Mutagenetix > Incidental Mutation

Incidental Mutation 'R8695:Pik3r1'

668649

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

068549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8695 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101817269-101904725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101894062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 36 (S36P)

Ref Sequence

ENSEMBL: ENSMUSP00000056774 (fasta)

Gene Model

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

AlphaFold

P26450

Predicted Effect

probably benign
Transcript: ENSMUST00000055518
AA Change: S36P

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: S36P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524J17Rik	A	G	8: 86,138,870 (GRCm39)	I73T	probably benign	Het
4930556J24Rik	A	G	11: 3,926,192 (GRCm39)		probably benign	Het
Ace	A	G	11: 105,875,971 (GRCm39)	T1010A	probably benign	Het
Adam20	A	T	8: 41,248,865 (GRCm39)	Y325F	probably benign	Het
Aff4	A	C	11: 53,259,509 (GRCm39)	N7H	probably damaging	Het
Apob	A	T	12: 8,057,830 (GRCm39)	D2104V	probably damaging	Het
Asap3	T	C	4: 135,965,722 (GRCm39)	S411P	probably benign	Het
Atxn1l	C	T	8: 110,458,462 (GRCm39)	G600D	probably damaging	Het
Brd3	A	T	2: 27,352,558 (GRCm39)	M124K	probably benign	Het
Bsx	A	G	9: 40,785,484 (GRCm39)	N4S	probably damaging	Het
Ccdc125	T	C	13: 100,814,552 (GRCm39)	I44T	probably benign	Het
Ccdc141	G	A	2: 76,879,963 (GRCm39)	T620I	probably benign	Het
Ccdc178	T	A	18: 22,157,809 (GRCm39)	I550F	probably benign	Het
Ccdc77	G	T	6: 120,318,962 (GRCm39)	T163N	probably damaging	Het
Cd55	A	T	1: 130,380,273 (GRCm39)	I235K	probably benign	Het
Cdc123	A	T	2: 5,826,174 (GRCm39)	M118K	possibly damaging	Het
Cep192	A	T	18: 67,951,958 (GRCm39)	K378*	probably null	Het
Chd7	C	T	4: 8,850,812 (GRCm39)	R1733C	probably damaging	Het
Crybg2	A	T	4: 133,792,766 (GRCm39)	S134C	possibly damaging	Het
Cyp2d26	A	G	15: 82,676,907 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,299 (GRCm39)		probably null	Het
Dyrk2	A	T	10: 118,696,922 (GRCm39)	V112E	probably benign	Het
Eppk1	A	G	15: 75,994,598 (GRCm39)	L761P	probably benign	Het
Evpl	T	C	11: 116,114,489 (GRCm39)	K1067R	probably benign	Het
Fancm	C	A	12: 65,171,947 (GRCm39)	D1862E	probably damaging	Het
Fhl2	A	G	1: 43,167,571 (GRCm39)	V174A	probably damaging	Het
Gemin4	A	T	11: 76,102,656 (GRCm39)	C702S	probably damaging	Het
Ggnbp2	T	A	11: 84,760,767 (GRCm39)	D10V	possibly damaging	Het
Glul	T	C	1: 153,778,769 (GRCm39)	V26A	probably benign	Het
Gml2	A	G	15: 74,696,089 (GRCm39)	N161S	probably benign	Het
Gnao1	C	A	8: 94,682,795 (GRCm39)	T327K	probably damaging	Het
Gpr179	A	G	11: 97,227,124 (GRCm39)	V1677A	possibly damaging	Het
Greb1l	A	T	18: 10,544,450 (GRCm39)	H1348L	probably benign	Het
Grm8	T	C	6: 28,126,030 (GRCm39)	H32R	probably benign	Het
Hk2	T	A	6: 82,716,627 (GRCm39)	M302L	probably benign	Het
Hnrnpm	C	A	17: 33,877,884 (GRCm39)	M333I	probably benign	Het
Hsd3b1	A	G	3: 98,760,223 (GRCm39)	I256T	probably damaging	Het
Irx5	G	A	8: 93,087,327 (GRCm39)	G420R	probably damaging	Het
Krt87	A	G	15: 101,331,901 (GRCm39)	V279A	probably benign	Het
Lamb2	G	A	9: 108,363,365 (GRCm39)	S848N	probably benign	Het
Lypd10	A	T	7: 24,413,203 (GRCm39)	H174L	probably benign	Het
Mc1r	A	T	8: 124,135,116 (GRCm39)	T290S	probably benign	Het
Or10d4	A	T	9: 39,580,376 (GRCm39)	T8S	probably benign	Het
Or52n2c	A	T	7: 104,574,146 (GRCm39)	V275D	probably benign	Het
Or52z1	A	T	7: 103,436,729 (GRCm39)	C252S	possibly damaging	Het
Or6c202	T	A	10: 128,996,233 (GRCm39)	T207S	probably damaging	Het
Pex6	T	C	17: 47,022,975 (GRCm39)	S184P	probably damaging	Het
Pglyrp3	A	T	3: 91,933,762 (GRCm39)	S136C	probably null	Het
Pomt2	G	T	12: 87,156,790 (GRCm39)	T782K	probably benign	Het
Ppfibp2	A	G	7: 107,285,063 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,765,019 (GRCm39)	H587R	probably damaging	Het
Prp2	A	G	6: 132,576,932 (GRCm39)	Q73R	unknown	Het
Psmb4	T	C	3: 94,793,435 (GRCm39)	N149D	probably benign	Het
Ptprj	A	T	2: 90,301,481 (GRCm39)	I217N	possibly damaging	Het
Rasal3	A	G	17: 32,611,736 (GRCm39)	F797S	possibly damaging	Het
Rsrp1	T	A	4: 134,652,610 (GRCm39)	M188K	probably damaging	Het
Senp8	A	G	9: 59,644,499 (GRCm39)	I219T	probably damaging	Het
Serpinb10	A	T	1: 107,468,630 (GRCm39)	N91I	probably damaging	Het
Skint4	C	T	4: 111,975,264 (GRCm39)	R75C	probably damaging	Het
Slc25a48	C	A	13: 56,612,825 (GRCm39)	A241E	probably damaging	Het
Slc39a6	C	A	18: 24,736,811 (GRCm39)		probably benign	Het
Smarcc1	G	A	9: 110,002,972 (GRCm39)	R354H	probably damaging	Het
Spata21	G	C	4: 140,838,755 (GRCm39)		probably null	Het
Sptbn2	A	G	19: 4,796,724 (GRCm39)	E1774G	possibly damaging	Het
Tep1	A	T	14: 51,082,894 (GRCm39)	F1038Y	possibly damaging	Het
Thbs2	T	A	17: 14,899,963 (GRCm39)	D638V	probably benign	Het
Tmem161a	G	T	8: 70,627,047 (GRCm39)	C33F	probably damaging	Het
Trim47	T	C	11: 116,000,926 (GRCm39)	S41G	probably benign	Het
Trim56	T	A	5: 137,143,429 (GRCm39)	H29L	probably benign	Het
Ugt2b35	T	A	5: 87,156,064 (GRCm39)	H385Q	probably damaging	Het
Ugt2b37	T	A	5: 87,390,243 (GRCm39)	H401L	probably benign	Het
Usp44	A	C	10: 93,682,365 (GRCm39)	T272P	probably damaging	Het
Usp46	C	T	5: 74,189,897 (GRCm39)	E156K	probably benign	Het
Vmn1r232	T	C	17: 21,134,109 (GRCm39)	K164E	probably benign	Het
Zan	T	A	5: 137,385,217 (GRCm39)	N5072I	unknown	Het
Zfp318	T	C	17: 46,723,576 (GRCm39)	S1860P	probably benign	Het
Zfp616	C	T	11: 73,975,710 (GRCm39)	R660W	probably benign	Het
Zfp870	C	T	17: 33,102,679 (GRCm39)	V217I	possibly 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
R1184:Pik3r1	UTSW	13	101,822,866 (GRCm39)	splice site	probably null
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
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'- TTTTGAAGAACCCGGAGCAAC -3'
(R):5'- AGCCCATTCTCTGAACTCAC -3'

Sequencing Primer
(F):5'- CCCGGAGCAACAGGAAGC -3'
(R):5'- CACTTTCTCTTAAAACGTAAACTCGG -3'

Posted On

2021-04-30