Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Pik3r1'

199668

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

039767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101817269-101904725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101822882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 607 (Y607N)

Ref Sequence

ENSEMBL: ENSMUSP00000056774 (fasta)

Gene Model

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

AlphaFold

P26450

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035532
AA Change: Y337N

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: Y337N

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: Y607N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: Y607N

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 benign
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 benign
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

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,646,801 (GRCm39)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,552,350 (GRCm39)	M61K	probably null	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Klhl40	T	C	9: 121,609,004 (GRCm39)	S390P	probably benign	Het
Lonp1	G	A	17: 56,921,956 (GRCm39)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,810,466 (GRCm39)	D414G	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or52ae7	T	A	7: 103,119,353 (GRCm39)	F36I	possibly damaging	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pcdhb18	A	T	18: 37,623,822 (GRCm39)	H384L	probably benign	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,585,882 (GRCm39)	H965L	probably benign	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	probably null	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
R1184:Pik3r1	UTSW	13	101,822,866 (GRCm39)	splice site	probably null
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

2014-05-23