Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Pik3r1'

76918

Institutional Source

Beutler Lab

Gene Symbol

Pik3r1

Ensembl Gene

ENSMUSG00000041417

Gene Name

phosphoinositide-3-kinase regulatory subunit 1

Synonyms

p55alpha, p85alpha, PI3K, p50alpha

MMRRC Submission

038967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101680563-101768217 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101690523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 326 (M326K)

Ref Sequence

ENSEMBL: ENSMUSP00000056774 (fasta)

Gene Model

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

AlphaFold

P26450

Predicted Effect

probably benign
Transcript: ENSMUST00000035532
AA Change: M56K

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

SMART Domains

Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: M56K

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 benign
Transcript: ENSMUST00000055518
AA Change: M326K

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: M326K

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
AA Change: M26K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140312
Gene: ENSMUSG00000041417
AA Change: M26K

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
AA Change: M5K

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

SMART Domains

Protein: ENSMUSP00000140256
Gene: ENSMUSG00000041417
AA Change: M5K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190171

Meta Mutation Damage Score

0.0721

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	A	4: 107,890,129	L6Q	probably damaging	Het
1700001F09Rik	A	T	14: 43,345,493		probably null	Het
Abca8a	T	A	11: 110,042,988	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,798,516		probably null	Het
Adamts16	A	T	13: 70,738,829	C979S	probably damaging	Het
Agap2	T	A	10: 127,085,150	D523E	unknown	Het
Ankfy1	T	A	11: 72,760,296	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,994,678	S379G	probably null	Het
Arhgap40	T	C	2: 158,547,790	S625P	probably benign	Het
Armc12	G	C	17: 28,538,766	A291P	probably damaging	Het
Armc9	A	G	1: 86,202,505	N524D	probably damaging	Het
Col12a1	G	T	9: 79,638,485	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,047,635	N277S	probably benign	Het
E130311K13Rik	A	T	3: 63,920,298	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,722,668	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,494,090	E58G	probably damaging	Het
Fam217b	T	A	2: 178,420,909	V222E	probably benign	Het
Fat1	T	A	8: 45,040,555	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,423,901		probably benign	Het
Hltf	A	T	3: 20,106,446	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,569,499		probably benign	Het
Isg15	C	T	4: 156,199,939	R44H	probably benign	Het
Itga4	C	T	2: 79,279,153	T232I	probably benign	Het
Kntc1	C	A	5: 123,796,104	H1399Q	probably benign	Het
Lig1	A	C	7: 13,299,069	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,454,231	C29F	probably damaging	Het
Mtmr10	T	C	7: 64,300,615	I136T	possibly damaging	Het
Naip1	A	G	13: 100,426,096	Y854H	probably benign	Het
Olfr770	T	C	10: 129,133,526	N81D	possibly damaging	Het
Pcdh9	G	A	14: 93,886,757	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,615,630		probably benign	Het
Phgdh	A	G	3: 98,334,549	V83A	probably damaging	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,076,177	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,529,264	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,364,956	T326A	probably damaging	Het
Prr22	A	T	17: 56,771,072	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,865,470		probably null	Het
Rasal2	A	G	1: 157,158,696	S766P	probably damaging	Het
Shmt1	T	C	11: 60,792,976	T337A	probably benign	Het
St5	G	T	7: 109,525,620	R1068S	possibly damaging	Het
Tbc1d4	A	T	14: 101,449,209	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,946,343	V1126A	probably benign	Het
Tep1	A	T	14: 50,829,230	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,789,561	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,370,484	I425V	probably benign	Het
Ubr3	T	C	2: 69,951,421		probably benign	Het
Ubxn7	T	A	16: 32,381,763		probably benign	Het
Vmn2r13	A	G	5: 109,156,847	S573P	probably damaging	Het
Wdfy3	A	T	5: 101,957,388	V191E	probably damaging	Het
Zdhhc3	A	T	9: 123,083,623	C153*	probably null	Het
Zfp407	A	T	18: 84,209,022	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,209,346	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,548	I227N	unknown	Het

Other mutations in Pik3r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Pik3r1	APN	13	101690536	start codon destroyed	probably benign
IGL00484:Pik3r1	APN	13	101701747	missense	probably benign	0.08
IGL00911:Pik3r1	APN	13	101757661	utr 5 prime	probably benign
IGL01620:Pik3r1	APN	13	101686220	missense	probably damaging	1.00
IGL01872:Pik3r1	APN	13	101689117	missense	probably benign	0.01
IGL02544:Pik3r1	APN	13	101687276	missense	probably damaging	1.00
IGL02959:Pik3r1	APN	13	101757529	missense	probably benign	0.02
anubis	UTSW	13	101702776	nonsense	probably null
Astro_boy	UTSW	13	101701732	missense	probably damaging	1.00
Pennywhistle	UTSW	13	101689406	missense	probably damaging	0.96
Rocket	UTSW	13	101689444	missense	probably damaging	1.00
Starburst	UTSW	13	101757658	start codon destroyed	probably null	0.99
R0635:Pik3r1	UTSW	13	101757418	missense	probably benign
R0751:Pik3r1	UTSW	13	101686358	splice site	probably null
R0845:Pik3r1	UTSW	13	101686264	missense	probably benign	0.45
R0891:Pik3r1	UTSW	13	101701466	missense	probably benign
R1066:Pik3r1	UTSW	13	101688663	missense	probably damaging	1.00
R1184:Pik3r1	UTSW	13	101686358	splice site	probably null
R1735:Pik3r1	UTSW	13	101686374	missense	probably damaging	1.00
R2474:Pik3r1	UTSW	13	101702776	nonsense	probably null
R3015:Pik3r1	UTSW	13	101687263	missense	probably damaging	1.00
R3419:Pik3r1	UTSW	13	101692215	missense	probably benign	0.17
R3876:Pik3r1	UTSW	13	101684957	missense	probably benign	0.01
R3964:Pik3r1	UTSW	13	101688685	missense	possibly damaging	0.75
R4175:Pik3r1	UTSW	13	101701732	missense	probably damaging	1.00
R4175:Pik3r1	UTSW	13	101701733	missense	probably benign	0.25
R4422:Pik3r1	UTSW	13	101694384	missense	probably benign
R4890:Pik3r1	UTSW	13	101757610	missense	probably damaging	1.00
R5038:Pik3r1	UTSW	13	101689444	missense	probably damaging	1.00
R5117:Pik3r1	UTSW	13	101692236	missense	probably benign
R6066:Pik3r1	UTSW	13	101686320	missense	possibly damaging	0.72
R6254:Pik3r1	UTSW	13	101689406	missense	possibly damaging	0.89
R7421:Pik3r1	UTSW	13	101689136	missense	probably damaging	1.00
R7507:Pik3r1	UTSW	13	101708982	missense	probably benign	0.00
R7538:Pik3r1	UTSW	13	101689406	missense	probably damaging	0.96
R7605:Pik3r1	UTSW	13	101702838	missense	probably benign
R7739:Pik3r1	UTSW	13	101709697	missense	probably benign	0.01
R8695:Pik3r1	UTSW	13	101757554	missense	probably benign	0.40
R9146:Pik3r1	UTSW	13	101688628	splice site	probably benign
R9315:Pik3r1	UTSW	13	101757658	start codon destroyed	probably null	0.99
R9678:Pik3r1	UTSW	13	101702781	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAATGTCCTATGTCACCCAGCAC -3'
(R):5'- TGAAATTTTCTCCCACAGCCAGCC -3'

Sequencing Primer
(F):5'- TGTCATCTTTGGAAGAGACCC -3'
(R):5'- GGCACATGAAATTATGAATTCCTGG -3'

Posted On

2013-10-16