Mutagenetix > Incidental Mutation

Incidental Mutation 'R1184:Pik3r1'

101968

Institutional Source

Beutler Lab

Gene Symbol

Pik3r1

Ensembl Gene

ENSMUSG00000041417

Gene Name

phosphoinositide-3-kinase regulatory subunit 1

Synonyms

p85alpha, p55alpha, PI3K, p50alpha

MMRRC Submission

039256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1184 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

101817269-101904725 bp(-) (GRCm39)

Type of Mutation

splice site (1224 bp from exon)

DNA Base Change (assembly)

T to C at 101822866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035532] [ENSMUST00000055518] [ENSMUST00000185795] [ENSMUST00000187009]

AlphaFold

P26450

Predicted Effect

probably benign
Transcript: ENSMUST00000035532
AA Change: D342G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: D342G

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
SH2	61	144	9.96e-28	SMART
low complexity region	263	278	N/A	INTRINSIC
SH2	352	434	7.33e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000055518
AA Change: D612G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: D612G

Domain	Start	End	E-Value	Type
SH3	6	78	2.81e-11	SMART
low complexity region	79	99	N/A	INTRINSIC
RhoGAP	126	298	1.94e-37	SMART
low complexity region	303	314	N/A	INTRINSIC
SH2	331	414	9.96e-28	SMART
Pfam:PI3K_P85_iSH2	431	599	7.8e-67	PFAM
SH2	622	704	7.33e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000185795

SMART Domains

Protein: ENSMUSP00000140312
Gene: ENSMUSG00000041417

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
SH2	31	112	1.52e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000187009

SMART Domains

Protein: ENSMUSP00000140256
Gene: ENSMUSG00000041417

Domain	Start	End	E-Value	Type
SH2	10	93	6.5e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190171

Meta Mutation Damage Score

0.2317

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit perinatal lethality associated with hepatic necrosis, chylous ascites, enlarged muscle fibers, calcification of cardiac tissue, and hypoglycemia. Mutants lacking only the major isoform are immunodeficient. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,137,894 (GRCm39)	R7G	probably damaging	Het
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alkal1	A	G	1: 6,459,712 (GRCm39)	Y96C	probably damaging	Het
Anxa2r1	A	T	13: 120,496,667 (GRCm39)	N67K	probably benign	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,403,388 (GRCm39)	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,577,757 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,140,876 (GRCm39)	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,764,637 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,970,183 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chd6	G	C	2: 160,872,722 (GRCm39)	P286R	probably damaging	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Coq4	G	A	2: 29,678,346 (GRCm39)		probably benign	Het
Cplane1	G	T	15: 8,245,971 (GRCm39)	V1448L	probably benign	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Dcun1d4	T	C	5: 73,668,455 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,560,523 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,794,977 (GRCm39)	D416G	probably benign	Het
Dnah2	A	T	11: 69,390,016 (GRCm39)	I743N	probably damaging	Het
Dnah9	A	G	11: 65,975,438 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,846,999 (GRCm39)	S877P	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Epha5	A	T	5: 84,219,134 (GRCm39)		probably null	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fyb1	A	T	15: 6,668,381 (GRCm39)	I525F	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gcdh	T	C	8: 85,620,071 (GRCm39)		probably benign	Het
Gk5	T	C	9: 96,032,473 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,595,778 (GRCm39)	Y617H	probably benign	Het
Gvin-ps3	A	G	7: 105,683,159 (GRCm39)	V32A	probably benign	Het
Hhipl2	A	T	1: 183,206,042 (GRCm39)	I131L	probably damaging	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lrig2	T	A	3: 104,398,227 (GRCm39)	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,012,713 (GRCm39)	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,755,661 (GRCm39)		probably null	Het
Myo6	C	T	9: 80,193,664 (GRCm39)	Q870*	probably null	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325 (GRCm38)		probably benign	Het
Or11h23	A	C	14: 50,948,071 (GRCm39)	T95P	probably benign	Het
Or4c111	A	G	2: 88,844,057 (GRCm39)	M117T	probably damaging	Het
Or5an6	T	C	19: 12,372,221 (GRCm39)	V198A	probably benign	Het
Or5b108	T	G	19: 13,168,739 (GRCm39)	L236R	probably damaging	Het
Pclo	A	G	5: 14,572,276 (GRCm39)	T554A	unknown	Het
Perm1	C	A	4: 156,301,771 (GRCm39)	T105K	probably damaging	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ptpn12	A	C	5: 21,203,354 (GRCm39)	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,769,692 (GRCm39)	V391A	possibly damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,675 (GRCm39)	T47S	probably damaging	Het
Sema4b	A	G	7: 79,874,388 (GRCm39)	T593A	probably benign	Het
Serpina3a	C	T	12: 104,082,787 (GRCm39)	Q187*	probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc30a3	T	A	5: 31,247,510 (GRCm39)	H44L	probably damaging	Het
Smarca2	T	C	19: 26,748,333 (GRCm39)		probably benign	Het
Snrnp200	T	A	2: 127,078,737 (GRCm39)	C1801S	probably damaging	Het
Soat1	G	A	1: 156,269,944 (GRCm39)		probably null	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Tbck	T	A	3: 132,543,733 (GRCm39)	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,088,856 (GRCm39)	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Trmt112	C	A	19: 6,887,721 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,486,990 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ttn	A	T	2: 76,691,776 (GRCm39)		probably benign	Het
Txndc11	C	T	16: 10,946,364 (GRCm39)	R149Q	probably benign	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Usp30	G	A	5: 114,241,888 (GRCm39)		probably null	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vps33b	T	A	7: 79,932,234 (GRCm39)	D135E	probably benign	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,297,750 (GRCm39)	Y129H	probably damaging	Het

Other mutations in Pik3r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Pik3r1	APN	13	101,827,044 (GRCm39)	start codon destroyed	probably benign
IGL00484:Pik3r1	APN	13	101,838,255 (GRCm39)	missense	probably benign	0.08
IGL00911:Pik3r1	APN	13	101,894,169 (GRCm39)	utr 5 prime	probably benign
IGL01620:Pik3r1	APN	13	101,822,728 (GRCm39)	missense	probably damaging	1.00
IGL01872:Pik3r1	APN	13	101,825,625 (GRCm39)	missense	probably benign	0.01
IGL02544:Pik3r1	APN	13	101,823,784 (GRCm39)	missense	probably damaging	1.00
IGL02959:Pik3r1	APN	13	101,894,037 (GRCm39)	missense	probably benign	0.02
anubis	UTSW	13	101,839,284 (GRCm39)	nonsense	probably null
Astro_boy	UTSW	13	101,838,240 (GRCm39)	missense	probably damaging	1.00
Pennywhistle	UTSW	13	101,825,914 (GRCm39)	missense	probably damaging	0.96
Rocket	UTSW	13	101,825,952 (GRCm39)	missense	probably damaging	1.00
Starburst	UTSW	13	101,894,166 (GRCm39)	start codon destroyed	probably null	0.99
R0635:Pik3r1	UTSW	13	101,893,926 (GRCm39)	missense	probably benign
R0751:Pik3r1	UTSW	13	101,822,866 (GRCm39)	splice site	probably null
R0787:Pik3r1	UTSW	13	101,827,031 (GRCm39)	missense	probably benign	0.30
R0845:Pik3r1	UTSW	13	101,822,772 (GRCm39)	missense	probably benign	0.45
R0891:Pik3r1	UTSW	13	101,837,974 (GRCm39)	missense	probably benign
R1066:Pik3r1	UTSW	13	101,825,171 (GRCm39)	missense	probably damaging	1.00
R1735:Pik3r1	UTSW	13	101,822,882 (GRCm39)	missense	probably damaging	1.00
R2474:Pik3r1	UTSW	13	101,839,284 (GRCm39)	nonsense	probably null
R3015:Pik3r1	UTSW	13	101,823,771 (GRCm39)	missense	probably damaging	1.00
R3419:Pik3r1	UTSW	13	101,828,723 (GRCm39)	missense	probably benign	0.17
R3876:Pik3r1	UTSW	13	101,821,465 (GRCm39)	missense	probably benign	0.01
R3964:Pik3r1	UTSW	13	101,825,193 (GRCm39)	missense	possibly damaging	0.75
R4175:Pik3r1	UTSW	13	101,838,241 (GRCm39)	missense	probably benign	0.25
R4175:Pik3r1	UTSW	13	101,838,240 (GRCm39)	missense	probably damaging	1.00
R4422:Pik3r1	UTSW	13	101,830,892 (GRCm39)	missense	probably benign
R4890:Pik3r1	UTSW	13	101,894,118 (GRCm39)	missense	probably damaging	1.00
R5038:Pik3r1	UTSW	13	101,825,952 (GRCm39)	missense	probably damaging	1.00
R5117:Pik3r1	UTSW	13	101,828,744 (GRCm39)	missense	probably benign
R6066:Pik3r1	UTSW	13	101,822,828 (GRCm39)	missense	possibly damaging	0.72
R6254:Pik3r1	UTSW	13	101,825,914 (GRCm39)	missense	possibly damaging	0.89
R7421:Pik3r1	UTSW	13	101,825,644 (GRCm39)	missense	probably damaging	1.00
R7507:Pik3r1	UTSW	13	101,845,490 (GRCm39)	missense	probably benign	0.00
R7538:Pik3r1	UTSW	13	101,825,914 (GRCm39)	missense	probably damaging	0.96
R7605:Pik3r1	UTSW	13	101,839,346 (GRCm39)	missense	probably benign
R7739:Pik3r1	UTSW	13	101,846,205 (GRCm39)	missense	probably benign	0.01
R8695:Pik3r1	UTSW	13	101,894,062 (GRCm39)	missense	probably benign	0.40
R9146:Pik3r1	UTSW	13	101,825,136 (GRCm39)	splice site	probably benign
R9315:Pik3r1	UTSW	13	101,894,166 (GRCm39)	start codon destroyed	probably null	0.99
R9678:Pik3r1	UTSW	13	101,839,289 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACACTACGGAGCAGGCATAGCAG -3'
(R):5'- CCGTAATGATGTCCCCGAACATCAG -3'

Sequencing Primer
(F):5'- GCATAGCAGCCCTGCTTAC -3'
(R):5'- acatcaggaaaaaaatccccac -3'

Posted On

2014-01-15