Mutagenetix > Incidental Mutation

Incidental Mutation 'R2319:Pik3cg'

245593

Institutional Source

Beutler Lab

Gene Symbol

Pik3cg

Ensembl Gene

ENSMUSG00000020573

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

Synonyms

PI3K, 5830428L06Rik, p110gamma, PI(3)Kgamma, PI3Kgamma

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2319 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32223472-32258658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32226735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1051 (I1051V)

Ref Sequence

ENSEMBL: ENSMUSP00000151400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053215] [ENSMUST00000085469] [ENSMUST00000156904] [ENSMUST00000217915] [ENSMUST00000220366]

AlphaFold

Q9JHG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053215
AA Change: I1051V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: I1051V

Domain	Start	End	E-Value	Type
PI3K_rbd	203	312	3.56e-43	SMART
PI3K_C2	349	452	1.15e-28	SMART
PI3Ka	541	733	4.41e-89	SMART
PI3Kc	829	1094	3.9e-131	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085469
AA Change: I1051V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: I1051V

Domain	Start	End	E-Value	Type
PI3K_rbd	203	312	3.56e-43	SMART
PI3K_C2	349	452	1.15e-28	SMART
PI3Ka	541	733	4.41e-89	SMART
PI3Kc	829	1094	3.9e-131	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000156904
AA Change: I1051V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: I1051V

Domain	Start	End	E-Value	Type
PI3K_rbd	203	312	3.56e-43	SMART
PI3K_C2	349	452	1.15e-28	SMART
PI3Ka	541	733	4.41e-89	SMART
PI3Kc	829	1094	3.9e-131	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218848

Predicted Effect

probably damaging
Transcript: ENSMUST00000220366
AA Change: I1051V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display defects in thymocyte development, T cell activation, and neutrophil migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Atp11a	T	A	8: 12,897,505 (GRCm39)	H273Q	probably damaging	Het
Ccdc186	A	G	19: 56,785,999 (GRCm39)	S679P	possibly damaging	Het
Chac2	T	A	11: 30,936,252 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,814,417 (GRCm39)	T532A	unknown	Het
Dsg1c	A	T	18: 20,408,235 (GRCm39)	Y428F	probably damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Gm7489	A	T	15: 53,748,445 (GRCm39)		probably benign	Het
Gnat3	T	G	5: 18,224,624 (GRCm39)	D341E	probably benign	Het
Lrpprc	G	A	17: 85,033,818 (GRCm39)	P1020S	probably benign	Het
Niban3	T	C	8: 72,055,408 (GRCm39)	F273L	probably benign	Het
Nlrp4a	A	G	7: 26,149,319 (GRCm39)	S309G	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Rmnd1	A	G	10: 4,372,099 (GRCm39)	V200A	possibly damaging	Het
Rrbp1	T	C	2: 143,799,479 (GRCm39)	N1076S	probably benign	Het
Rtn4	A	G	11: 29,657,154 (GRCm39)	D436G	probably benign	Het
Spta1	A	G	1: 174,006,222 (GRCm39)		probably null	Het
Srsf3	G	A	17: 29,257,520 (GRCm39)	R88Q	unknown	Het
Stxbp2	T	C	8: 3,683,834 (GRCm39)	I90T	possibly damaging	Het
Tnr	T	A	1: 159,677,618 (GRCm39)	M1K	probably null	Het
Tns3	G	A	11: 8,491,200 (GRCm39)	S119L	probably damaging	Het
Vmn1r2	A	G	4: 3,172,083 (GRCm39)	M1V	probably null	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het

Other mutations in Pik3cg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Pik3cg	APN	12	32,255,148 (GRCm39)	missense	probably damaging	1.00
IGL02182:Pik3cg	APN	12	32,255,272 (GRCm39)	missense	possibly damaging	0.90
IGL02273:Pik3cg	APN	12	32,226,809 (GRCm39)	missense	probably damaging	1.00
IGL02312:Pik3cg	APN	12	32,244,820 (GRCm39)	missense	possibly damaging	0.55
IGL02752:Pik3cg	APN	12	32,254,262 (GRCm39)	missense	probably damaging	1.00
IGL03107:Pik3cg	APN	12	32,250,594 (GRCm39)	missense	probably damaging	1.00
IGL03139:Pik3cg	APN	12	32,242,222 (GRCm39)	missense	probably damaging	1.00
IGL03267:Pik3cg	APN	12	32,255,307 (GRCm39)	missense	possibly damaging	0.94
IGL03367:Pik3cg	APN	12	32,242,120 (GRCm39)	missense	probably benign	0.01
PIT4283001:Pik3cg	UTSW	12	32,255,864 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Pik3cg	UTSW	12	32,254,983 (GRCm39)	missense	probably damaging	0.99
PIT4514001:Pik3cg	UTSW	12	32,254,902 (GRCm39)	missense	probably damaging	1.00
R0112:Pik3cg	UTSW	12	32,245,714 (GRCm39)	splice site	probably benign
R0145:Pik3cg	UTSW	12	32,254,321 (GRCm39)	missense	probably benign	0.20
R0279:Pik3cg	UTSW	12	32,254,790 (GRCm39)	missense	probably damaging	1.00
R0471:Pik3cg	UTSW	12	32,244,770 (GRCm39)	missense	probably damaging	0.99
R0494:Pik3cg	UTSW	12	32,254,545 (GRCm39)	missense	possibly damaging	0.84
R0573:Pik3cg	UTSW	12	32,247,196 (GRCm39)	missense	probably damaging	1.00
R0631:Pik3cg	UTSW	12	32,255,202 (GRCm39)	missense	probably benign
R0699:Pik3cg	UTSW	12	32,247,341 (GRCm39)	splice site	probably benign
R0826:Pik3cg	UTSW	12	32,245,672 (GRCm39)	missense	possibly damaging	0.78
R1076:Pik3cg	UTSW	12	32,245,713 (GRCm39)	splice site	probably benign
R1101:Pik3cg	UTSW	12	32,245,645 (GRCm39)	missense	probably null	0.98
R1459:Pik3cg	UTSW	12	32,254,983 (GRCm39)	missense	probably damaging	0.99
R1625:Pik3cg	UTSW	12	32,244,741 (GRCm39)	missense	probably damaging	1.00
R1971:Pik3cg	UTSW	12	32,242,152 (GRCm39)	missense	probably damaging	1.00
R1992:Pik3cg	UTSW	12	32,254,024 (GRCm39)	missense	possibly damaging	0.83
R2109:Pik3cg	UTSW	12	32,243,709 (GRCm39)	missense	possibly damaging	0.75
R3421:Pik3cg	UTSW	12	32,254,738 (GRCm39)	missense	probably damaging	1.00
R3422:Pik3cg	UTSW	12	32,254,738 (GRCm39)	missense	probably damaging	1.00
R3740:Pik3cg	UTSW	12	32,255,223 (GRCm39)	missense	probably damaging	1.00
R3777:Pik3cg	UTSW	12	32,244,708 (GRCm39)	missense	probably damaging	0.98
R4300:Pik3cg	UTSW	12	32,226,671 (GRCm39)	missense	probably damaging	1.00
R4395:Pik3cg	UTSW	12	32,254,091 (GRCm39)	missense	probably damaging	1.00
R4725:Pik3cg	UTSW	12	32,243,596 (GRCm39)	critical splice donor site	probably null
R4785:Pik3cg	UTSW	12	32,255,198 (GRCm39)	missense	probably damaging	0.97
R4809:Pik3cg	UTSW	12	32,254,080 (GRCm39)	missense	possibly damaging	0.46
R4981:Pik3cg	UTSW	12	32,254,103 (GRCm39)	missense	possibly damaging	0.77
R5033:Pik3cg	UTSW	12	32,249,195 (GRCm39)	splice site	probably null
R5161:Pik3cg	UTSW	12	32,254,977 (GRCm39)	missense	possibly damaging	0.92
R5806:Pik3cg	UTSW	12	32,254,952 (GRCm39)	missense	possibly damaging	0.88
R6136:Pik3cg	UTSW	12	32,254,358 (GRCm39)	missense	probably benign	0.00
R6746:Pik3cg	UTSW	12	32,244,757 (GRCm39)	missense	probably damaging	1.00
R6895:Pik3cg	UTSW	12	32,254,346 (GRCm39)	missense	possibly damaging	0.87
R7000:Pik3cg	UTSW	12	32,242,128 (GRCm39)	missense	probably damaging	1.00
R7089:Pik3cg	UTSW	12	32,226,845 (GRCm39)	missense	probably benign	0.00
R7113:Pik3cg	UTSW	12	32,255,666 (GRCm39)	missense	probably damaging	0.98
R7372:Pik3cg	UTSW	12	32,247,196 (GRCm39)	missense	probably damaging	1.00
R7483:Pik3cg	UTSW	12	32,245,647 (GRCm39)	missense	probably damaging	0.99
R7596:Pik3cg	UTSW	12	32,254,740 (GRCm39)	missense	probably damaging	1.00
R7771:Pik3cg	UTSW	12	32,254,013 (GRCm39)	missense	probably benign
R7910:Pik3cg	UTSW	12	32,250,516 (GRCm39)	missense	probably benign	0.16
R7974:Pik3cg	UTSW	12	32,254,031 (GRCm39)	missense	probably benign	0.00
R8084:Pik3cg	UTSW	12	32,245,687 (GRCm39)	missense	probably benign	0.30
R8352:Pik3cg	UTSW	12	32,243,639 (GRCm39)	missense	probably damaging	1.00
R8452:Pik3cg	UTSW	12	32,243,639 (GRCm39)	missense	probably damaging	1.00
R8720:Pik3cg	UTSW	12	32,243,688 (GRCm39)	missense	probably benign	0.09
R8757:Pik3cg	UTSW	12	32,255,006 (GRCm39)	missense	probably damaging	1.00
R8911:Pik3cg	UTSW	12	32,247,257 (GRCm39)	missense	probably benign
R9052:Pik3cg	UTSW	12	32,245,708 (GRCm39)	missense	possibly damaging	0.91
R9166:Pik3cg	UTSW	12	32,242,213 (GRCm39)	missense	probably damaging	1.00
R9209:Pik3cg	UTSW	12	32,247,312 (GRCm39)	missense	probably damaging	0.99
R9709:Pik3cg	UTSW	12	32,226,687 (GRCm39)	missense	probably benign	0.17
Z1176:Pik3cg	UTSW	12	32,254,794 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACATTGCTTTGGGCCCTAGC -3'
(R):5'- CCTTGATCGCAGCCAAAAGG -3'

Sequencing Primer
(F):5'- TAGCACCACATATCAAGCGGAGTG -3'
(R):5'- CAGAGCATTTAAAGTCCAGCTAG -3'

Posted On

2014-10-30