Mutagenetix > Incidental Mutation

Incidental Mutation 'R0494:Pik3cg'

42685

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

MMRRC Submission

038691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32223472-32258658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32254545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 481 (V481L)

Ref Sequence

ENSEMBL: ENSMUSP00000151400 (fasta)

Gene Model

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

AlphaFold

Q9JHG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053215
AA Change: V481L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062864
Gene: ENSMUSG00000020573
AA Change: V481L

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

possibly damaging
Transcript: ENSMUST00000085469
AA Change: V481L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082596
Gene: ENSMUSG00000020573
AA Change: V481L

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

noncoding transcript
Transcript: ENSMUST00000126814

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156904
AA Change: V481L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123539
Gene: ENSMUSG00000020573
AA Change: V481L

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
AA Change: V481L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220366
AA Change: V481L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (109/112)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,402,339 (GRCm39)	I116V	probably benign	Het
Abhd18	T	C	3: 40,871,123 (GRCm39)	F94S	probably damaging	Het
Adam28	T	A	14: 68,868,241 (GRCm39)		probably benign	Het
Afg2a	G	C	3: 37,486,312 (GRCm39)	D345H	possibly damaging	Het
Amn1	A	T	6: 149,086,634 (GRCm39)		probably benign	Het
Arhgap32	T	C	9: 32,170,199 (GRCm39)	V993A	probably damaging	Het
Arhgap33	A	T	7: 30,223,921 (GRCm39)	S703T	probably damaging	Het
Arhgef1	T	C	7: 24,618,785 (GRCm39)		probably benign	Het
Atg2a	A	G	19: 6,303,407 (GRCm39)	Y1083C	probably damaging	Het
Atp2a3	T	C	11: 72,872,731 (GRCm39)	F760L	probably damaging	Het
B9d1	A	G	11: 61,403,271 (GRCm39)		probably benign	Het
Batf	C	T	12: 85,733,636 (GRCm39)		probably benign	Het
BC051019	T	A	7: 109,317,182 (GRCm39)	Y170F	probably benign	Het
Bphl	T	C	13: 34,221,754 (GRCm39)	*37Q	probably null	Het
Cab39l	T	C	14: 59,737,008 (GRCm39)	S43P	probably damaging	Het
Cad	A	G	5: 31,234,856 (GRCm39)		probably benign	Het
Cct4	T	G	11: 22,946,014 (GRCm39)	S119A	probably benign	Het
Cd163	G	A	6: 124,288,408 (GRCm39)	V280M	probably damaging	Het
Cd86	A	G	16: 36,438,999 (GRCm39)		probably benign	Het
Cdh23	G	A	10: 60,152,375 (GRCm39)		probably benign	Het
Cdhr5	A	G	7: 140,852,431 (GRCm39)	F145S	probably damaging	Het
Cdt1	T	C	8: 123,298,799 (GRCm39)	S479P	possibly damaging	Het
Ces2g	T	C	8: 105,693,199 (GRCm39)	V372A	probably benign	Het
Chrna3	T	C	9: 54,929,562 (GRCm39)	D92G	probably damaging	Het
Cndp1	A	G	18: 84,637,658 (GRCm39)	S359P	probably benign	Het
Cops4	A	G	5: 100,676,528 (GRCm39)	Q93R	probably damaging	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dmp1	A	T	5: 104,360,074 (GRCm39)	D250V	probably damaging	Het
Dnajb2	C	T	1: 75,216,278 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,899,996 (GRCm39)	T113A	possibly damaging	Het
Egln3	T	A	12: 54,250,107 (GRCm39)	I81F	probably benign	Het
Elapor2	G	A	5: 9,470,723 (GRCm39)		probably null	Het
Elovl5	T	C	9: 77,868,199 (GRCm39)	V37A	probably benign	Het
Esco1	A	T	18: 10,594,940 (GRCm39)	N115K	probably benign	Het
Fat1	A	T	8: 45,403,579 (GRCm39)	N110I	probably damaging	Het
Fezf1	T	A	6: 23,246,054 (GRCm39)	K370N	probably damaging	Het
Galnt18	T	A	7: 111,153,771 (GRCm39)	K284N	probably damaging	Het
Glt8d1	C	A	14: 30,733,580 (GRCm39)	T355K	possibly damaging	Het
Gm17455	G	A	10: 60,239,014 (GRCm39)	R93H	possibly damaging	Het
Gng8	T	A	7: 16,629,213 (GRCm39)	D46E	probably benign	Het
Gpx4	T	C	10: 79,892,011 (GRCm39)		probably benign	Het
Grk2	A	T	19: 4,341,347 (GRCm39)	N189K	probably damaging	Het
Grm5	T	C	7: 87,779,989 (GRCm39)	V1143A	probably benign	Het
Hibch	A	G	1: 52,942,055 (GRCm39)	E237G	possibly damaging	Het
Hipk2	C	T	6: 38,706,924 (GRCm39)	A682T	probably benign	Het
Hmcn1	G	T	1: 150,608,543 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,979,188 (GRCm39)	D857G	possibly damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Igsf8	A	G	1: 172,146,265 (GRCm39)	E421G	probably benign	Het
Kif26a	T	A	12: 112,145,905 (GRCm39)		probably null	Het
Klhl26	T	C	8: 70,904,251 (GRCm39)	Y519C	probably damaging	Het
Lamc1	A	C	1: 153,122,682 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,936,162 (GRCm39)	S1455T	possibly damaging	Het
Mitf	G	A	6: 97,971,390 (GRCm39)	G186S	probably benign	Het
Ms4a15	G	A	19: 10,958,722 (GRCm39)		probably benign	Het
Myo5b	A	G	18: 74,787,038 (GRCm39)	E481G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nbeal2	C	A	9: 110,456,255 (GRCm39)	V1686L	probably damaging	Het
Nedd4l	T	G	18: 65,306,092 (GRCm39)	S335A	possibly damaging	Het
Nos1	A	T	5: 118,043,539 (GRCm39)	N605Y	probably damaging	Het
Nyx	C	A	X: 13,353,508 (GRCm39)	T454K	probably benign	Het
Or52n2	A	G	7: 104,542,478 (GRCm39)	L119P	probably damaging	Het
Or8g55	T	A	9: 39,784,698 (GRCm39)	N42K	probably damaging	Het
Pcdhb12	T	A	18: 37,571,148 (GRCm39)	F765I	probably benign	Het
Pex3	C	T	10: 13,403,532 (GRCm39)	G330R	probably damaging	Het
Pfkfb1	T	C	X: 149,417,609 (GRCm39)	Y339H	probably damaging	Het
Pias1	G	A	9: 62,794,593 (GRCm39)	Q26*	probably null	Het
Plcg2	C	T	8: 118,282,843 (GRCm39)	T108M	probably damaging	Het
Pon2	G	A	6: 5,267,059 (GRCm39)		probably benign	Het
Ppef2	A	T	5: 92,400,952 (GRCm39)		probably benign	Het
Pramel21	G	T	4: 143,342,726 (GRCm39)	V278F	probably benign	Het
Ptpn22	A	G	3: 103,767,771 (GRCm39)	K18E	probably damaging	Het
Pum2	C	T	12: 8,771,736 (GRCm39)	Q360*	probably null	Het
Rab10	A	C	12: 3,302,723 (GRCm39)		probably null	Het
Ranbp2	T	G	10: 58,303,254 (GRCm39)	S809A	possibly damaging	Het
Rbms2	A	G	10: 127,969,539 (GRCm39)	V348A	probably benign	Het
Rnf213	A	G	11: 119,316,838 (GRCm39)	E988G	possibly damaging	Het
Rnf213	A	T	11: 119,333,946 (GRCm39)	M3052L	probably damaging	Het
Rpl14	C	A	9: 120,403,428 (GRCm39)		probably benign	Het
Rplp0	A	G	5: 115,697,931 (GRCm39)	Y13C	possibly damaging	Het
Ryr1	A	G	7: 28,703,218 (GRCm39)		probably benign	Het
Sac3d1	T	C	19: 6,168,324 (GRCm39)	E98G	probably damaging	Het
Scn10a	T	A	9: 119,453,166 (GRCm39)	D1242V	probably damaging	Het
Scnn1b	T	C	7: 121,498,681 (GRCm39)	Y74H	probably damaging	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Sf3b4	C	A	3: 96,081,017 (GRCm39)	D108E	probably damaging	Het
Shprh	T	C	10: 11,032,935 (GRCm39)	V307A	probably damaging	Het
Slc2a2	A	G	3: 28,781,426 (GRCm39)	D458G	probably benign	Het
Strc	T	C	2: 121,210,014 (GRCm39)	D103G	probably damaging	Het
Synrg	T	C	11: 83,910,369 (GRCm39)	I923T	probably benign	Het
Tango6	G	T	8: 107,462,314 (GRCm39)		probably benign	Het
Tas2r106	A	G	6: 131,655,539 (GRCm39)	L104P	probably damaging	Het
Tat	C	T	8: 110,718,316 (GRCm39)	P67L	probably damaging	Het
Tln2	A	C	9: 67,262,479 (GRCm39)	S593A	probably benign	Het
Tmem94	A	G	11: 115,685,607 (GRCm39)		probably null	Het
Tppp3	G	A	8: 106,194,804 (GRCm39)	A109V	probably benign	Het
Trank1	T	C	9: 111,220,361 (GRCm39)	F2366S	probably benign	Het
Trpc5	T	A	X: 143,264,392 (GRCm39)	Y155F	probably damaging	Het
Trpv1	A	G	11: 73,151,268 (GRCm39)	T451A	probably benign	Het
Ttc9	C	A	12: 81,678,423 (GRCm39)	A82E	probably damaging	Het
Ttll11	T	A	2: 35,834,886 (GRCm39)	N180I	probably damaging	Het
Ttn	T	C	2: 76,566,743 (GRCm39)	N28050S	possibly damaging	Het
Vmn2r73	G	T	7: 85,522,140 (GRCm39)	H66Q	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wnt3	G	A	11: 103,703,141 (GRCm39)	C208Y	probably damaging	Het
Zfp521	C	A	18: 13,978,325 (GRCm39)	C696F	probably damaging	Het
Zfp521	T	C	18: 13,979,927 (GRCm39)	D162G	probably damaging	Het
Zfp869	A	T	8: 70,159,054 (GRCm39)	H506Q	probably damaging	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
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
R2319:Pik3cg	UTSW	12	32,226,735 (GRCm39)	missense	probably damaging	0.99
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'- GGCAACAATTTCTTGCTGCCCC -3'
(R):5'- GTGGCTGGAGTTTGGCATCAAAATC -3'

Sequencing Primer
(F):5'- AAGCCTTCGGATGCTTCAG -3'
(R):5'- TGGCATCAAAATCAAAGACTTGC -3'

Posted On

2013-05-23