Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Pik3r2'

93086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pik3r2

Ensembl Gene

ENSMUSG00000031834

Gene Name

phosphoinositide-3-kinase regulatory subunit 2

Synonyms

p85beta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

71220820-71229357 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 71224992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

O08908

Predicted Effect

probably benign
Transcript: ENSMUST00000034296

SMART Domains

Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834

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

noncoding transcript
Transcript: ENSMUST00000142370

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

noncoding transcript
Transcript: ENSMUST00000146707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152545

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212384

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-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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,604,109 (GRCm39)	I384N	probably damaging	Het
Adsl	G	T	15: 80,832,901 (GRCm39)	Q51H	probably null	Het
Apcdd1	A	G	18: 63,070,357 (GRCm39)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,394,580 (GRCm39)	R155*	probably null	Het
Atp9b	T	C	18: 80,799,670 (GRCm39)	E823G	probably benign	Het
Bmp1	A	G	14: 70,729,901 (GRCm39)	W468R	probably damaging	Het
C6	A	G	15: 4,789,399 (GRCm39)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,824,078 (GRCm39)	T1392A	probably benign	Het
Dhx34	G	T	7: 15,939,398 (GRCm39)	S665Y	probably damaging	Het
Dock1	A	T	7: 134,739,542 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,244,625 (GRCm39)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,696,412 (GRCm39)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,252,254 (GRCm39)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm39)	V150A	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Gabrg1	T	A	5: 70,934,548 (GRCm39)	T277S	probably damaging	Het
Galntl5	T	C	5: 25,394,823 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,304,073 (GRCm39)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,286,917 (GRCm39)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,520,224 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,906 (GRCm39)		noncoding transcript	Het
Gstm3	T	C	3: 107,874,949 (GRCm39)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,413,856 (GRCm39)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,231,353 (GRCm39)		probably benign	Het
Ighv7-1	T	A	12: 113,860,123 (GRCm39)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,346,409 (GRCm39)	L1009P	probably damaging	Het
Kif1a	A	G	1: 92,967,575 (GRCm39)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,081,237 (GRCm39)	D232E	possibly damaging	Het
Klb	G	A	5: 65,533,022 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,051,489 (GRCm39)	A421V	probably benign	Het
Mdga1	G	A	17: 30,058,845 (GRCm39)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,199,739 (GRCm39)		probably benign	Het
Myo18b	T	A	5: 112,988,495 (GRCm39)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,437,946 (GRCm39)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,440,204 (GRCm39)	L594I	probably damaging	Het
Notch2	C	T	3: 98,053,376 (GRCm39)	T2013I	probably damaging	Het
Or2ah1	A	T	2: 85,653,332 (GRCm39)	T6S	probably benign	Het
Or2y3	G	A	17: 38,392,994 (GRCm39)	L292F	possibly damaging	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c216	A	G	10: 129,678,479 (GRCm39)	L144P	probably benign	Het
Or7g27	T	C	9: 19,250,260 (GRCm39)	F168S	probably damaging	Het
Panx3	T	C	9: 37,575,352 (GRCm39)	D170G	probably damaging	Het
Pclo	A	G	5: 14,590,048 (GRCm39)	S783G	unknown	Het
Pde3b	T	A	7: 114,126,136 (GRCm39)	L790*	probably null	Het
Rassf4	A	G	6: 116,618,651 (GRCm39)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,833,066 (GRCm39)	P666S	probably benign	Het
Rnf123	A	G	9: 107,935,437 (GRCm39)	F979L	probably damaging	Het
Rock2	T	A	12: 17,015,172 (GRCm39)	D788E	probably benign	Het
Serpina3b	A	G	12: 104,099,216 (GRCm39)	T244A	probably benign	Het
Setd1b	T	C	5: 123,286,576 (GRCm39)	S541P	unknown	Het
Slc12a4	T	C	8: 106,687,339 (GRCm39)	D60G	possibly damaging	Het
Stac2	T	C	11: 97,932,180 (GRCm39)	E241G	probably benign	Het
Tafa3	C	T	3: 104,680,395 (GRCm39)	V75M	probably damaging	Het
Tas2r115	A	G	6: 132,714,592 (GRCm39)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,205,946 (GRCm39)	F450I	probably benign	Het
Txnl1	A	T	18: 63,807,262 (GRCm39)	I198N	probably damaging	Het
Ubr2	A	T	17: 47,267,580 (GRCm39)	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,287,759 (GRCm39)	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066 (GRCm39)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,973,213 (GRCm39)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,402,373 (GRCm39)	T203S	probably damaging	Het
Vwf	T	A	6: 125,622,699 (GRCm39)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,732 (GRCm39)	H676R	probably benign	Het

Other mutations in Pik3r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Pik3r2	APN	8	71,223,073 (GRCm39)	missense	probably damaging	1.00
IGL02514:Pik3r2	APN	8	71,223,236 (GRCm39)	missense	probably benign	0.00
IGL03395:Pik3r2	APN	8	71,224,999 (GRCm39)	missense	probably benign
kingfisher	UTSW	8	71,223,545 (GRCm39)	missense	probably damaging	1.00
R0022:Pik3r2	UTSW	8	71,223,545 (GRCm39)	missense	probably damaging	1.00
R0022:Pik3r2	UTSW	8	71,223,545 (GRCm39)	missense	probably damaging	1.00
R0448:Pik3r2	UTSW	8	71,224,688 (GRCm39)	unclassified	probably benign
R1636:Pik3r2	UTSW	8	71,224,542 (GRCm39)	missense	probably benign
R1662:Pik3r2	UTSW	8	71,223,250 (GRCm39)	missense	probably damaging	1.00
R2114:Pik3r2	UTSW	8	71,222,029 (GRCm39)	missense	probably benign	0.31
R2879:Pik3r2	UTSW	8	71,225,029 (GRCm39)	missense	probably benign
R3830:Pik3r2	UTSW	8	71,223,065 (GRCm39)	missense	probably benign	0.19
R3852:Pik3r2	UTSW	8	71,223,065 (GRCm39)	missense	probably benign	0.19
R3859:Pik3r2	UTSW	8	71,222,630 (GRCm39)	missense	probably damaging	1.00
R3967:Pik3r2	UTSW	8	71,223,065 (GRCm39)	missense	probably benign	0.19
R3968:Pik3r2	UTSW	8	71,223,065 (GRCm39)	missense	probably benign	0.19
R3969:Pik3r2	UTSW	8	71,223,065 (GRCm39)	missense	probably benign	0.19
R3970:Pik3r2	UTSW	8	71,223,065 (GRCm39)	missense	probably benign	0.19
R4606:Pik3r2	UTSW	8	71,224,780 (GRCm39)	nonsense	probably null
R4666:Pik3r2	UTSW	8	71,221,503 (GRCm39)	missense	possibly damaging	0.93
R5481:Pik3r2	UTSW	8	71,222,408 (GRCm39)	missense	probably benign	0.31
R6445:Pik3r2	UTSW	8	71,224,670 (GRCm39)	missense	probably benign	0.01
R6578:Pik3r2	UTSW	8	71,225,283 (GRCm39)	missense	probably benign	0.00
R6667:Pik3r2	UTSW	8	71,221,817 (GRCm39)	missense	probably damaging	1.00
R6794:Pik3r2	UTSW	8	71,223,361 (GRCm39)	missense	probably benign	0.43
R6863:Pik3r2	UTSW	8	71,223,058 (GRCm39)	missense	probably damaging	1.00
R7378:Pik3r2	UTSW	8	71,222,025 (GRCm39)	missense	probably benign	0.03
R7750:Pik3r2	UTSW	8	71,223,545 (GRCm39)	missense	probably damaging	1.00
R7821:Pik3r2	UTSW	8	71,222,408 (GRCm39)	missense	probably damaging	1.00
R8056:Pik3r2	UTSW	8	71,225,011 (GRCm39)	missense	probably benign	0.14
R8237:Pik3r2	UTSW	8	71,224,794 (GRCm39)	missense	probably benign	0.00
R8414:Pik3r2	UTSW	8	71,223,079 (GRCm39)	missense	probably damaging	1.00
R8534:Pik3r2	UTSW	8	71,227,312 (GRCm39)	missense	probably benign
R8781:Pik3r2	UTSW	8	71,222,046 (GRCm39)	missense	possibly damaging	0.88
R8794:Pik3r2	UTSW	8	71,224,007 (GRCm39)	missense	probably benign
R9322:Pik3r2	UTSW	8	71,227,494 (GRCm39)	missense	possibly damaging	0.74
R9401:Pik3r2	UTSW	8	71,223,737 (GRCm39)	missense	possibly damaging	0.77
R9668:Pik3r2	UTSW	8	71,221,459 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09