Mutagenetix > Incidental Mutation

Incidental Mutation 'R9246:Pik3c3'

701333

Institutional Source

Beutler Lab

Gene Symbol

Pik3c3

Ensembl Gene

ENSMUSG00000033628

Gene Name

phosphatidylinositol 3-kinase catalytic subunit type 3

Synonyms

5330434F23Rik, Vps34

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9246 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30405800-30481179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30466364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 805 (A805D)

Ref Sequence

ENSEMBL: ENSMUSP00000111479 (fasta)

Gene Model

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

AlphaFold

Q6PF93

Predicted Effect

probably damaging
Transcript: ENSMUST00000091978
AA Change: A805D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: A805D

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 benign
Transcript: ENSMUST00000115811

SMART Domains

Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628

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

probably damaging
Transcript: ENSMUST00000115812
AA Change: A805D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: A805D

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,279,961 (GRCm39)	T314I	probably benign	Het
Abca7	G	A	10: 79,838,535 (GRCm39)	S603N	probably damaging	Het
Abcc2	T	C	19: 43,786,882 (GRCm39)	F168L	probably benign	Het
Abcc8	T	C	7: 45,774,289 (GRCm39)	T764A	probably benign	Het
Acot4	A	C	12: 84,090,097 (GRCm39)	I265L	probably benign	Het
Adrb2	C	A	18: 62,312,226 (GRCm39)	A200S	probably damaging	Het
Atp2c2	G	T	8: 120,456,989 (GRCm39)	R197L	probably damaging	Het
Bmpr1a	T	C	14: 34,156,664 (GRCm39)	T121A	probably benign	Het
Brwd1	A	T	16: 95,804,016 (GRCm39)	S2051R	probably benign	Het
Card10	T	C	15: 78,673,036 (GRCm39)	E547G	possibly damaging	Het
Cbln1	A	T	8: 88,197,048 (GRCm39)	I139N	probably damaging	Het
Ccdc86	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	19: 10,926,162 (GRCm39)		probably benign	Het
Cdh16	C	T	8: 105,344,602 (GRCm39)	D510N	probably benign	Het
Cdh2	G	A	18: 16,781,654 (GRCm39)	Q146*	probably null	Het
Cdhr1	T	G	14: 36,801,654 (GRCm39)	K763T	possibly damaging	Het
Cfl1	G	C	19: 5,543,634 (GRCm39)	G204R	probably damaging	Het
Clcn6	A	T	4: 148,113,866 (GRCm39)	V64E	probably benign	Het
Col4a4	G	A	1: 82,430,956 (GRCm39)	P1649S	unknown	Het
Ctnna1	T	A	18: 35,356,562 (GRCm39)	N410K	probably benign	Het
Dhx34	A	G	7: 15,937,162 (GRCm39)	F845S	probably damaging	Het
Dnah7c	T	G	1: 46,571,934 (GRCm39)	N802K	possibly damaging	Het
Dnmt3a	T	C	12: 3,949,204 (GRCm39)	S492P	probably damaging	Het
Fhit	C	A	14: 10,421,494 (GRCm38)		probably null	Het
Fzd2	A	T	11: 102,496,749 (GRCm39)	I398F	possibly damaging	Het
Gm9195	A	G	14: 72,710,314 (GRCm39)	S457P	probably benign	Het
Gnao1	A	G	8: 94,676,967 (GRCm39)	K211E		Het
Gzme	T	C	14: 56,356,198 (GRCm39)	D100G	probably benign	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Hoxd4	G	A	2: 74,558,747 (GRCm39)	C190Y	possibly damaging	Het
Hr	T	A	14: 70,808,915 (GRCm39)	V1097E	probably damaging	Het
Iqca1l	T	G	5: 24,753,969 (GRCm39)	E430A	probably benign	Het
Kdm3b	A	T	18: 34,941,480 (GRCm39)	K524*	probably null	Het
Kif18a	A	G	2: 109,163,819 (GRCm39)	T723A	probably benign	Het
Kif1a	A	G	1: 93,005,501 (GRCm39)	V91A	probably damaging	Het
Krtap19-2	AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA	AAAGCCTCCA	16: 88,670,859 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,710,959 (GRCm39)	V1559M	probably damaging	Het
Maco1	A	G	4: 134,565,242 (GRCm39)	V47A	possibly damaging	Het
Msto1	A	T	3: 88,819,411 (GRCm39)	I160N	probably damaging	Het
Muc5ac	C	A	7: 141,364,215 (GRCm39)	Q2509K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1ad8	T	A	11: 50,897,891 (GRCm39)	F31I	probably damaging	Het
Or2ag2b	C	T	7: 106,417,938 (GRCm39)	T216I	probably benign	Het
Or52ad1	C	T	7: 102,995,908 (GRCm39)	V76I	probably damaging	Het
Or7e170	T	C	9: 19,795,686 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,222 (GRCm39)	M136K	probably damaging	Het
Pnn	A	G	12: 59,116,929 (GRCm39)	Q167R	probably damaging	Het
Pogk	G	T	1: 166,226,380 (GRCm39)	H590Q	probably damaging	Het
Prkcd	A	G	14: 30,327,432 (GRCm39)	L251P	probably damaging	Het
Prrc1	T	A	18: 57,496,208 (GRCm39)	V53E	probably benign	Het
Ripor1	T	C	8: 106,345,522 (GRCm39)	F856S	unknown	Het
Rnf31	G	A	14: 55,833,698 (GRCm39)	A569T	probably benign	Het
Robo1	T	A	16: 72,769,178 (GRCm39)	D532E	probably benign	Het
Sh2d6	T	A	6: 72,497,594 (GRCm39)	K3*	probably null	Het
Slc22a27	T	C	19: 7,874,209 (GRCm39)	T289A	probably benign	Het
Speg	T	C	1: 75,361,498 (GRCm39)	S171P	probably damaging	Het
Stag1	T	A	9: 100,770,329 (GRCm39)	F622I	probably benign	Het
Stxbp1	T	C	2: 32,679,586 (GRCm39)	D589G	possibly damaging	Het
Syne1	T	C	10: 5,255,706 (GRCm39)	I2391M	probably benign	Het
Sytl2	A	G	7: 90,007,384 (GRCm39)	M49V	probably benign	Het
Tmem185b	T	C	1: 119,454,368 (GRCm39)	V43A	probably damaging	Het
Trappc8	A	T	18: 20,993,590 (GRCm39)	M499K	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,593 (GRCm39)	S159R	possibly damaging	Het
Vmn1r62	A	G	7: 5,678,628 (GRCm39)	Y103C	probably damaging	Het
Vmn1r65	C	T	7: 6,011,769 (GRCm39)	C155Y	possibly damaging	Het
Vmn2r112	G	A	17: 22,824,088 (GRCm39)	V448I	probably benign	Het
Zfp592	A	T	7: 80,691,529 (GRCm39)	D1236V	probably benign	Het
Zfp827	T	C	8: 79,803,132 (GRCm39)	V568A	possibly damaging	Het
Zscan4-ps3	A	T	7: 11,346,320 (GRCm39)	I147F	probably damaging	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
R5358:Pik3c3	UTSW	18	30,456,597 (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
R9311:Pik3c3	UTSW	18	30,445,666 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CGACTGTGAGACTGACTGAG -3'
(R):5'- TGGTTTGCCAAATCTCCCAC -3'

Sequencing Primer
(F):5'- AGACTGACTGAGTTTCTTGTTCACAC -3'
(R):5'- CAGCATCTCAACTGGGAGGTTAC -3'

Posted On

2022-03-25