Mutagenetix > Incidental Mutation

Incidental Mutation 'R8414:Pik3r2'

652839

Institutional Source

Beutler Lab

Gene Symbol

Pik3r2

Ensembl Gene

ENSMUSG00000031834

Gene Name

phosphoinositide-3-kinase regulatory subunit 2

Synonyms

p85beta

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8414 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70768176-70776713 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70770435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 447 (Y447C)

Ref Sequence

ENSEMBL: ENSMUSP00000034296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034296] [ENSMUST00000143785]

AlphaFold

O08908

PDB Structure

CRYSTAL STRUCTURE OF P110BETA IN COMPLEX WITH ICSH2 OF P85BETA AND THE DRUG GDC-0941 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034296
AA Change: Y447C

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

SMART Domains

Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
AA Change: Y447C

Domain	Start	End	E-Value	Type
SH3	7	79	4e-7	SMART
RhoGAP	122	286	2.36e-18	SMART
low complexity region	291	311	N/A	INTRINSIC
SH2	322	405	4.51e-26	SMART
Pfam:PI3K_P85_iSH2	422	590	1.7e-64	PFAM
SH2	614	696	9.96e-28	SMART
low complexity region	713	718	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143785

SMART Domains

Protein: ENSMUSP00000122065
Gene: ENSMUSG00000031834

Domain	Start	End	E-Value	Type
Blast:RhoGAP	1	30	1e-8	BLAST
Pfam:SH2	33	70	4.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154685

SMART Domains

Protein: ENSMUSP00000121463
Gene: ENSMUSG00000031834

Domain	Start	End	E-Value	Type
PDB:2XS6\|A	43	84	3e-11	PDB
SCOP:d1pbwa_	47	79	6e-9	SMART
Blast:RhoGAP	58	84	4e-9	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene have lower blood glucose levels both when fed and after fasting. Insulin sensitivity is improved as well. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	T	8: 84,167,323	E373V	probably damaging	Het
9530053A07Rik	T	A	7: 28,142,733	C698S	probably damaging	Het
AA467197	T	C	2: 122,638,317	Y33H	probably damaging	Het
Abcc10	T	C	17: 46,312,347	R880G	probably benign	Het
Abcg2	T	A	6: 58,669,236	Y246N	probably benign	Het
Abhd18	A	G	3: 40,933,626	M302V	probably benign	Het
Ablim2	A	G	5: 35,874,891	D568G	possibly damaging	Het
Alpk2	T	C	18: 65,307,471	R284G	possibly damaging	Het
AU021092	T	C	16: 5,216,785	Y191C	probably damaging	Het
Bdp1	T	A	13: 100,064,477	T751S	probably benign	Het
Ccdc136	A	G	6: 29,412,930	E438G	probably damaging	Het
Cul2	C	A	18: 3,399,912	N15K	probably benign	Het
Eml2	C	A	7: 19,179,295	Q73K	probably damaging	Het
Epha6	C	A	16: 60,005,667	R588S	probably damaging	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fbxw28	C	T	9: 109,326,536	W389*	probably null	Het
Gbp4	A	T	5: 105,136,837	V62E	probably benign	Het
Gm30302	A	G	13: 49,787,797	S56P	probably damaging	Het
Gtf2h1	C	A	7: 46,815,344	T401K	possibly damaging	Het
Hif1a	G	T	12: 73,937,654	M294I	probably benign	Het
Irak2	A	G	6: 113,686,942	N484S	probably benign	Het
Kcnj16	A	G	11: 111,025,615	T368A	probably benign	Het
Kcnq1	G	A	7: 143,363,666	G588D	probably damaging	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Nckap5	T	G	1: 126,014,620	E1582D	probably damaging	Het
Nrip3	A	G	7: 109,763,528	I183T	possibly damaging	Het
Olfr1222	A	G	2: 89,125,714	F6L	probably benign	Het
Olfr979	T	A	9: 40,000,945	H94L	probably benign	Het
Pcdha2	C	T	18: 36,941,566	S750L	probably damaging	Het
Poteg	T	C	8: 27,448,040	Y75H	probably benign	Het
Proser1	G	C	3: 53,478,556	G620R	probably damaging	Het
Prpsap1	A	T	11: 116,478,613	L164H	probably damaging	Het
Rfc3	A	T	5: 151,644,916	V195E	possibly damaging	Het
Sarm1	A	T	11: 78,487,968	V417D	probably damaging	Het
She	A	G	3: 89,831,867	T122A	probably benign	Het
Srpr	A	G	9: 35,214,837	E442G	probably benign	Het
Sult2a6	T	A	7: 14,250,432	R124S	probably damaging	Het
Synm	T	C	7: 67,733,763	T1384A	probably benign	Het
Tenm3	A	G	8: 48,293,509	V1087A	probably damaging	Het
Ticam1	T	A	17: 56,271,340	I252L	probably benign	Het
Trbv31	C	A	6: 41,557,763	D89Y	possibly damaging	Het
Trpc7	G	A	13: 56,822,469	T434I	probably benign	Het
Tubgcp4	T	A	2: 121,194,153	I603N	probably benign	Het
Ugt3a1	A	G	15: 9,310,583	N317S	possibly damaging	Het
Vdac1	C	T	11: 52,376,503	T77I	possibly damaging	Het
Vmn2r113	A	T	17: 22,958,779	R846*	probably null	Het
Zc3h12d	GCCC	GCC	10: 7,839,971		probably null	Het
Zranb2	G	T	3: 157,546,675	R310S	unknown	Het

Other mutations in Pik3r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Pik3r2	APN	8	70770429	missense	probably damaging	1.00
IGL01637:Pik3r2	APN	8	70772348	unclassified	probably benign
IGL02514:Pik3r2	APN	8	70770592	missense	probably benign	0.00
IGL03395:Pik3r2	APN	8	70772355	missense	probably benign
kingfisher	UTSW	8	70770901	missense	probably damaging	1.00
R0022:Pik3r2	UTSW	8	70770901	missense	probably damaging	1.00
R0022:Pik3r2	UTSW	8	70770901	missense	probably damaging	1.00
R0448:Pik3r2	UTSW	8	70772044	unclassified	probably benign
R1636:Pik3r2	UTSW	8	70771898	missense	probably benign
R1662:Pik3r2	UTSW	8	70770606	missense	probably damaging	1.00
R2114:Pik3r2	UTSW	8	70769385	missense	probably benign	0.31
R2879:Pik3r2	UTSW	8	70772385	missense	probably benign
R3830:Pik3r2	UTSW	8	70770421	missense	probably benign	0.19
R3852:Pik3r2	UTSW	8	70770421	missense	probably benign	0.19
R3859:Pik3r2	UTSW	8	70769986	missense	probably damaging	1.00
R3967:Pik3r2	UTSW	8	70770421	missense	probably benign	0.19
R3968:Pik3r2	UTSW	8	70770421	missense	probably benign	0.19
R3969:Pik3r2	UTSW	8	70770421	missense	probably benign	0.19
R3970:Pik3r2	UTSW	8	70770421	missense	probably benign	0.19
R4606:Pik3r2	UTSW	8	70772136	nonsense	probably null
R4666:Pik3r2	UTSW	8	70768859	missense	possibly damaging	0.93
R5481:Pik3r2	UTSW	8	70769764	missense	probably benign	0.31
R6445:Pik3r2	UTSW	8	70772026	missense	probably benign	0.01
R6578:Pik3r2	UTSW	8	70772639	missense	probably benign	0.00
R6667:Pik3r2	UTSW	8	70769173	missense	probably damaging	1.00
R6794:Pik3r2	UTSW	8	70770717	missense	probably benign	0.43
R6863:Pik3r2	UTSW	8	70770414	missense	probably damaging	1.00
R7378:Pik3r2	UTSW	8	70769381	missense	probably benign	0.03
R7750:Pik3r2	UTSW	8	70770901	missense	probably damaging	1.00
R7821:Pik3r2	UTSW	8	70769764	missense	probably damaging	1.00
R8056:Pik3r2	UTSW	8	70772367	missense	probably benign	0.14
R8237:Pik3r2	UTSW	8	70772150	missense	probably benign	0.00
R8534:Pik3r2	UTSW	8	70774668	missense	probably benign
R8781:Pik3r2	UTSW	8	70769402	missense	possibly damaging	0.88
R8794:Pik3r2	UTSW	8	70771363	missense	probably benign
R9322:Pik3r2	UTSW	8	70774850	missense	possibly damaging	0.74
R9401:Pik3r2	UTSW	8	70771093	missense	possibly damaging	0.77
R9668:Pik3r2	UTSW	8	70768815	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTAGATTTGTAAGAAGCACTGGG -3'
(R):5'- ACGAATCACTGGCCCAGTAC -3'

Sequencing Primer
(F):5'- TTTGTAAGAAGCACTGGGAGGAAATG -3'
(R):5'- AGCTGGACACACGCCTTCTC -3'

Posted On

2020-10-20