283]

AlphaFold

Q5SW28

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021283
AA Change: D854N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021283
Gene: ENSMUSG00000020901
AA Change: D854N

Domain	Start	End	E-Value	Type
Pfam:PI3K_1B_p101	6	871	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155887

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced neutrophil chemotaxis and chemokinesis in vitro and impaired neutrophil recruitment into the peritoneum in a model of thioglycollate-induced aseptic peritonitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,020 (GRCm39)		probably benign	Het
Atr	G	A	9: 95,823,002 (GRCm39)	C2323Y	probably damaging	Het
Ccdc107	T	A	4: 43,493,453 (GRCm39)	L8*	probably null	Het
Erc1	T	A	6: 119,738,224 (GRCm39)	K240*	probably null	Het
Gcat	T	C	15: 78,918,265 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gm8267	A	G	14: 44,962,412 (GRCm39)	S3P	probably damaging	Het
Gpr26	T	C	7: 131,569,161 (GRCm39)	F169L	possibly damaging	Het
Itgal	T	A	7: 126,900,128 (GRCm39)	F129I	possibly damaging	Het
Kcnk1	T	A	8: 126,752,146 (GRCm39)	C251S	possibly damaging	Het
Nfkb1	T	C	3: 135,300,742 (GRCm39)	D608G	probably damaging	Het
Nlrp2	T	C	7: 5,320,491 (GRCm39)	E882G	probably benign	Het
Odad2	T	C	18: 7,266,947 (GRCm39)	K385E	probably benign	Het
Rnf220	G	A	4: 117,130,467 (GRCm39)	R253*	probably null	Het
Slc22a15	A	C	3: 101,787,492 (GRCm39)	S259R	probably benign	Het
Tln1	G	A	4: 43,536,281 (GRCm39)	L2004F	probably damaging	Het
Tlnrd1	A	G	7: 83,532,054 (GRCm39)	S126P	probably damaging	Het
Ulk4	T	C	9: 121,037,228 (GRCm39)	T587A	possibly damaging	Het
Vasn	A	G	16: 4,466,232 (GRCm39)	I60V	probably benign	Het
Vps33a	G	T	5: 123,711,006 (GRCm39)	N13K	probably benign	Het
Zmiz2	A	G	11: 6,355,015 (GRCm39)	D862G	possibly damaging	Het
Zswim3	T	A	2: 164,662,057 (GRCm39)	L179H	probably damaging	Het

Other mutations in Pik3r5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Pik3r5	APN	11	68,385,373 (GRCm39)	missense	probably benign	0.01
IGL01597:Pik3r5	APN	11	68,386,827 (GRCm39)	missense	probably damaging	1.00
IGL01622:Pik3r5	APN	11	68,377,452 (GRCm39)	splice site	probably null
IGL01623:Pik3r5	APN	11	68,377,452 (GRCm39)	splice site	probably null
IGL01878:Pik3r5	APN	11	68,383,356 (GRCm39)	missense	probably benign	0.00
IGL01953:Pik3r5	APN	11	68,384,997 (GRCm39)	missense	probably benign	0.00
IGL02056:Pik3r5	APN	11	68,381,681 (GRCm39)	missense	possibly damaging	0.86
IGL02345:Pik3r5	APN	11	68,383,552 (GRCm39)	missense	probably benign	0.03
palmetto	UTSW	11	68,385,059 (GRCm39)	missense	probably damaging	1.00
Palmito	UTSW	11	68,382,826 (GRCm39)	missense	probably damaging	1.00
palms	UTSW	11	68,377,448 (GRCm39)	critical splice donor site	probably null
piranha	UTSW	11	68,377,407 (GRCm39)	missense	probably damaging	1.00
Serenoa_repens	UTSW	11	68,366,250 (GRCm39)	nonsense	probably null
IGL02799:Pik3r5	UTSW	11	68,386,773 (GRCm39)	missense	probably damaging	0.98
R0077:Pik3r5	UTSW	11	68,377,448 (GRCm39)	critical splice donor site	probably null
R0092:Pik3r5	UTSW	11	68,383,629 (GRCm39)	missense	probably benign
R0105:Pik3r5	UTSW	11	68,381,337 (GRCm39)	missense	probably damaging	0.99
R0118:Pik3r5	UTSW	11	68,381,306 (GRCm39)	missense	probably damaging	1.00
R1204:Pik3r5	UTSW	11	68,385,050 (GRCm39)	missense	probably benign	0.03
R1447:Pik3r5	UTSW	11	68,385,003 (GRCm39)	missense	probably benign	0.18
R1865:Pik3r5	UTSW	11	68,383,318 (GRCm39)	missense	probably damaging	1.00
R2034:Pik3r5	UTSW	11	68,384,403 (GRCm39)	missense	probably damaging	0.99
R2356:Pik3r5	UTSW	11	68,383,743 (GRCm39)	missense	probably damaging	1.00
R4588:Pik3r5	UTSW	11	68,384,087 (GRCm39)	intron	probably benign
R4716:Pik3r5	UTSW	11	68,386,030 (GRCm39)	missense	possibly damaging	0.48
R4960:Pik3r5	UTSW	11	68,384,464 (GRCm39)	missense	probably benign	0.19
R5217:Pik3r5	UTSW	11	68,382,790 (GRCm39)	missense	possibly damaging	0.67
R5518:Pik3r5	UTSW	11	68,368,294 (GRCm39)	missense	possibly damaging	0.86
R5528:Pik3r5	UTSW	11	68,386,803 (GRCm39)	missense	probably damaging	1.00
R5554:Pik3r5	UTSW	11	68,385,059 (GRCm39)	missense	probably damaging	1.00
R5693:Pik3r5	UTSW	11	68,385,077 (GRCm39)	missense	probably damaging	1.00
R5841:Pik3r5	UTSW	11	68,383,096 (GRCm39)	missense	probably damaging	1.00
R6025:Pik3r5	UTSW	11	68,383,144 (GRCm39)	missense	probably damaging	0.97
R6168:Pik3r5	UTSW	11	68,383,501 (GRCm39)	missense	probably benign
R6243:Pik3r5	UTSW	11	68,382,826 (GRCm39)	missense	probably damaging	1.00
R6322:Pik3r5	UTSW	11	68,383,567 (GRCm39)	missense	probably benign
R6420:Pik3r5	UTSW	11	68,366,250 (GRCm39)	nonsense	probably null
R6505:Pik3r5	UTSW	11	68,383,615 (GRCm39)	missense	probably benign	0.16
R6534:Pik3r5	UTSW	11	68,381,443 (GRCm39)	missense	possibly damaging	0.59
R6817:Pik3r5	UTSW	11	68,377,407 (GRCm39)	missense	probably damaging	1.00
R7246:Pik3r5	UTSW	11	68,383,769 (GRCm39)	missense	probably benign	0.01
R7459:Pik3r5	UTSW	11	68,383,416 (GRCm39)	missense	probably benign	0.03
R7527:Pik3r5	UTSW	11	68,367,177 (GRCm39)	missense	probably damaging	1.00
R7739:Pik3r5	UTSW	11	68,381,324 (GRCm39)	missense	probably damaging	1.00
R7817:Pik3r5	UTSW	11	68,384,483 (GRCm39)	missense	probably damaging	0.99
R7877:Pik3r5	UTSW	11	68,381,431 (GRCm39)	missense	probably damaging	1.00
R7885:Pik3r5	UTSW	11	68,383,528 (GRCm39)	missense	possibly damaging	0.57
R7960:Pik3r5	UTSW	11	68,386,796 (GRCm39)	missense	probably benign	0.22
R8816:Pik3r5	UTSW	11	68,385,060 (GRCm39)	missense	probably damaging	1.00
R8836:Pik3r5	UTSW	11	68,385,104 (GRCm39)	missense	probably benign	0.06
R9131:Pik3r5	UTSW	11	68,383,099 (GRCm39)	missense	possibly damaging	0.64
R9649:Pik3r5	UTSW	11	68,381,720 (GRCm39)	missense	probably benign	0.00
R9706:Pik3r5	UTSW	11	68,381,426 (GRCm39)	missense	probably benign	0.00
Z1177:Pik3r5	UTSW	11	68,383,722 (GRCm39)	missense	possibly damaging	0.67

Posted On

2013-10-07