Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:Pik3c3'

424213

Institutional Source

Beutler Lab

Gene Symbol

Pik3c3

Ensembl Gene

ENSMUSG00000033628

Gene Name

phosphatidylinositol 3-kinase catalytic subunit type 3

Synonyms

5330434F23Rik, Vps34

MMRRC Submission

042937-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30405800-30481179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30456597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 709 (P709H)

Ref Sequence

ENSEMBL: ENSMUSP00000111478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091978] [ENSMUST00000115811] [ENSMUST00000115812] [ENSMUST00000131405]

AlphaFold

Q6PF93

Predicted Effect

probably damaging
Transcript: ENSMUST00000091978
AA Change: P709H

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

SMART Domains

Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: P709H

Domain	Start	End	E-Value	Type
C2	20	141	4.44e0	SMART
PI3K_C2	21	130	1.43e-42	SMART
PI3Ka	283	530	3.08e-111	SMART
PI3Kc	632	848	1.02e-84	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115811
AA Change: P709H

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

SMART Domains

Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628
AA Change: P709H

Domain	Start	End	E-Value	Type
C2	20	141	4.44e0	SMART
PI3K_C2	21	130	1.43e-42	SMART
PI3Ka	283	530	3.08e-111	SMART
PI3Kc	632	756	5.33e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115812
AA Change: P709H

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: P709H

Domain	Start	End	E-Value	Type
C2	20	141	4.44e0	SMART
PI3K_C2	21	130	1.43e-42	SMART
PI3Ka	283	530	3.08e-111	SMART
PI3Kc	632	884	1.21e-118	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131405

SMART Domains

Protein: ENSMUSP00000128927
Gene: ENSMUSG00000033628

Domain	Start	End	E-Value	Type
C2	20	141	4.44e0	SMART
PI3K_C2	21	130	1.43e-42	SMART
PI3Ka	283	506	1.78e-84	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display embryonic lethality between implantation and placentation, arrest prior to gastrulation, and show reduced cell proliferation. Mice homozygous for a conditional allele activated in T cells exhibit impaired naive Tcell homeostasis and mitophagy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,849,165 (GRCm39)	V1842A	probably damaging	Het
Abi3	A	T	11: 95,732,934 (GRCm39)	F13L	probably benign	Het
Adgre4	A	G	17: 56,125,758 (GRCm39)	K538R	probably benign	Het
Bcas3	C	T	11: 85,342,581 (GRCm39)	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,886,538 (GRCm39)	T376A	probably benign	Het
Ceacam18	C	A	7: 43,286,497 (GRCm39)	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,709,224 (GRCm39)	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,989,148 (GRCm39)		probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Chrm2	A	G	6: 36,500,290 (GRCm39)	K49R	probably damaging	Het
Ciao2b	T	C	8: 105,368,282 (GRCm39)	N14S	probably damaging	Het
Daam1	T	A	12: 71,999,233 (GRCm39)	L623*	probably null	Het
Ddx31	T	A	2: 28,753,782 (GRCm39)	C448S	probably damaging	Het
Dnah7a	A	G	1: 53,586,331 (GRCm39)	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,965,928 (GRCm39)	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,057,432 (GRCm39)	R247H	probably damaging	Het
Exoc4	A	G	6: 33,242,934 (GRCm39)	E49G	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxj3	A	G	4: 119,476,596 (GRCm39)	E258G	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Helz2	C	T	2: 180,877,321 (GRCm39)	E1106K	probably damaging	Het
Hip1	G	T	5: 135,465,252 (GRCm39)	S385R	probably benign	Het
Igsf9	C	T	1: 172,312,078 (GRCm39)	T8I	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Katnal2	A	G	18: 77,105,190 (GRCm39)	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 105,918,417 (GRCm39)	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,535,432 (GRCm39)	R570*	probably null	Het
Kif16b	T	A	2: 142,582,889 (GRCm39)	R545S	probably damaging	Het
Kif21b	T	A	1: 136,100,030 (GRCm39)	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,730,571 (GRCm39)		probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mknk2	T	C	10: 80,507,597 (GRCm39)	T60A	probably benign	Het
Ncoa6	T	C	2: 155,248,907 (GRCm39)	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,704,083 (GRCm39)	T109P	probably damaging	Het
Nup214	C	A	2: 31,907,158 (GRCm39)	S995Y	unknown	Het
Or2a5	A	T	6: 42,873,454 (GRCm39)	Q23L	probably benign	Het
Pclo	T	A	5: 14,762,750 (GRCm39)	L456*	probably null	Het
Pde5a	A	G	3: 122,541,825 (GRCm39)	D105G	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rab3c	T	C	13: 110,198,497 (GRCm39)	N179S	possibly damaging	Het
Setdb2	T	A	14: 59,646,885 (GRCm39)	R559S	probably benign	Het
Sf3b1	A	G	1: 55,042,469 (GRCm39)	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,712,155 (GRCm39)	W228L	probably benign	Het
Slc8a2	T	G	7: 15,891,228 (GRCm39)	I750S	probably damaging	Het
Slco2b1	T	A	7: 99,309,251 (GRCm39)	I194L	unknown	Het
Smarcd1	C	T	15: 99,601,128 (GRCm39)	Q45*	probably null	Het
Srcap	T	G	7: 127,139,492 (GRCm39)	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330 (GRCm39)	N9Y	probably damaging	Het
St7	T	C	6: 17,819,317 (GRCm39)	S74P	probably damaging	Het
Stxbp5l	T	A	16: 36,994,688 (GRCm39)	E739V	probably damaging	Het
Sun3	T	A	11: 8,981,496 (GRCm39)	Q36L	possibly damaging	Het
Tbc1d32	T	C	10: 56,047,033 (GRCm39)	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,296,994 (GRCm39)	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,526,939 (GRCm39)	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,376,717 (GRCm39)	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,227,949 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,903,332 (GRCm39)	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,378,292 (GRCm39)	K381E	probably benign	Het
Uaca	T	C	9: 60,778,430 (GRCm39)	V937A	probably benign	Het
Umod	C	T	7: 119,071,577 (GRCm39)	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,924,412 (GRCm39)		probably null	Het
Zbtb47	T	A	9: 121,594,661 (GRCm39)	F540Y	probably damaging	Het
Zfp644	G	A	5: 106,783,541 (GRCm39)	T1002I	probably damaging	Het
Zfp738	A	G	13: 67,819,131 (GRCm39)	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,644,771 (GRCm39)	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,361,352 (GRCm39)		probably null	Het

Other mutations in Pik3c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pik3c3	APN	18	30,436,131 (GRCm39)	splice site	probably benign
IGL00743:Pik3c3	APN	18	30,407,417 (GRCm39)	missense	probably damaging	1.00
IGL01622:Pik3c3	APN	18	30,426,102 (GRCm39)	splice site	probably benign
IGL01622:Pik3c3	APN	18	30,423,578 (GRCm39)	nonsense	probably null
IGL01623:Pik3c3	APN	18	30,426,102 (GRCm39)	splice site	probably benign
IGL01623:Pik3c3	APN	18	30,423,578 (GRCm39)	nonsense	probably null
IGL01773:Pik3c3	APN	18	30,410,155 (GRCm39)	missense	probably damaging	1.00
IGL01917:Pik3c3	APN	18	30,407,499 (GRCm39)	missense	probably damaging	1.00
IGL02033:Pik3c3	APN	18	30,445,703 (GRCm39)	missense	possibly damaging	0.85
IGL02465:Pik3c3	APN	18	30,477,113 (GRCm39)	missense	probably damaging	0.97
IGL03161:Pik3c3	APN	18	30,426,760 (GRCm39)	missense	probably benign	0.37
IGL03221:Pik3c3	APN	18	30,435,984 (GRCm39)	missense	probably benign	0.45
H8786:Pik3c3	UTSW	18	30,427,396 (GRCm39)	missense	probably damaging	0.99
R0089:Pik3c3	UTSW	18	30,436,131 (GRCm39)	splice site	probably benign
R1512:Pik3c3	UTSW	18	30,455,289 (GRCm39)	critical splice donor site	probably null
R1713:Pik3c3	UTSW	18	30,456,639 (GRCm39)	missense	possibly damaging	0.73
R1758:Pik3c3	UTSW	18	30,410,063 (GRCm39)	missense	probably damaging	1.00
R1822:Pik3c3	UTSW	18	30,477,130 (GRCm39)	critical splice donor site	probably null
R1870:Pik3c3	UTSW	18	30,426,185 (GRCm39)	critical splice donor site	probably null
R2680:Pik3c3	UTSW	18	30,477,131 (GRCm39)	critical splice donor site	probably null
R3768:Pik3c3	UTSW	18	30,466,326 (GRCm39)	missense	probably damaging	1.00
R3926:Pik3c3	UTSW	18	30,444,382 (GRCm39)	splice site	probably benign
R4154:Pik3c3	UTSW	18	30,444,336 (GRCm39)	missense	probably benign	0.35
R4293:Pik3c3	UTSW	18	30,477,043 (GRCm39)	missense	probably damaging	1.00
R4570:Pik3c3	UTSW	18	30,423,603 (GRCm39)	missense	possibly damaging	0.94
R4858:Pik3c3	UTSW	18	30,477,131 (GRCm39)	critical splice donor site	probably null
R4893:Pik3c3	UTSW	18	30,415,053 (GRCm39)	missense	probably benign	0.16
R4901:Pik3c3	UTSW	18	30,435,982 (GRCm39)	missense	possibly damaging	0.65
R5216:Pik3c3	UTSW	18	30,406,029 (GRCm39)	missense	probably damaging	1.00
R5373:Pik3c3	UTSW	18	30,445,614 (GRCm39)	missense	probably benign	0.40
R5374:Pik3c3	UTSW	18	30,445,614 (GRCm39)	missense	probably benign	0.40
R5600:Pik3c3	UTSW	18	30,444,346 (GRCm39)	missense	probably damaging	1.00
R5680:Pik3c3	UTSW	18	30,410,166 (GRCm39)	nonsense	probably null
R5965:Pik3c3	UTSW	18	30,431,633 (GRCm39)	missense	probably damaging	1.00
R6492:Pik3c3	UTSW	18	30,457,615 (GRCm39)	missense	probably damaging	1.00
R6576:Pik3c3	UTSW	18	30,475,794 (GRCm39)	intron	probably benign
R6700:Pik3c3	UTSW	18	30,449,954 (GRCm39)	missense	probably benign	0.02
R7523:Pik3c3	UTSW	18	30,426,708 (GRCm39)	missense	probably damaging	1.00
R7883:Pik3c3	UTSW	18	30,407,416 (GRCm39)	missense	probably benign	0.04
R7884:Pik3c3	UTSW	18	30,445,624 (GRCm39)	missense	probably benign	0.00
R7886:Pik3c3	UTSW	18	30,452,641 (GRCm39)	nonsense	probably null
R8075:Pik3c3	UTSW	18	30,438,082 (GRCm39)	missense	probably damaging	0.99
R9163:Pik3c3	UTSW	18	30,427,483 (GRCm39)	critical splice donor site	probably null
R9246:Pik3c3	UTSW	18	30,466,364 (GRCm39)	missense	probably damaging	1.00
R9311:Pik3c3	UTSW	18	30,445,666 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TATTACCGAGCCCTGCCATTG -3'
(R):5'- ATTTCAAAAGTCCACGGATTCC -3'

Sequencing Primer
(F):5'- AGCCCTGCCATTGCTGTG -3'
(R):5'- AAAAGTCCACGGATTCCTTTTACC -3'

Posted On

2016-08-04