Mutagenetix > Incidental Mutation

Incidental Mutation 'R0044:Pik3r6'

32893

Institutional Source

Beutler Lab

Gene Symbol

Pik3r6

Ensembl Gene

ENSMUSG00000046207

Gene Name

phosphoinositide-3-kinase regulatory subunit 5

Synonyms

p87PIKAP, p84 Pikap

MMRRC Submission

038338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0044 (G1)

Quality Score

124

Status

Validated (trace)

Chromosome

Chromosomal Location

68393845-68443524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68435576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 609 (T609A)

Ref Sequence

ENSEMBL: ENSMUSP00000052522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060441] [ENSMUST00000102613]

AlphaFold

Q3U6Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000060441
AA Change: T609A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: T609A

Domain	Start	End	E-Value	Type
Pfam:PI3K_1B_p101	7	306	7.4e-28	PFAM
low complexity region	310	324	N/A	INTRINSIC
Pfam:PI3K_1B_p101	394	755	1.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102613
AA Change: T605A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: T605A

Domain	Start	End	E-Value	Type
Pfam:PI3K_1B_p101	3	335	1.8e-111	PFAM
Pfam:PI3K_1B_p101	332	752	1.6e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153671

Meta Mutation Damage Score

0.1630

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 11. The protein binds to both the catalytic subunit and to G beta-gamma, and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small reductions in lymphocyte and granulocyte and a slight increase in neutrophils. [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
6430571L13Rik	A	C	9: 107,219,698 (GRCm39)	R50S	probably damaging	Het
Actn2	G	T	13: 12,290,013 (GRCm39)	T176N	possibly damaging	Het
Adamts7	T	C	9: 90,053,641 (GRCm39)	V62A	possibly damaging	Het
Adcy2	A	G	13: 68,876,018 (GRCm39)	S495P	possibly damaging	Het
Agbl3	A	T	6: 34,776,834 (GRCm39)	M447L	probably damaging	Het
Asxl1	C	T	2: 153,242,129 (GRCm39)	T893I	probably benign	Het
Atp11b	T	A	3: 35,866,401 (GRCm39)	I400N	probably damaging	Het
Bpifb2	C	T	2: 153,724,599 (GRCm39)		probably benign	Het
Capn1	T	A	19: 6,064,373 (GRCm39)	Y42F	probably benign	Het
Cdk5rap2	A	T	4: 70,279,138 (GRCm39)	L190H	probably damaging	Het
Cfap54	T	C	10: 92,871,295 (GRCm39)	I594V	probably null	Het
Cpsf1	A	G	15: 76,483,753 (GRCm39)	V830A	probably benign	Het
Cyp2c70	T	A	19: 40,153,815 (GRCm39)	N258I	possibly damaging	Het
Dctn1	T	G	6: 83,168,116 (GRCm39)	Y386D	probably damaging	Het
Degs2	T	C	12: 108,658,413 (GRCm39)	N189D	probably damaging	Het
Dido1	C	T	2: 180,303,612 (GRCm39)	A1431T	probably damaging	Het
Diras1	G	T	10: 80,857,972 (GRCm39)	S93*	probably null	Het
E130308A19Rik	T	A	4: 59,690,290 (GRCm39)	H41Q	possibly damaging	Het
Ebf2	C	T	14: 67,548,417 (GRCm39)		probably benign	Het
Fcho2	A	G	13: 98,892,052 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,358,020 (GRCm39)	Y681*	probably null	Het
Gm10036	A	C	18: 15,965,873 (GRCm39)	K8T	probably benign	Het
Herc1	T	A	9: 66,355,457 (GRCm39)	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,302,520 (GRCm39)	Y2948F	probably damaging	Het
Jakmip2	A	T	18: 43,715,170 (GRCm39)	C119S	probably benign	Het
Kif1b	A	G	4: 149,348,058 (GRCm39)		probably benign	Het
Kif6	T	C	17: 50,139,284 (GRCm39)		probably benign	Het
Lpin1	A	T	12: 16,618,530 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,357,899 (GRCm39)	I377V	probably benign	Het
Mavs	C	A	2: 131,083,944 (GRCm39)	T147N	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mreg	T	G	1: 72,201,534 (GRCm39)	T153P	probably damaging	Het
Naglu	T	C	11: 100,962,043 (GRCm39)	I172T	probably damaging	Het
Odad4	A	T	11: 100,457,827 (GRCm39)	I477F	probably damaging	Het
Ogdhl	T	C	14: 32,061,285 (GRCm39)	V492A	possibly damaging	Het
Or4a72	A	G	2: 89,405,974 (GRCm39)	I32T	possibly damaging	Het
Parvg	A	G	15: 84,222,083 (GRCm39)	E323G	probably benign	Het
Pgap1	A	G	1: 54,532,527 (GRCm39)	L664S	probably damaging	Het
Pgm2l1	A	G	7: 99,899,539 (GRCm39)	N51S	probably benign	Het
Plcb4	T	A	2: 135,813,776 (GRCm39)	V705E	probably damaging	Het
Plppr5	T	A	3: 117,465,538 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,120,989 (GRCm39)	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,004,566 (GRCm39)	V63A	probably benign	Het
Ptprz1	T	A	6: 23,007,402 (GRCm39)	I1655N	probably damaging	Het
Raf1	T	A	6: 115,600,476 (GRCm39)	D10V	probably benign	Het
Rexo1	T	A	10: 80,380,212 (GRCm39)	Q928L	probably benign	Het
Rpl7l1	A	C	17: 47,089,456 (GRCm39)		probably null	Het
Rrm2b	A	G	15: 37,953,932 (GRCm39)	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,321,113 (GRCm39)		probably null	Het
Sgtb	A	G	13: 104,265,768 (GRCm39)	T93A	probably benign	Het
Sigirr	G	T	7: 140,672,226 (GRCm39)		probably null	Het
Slc16a7	T	C	10: 125,063,951 (GRCm39)	D462G	probably benign	Het
Slc25a30	C	T	14: 76,007,089 (GRCm39)	A85T	probably benign	Het
Spata24	A	G	18: 35,789,887 (GRCm39)	S167P	probably damaging	Het
Spock3	C	T	8: 63,597,041 (GRCm39)	T115I	possibly damaging	Het
Srgap2	A	G	1: 131,247,289 (GRCm39)	I581T	possibly damaging	Het
Syn2	A	T	6: 115,112,108 (GRCm39)	M23L	unknown	Het
Synrg	G	A	11: 83,900,007 (GRCm39)	V839I	probably damaging	Het
Tmtc1	A	G	6: 148,314,327 (GRCm39)		probably benign	Het
Tnfaip3	C	A	10: 18,887,374 (GRCm39)	M50I	probably damaging	Het
Topbp1	T	A	9: 103,202,972 (GRCm39)	I721N	possibly damaging	Het
Ttc22	T	G	4: 106,494,003 (GRCm39)	V321G	probably benign	Het
Ubr2	A	G	17: 47,303,911 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,164,369 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,269,281 (GRCm39)		probably benign	Het
Vmn2r100	A	T	17: 19,742,441 (GRCm39)	I272L	possibly damaging	Het
Vrtn	T	A	12: 84,695,379 (GRCm39)	L43H	probably damaging	Het
Wnk1	G	T	6: 120,014,110 (GRCm39)	R162S	probably damaging	Het
Xkr9	G	A	1: 13,754,286 (GRCm39)	W93*	probably null	Het
Zfp804b	G	T	5: 6,819,655 (GRCm39)	P1136H	probably damaging	Het

Other mutations in Pik3r6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Pik3r6	APN	11	68,425,077 (GRCm39)	missense	probably damaging	0.98
IGL00913:Pik3r6	APN	11	68,442,147 (GRCm39)	missense	probably damaging	1.00
IGL00984:Pik3r6	APN	11	68,424,445 (GRCm39)	missense	probably benign	0.39
IGL01110:Pik3r6	APN	11	68,419,652 (GRCm39)	critical splice donor site	probably null
IGL01116:Pik3r6	APN	11	68,422,276 (GRCm39)	missense	probably benign	0.01
IGL02839:Pik3r6	APN	11	68,417,238 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Pik3r6	UTSW	11	68,417,931 (GRCm39)	missense	probably damaging	1.00
R0062:Pik3r6	UTSW	11	68,419,635 (GRCm39)	missense	probably damaging	1.00
R0062:Pik3r6	UTSW	11	68,419,635 (GRCm39)	missense	probably damaging	1.00
R0266:Pik3r6	UTSW	11	68,417,234 (GRCm39)	nonsense	probably null
R0454:Pik3r6	UTSW	11	68,419,608 (GRCm39)	missense	possibly damaging	0.88
R0906:Pik3r6	UTSW	11	68,426,927 (GRCm39)	splice site	probably benign
R1119:Pik3r6	UTSW	11	68,436,698 (GRCm39)	missense	probably benign	0.05
R1440:Pik3r6	UTSW	11	68,422,271 (GRCm39)	missense	possibly damaging	0.91
R1664:Pik3r6	UTSW	11	68,426,932 (GRCm39)	missense	probably benign
R1831:Pik3r6	UTSW	11	68,434,860 (GRCm39)	missense	probably benign	0.26
R2144:Pik3r6	UTSW	11	68,434,437 (GRCm39)	nonsense	probably null
R4013:Pik3r6	UTSW	11	68,424,347 (GRCm39)	missense	possibly damaging	0.85
R4754:Pik3r6	UTSW	11	68,435,601 (GRCm39)	missense	probably damaging	1.00
R4770:Pik3r6	UTSW	11	68,420,720 (GRCm39)	missense	probably damaging	1.00
R4860:Pik3r6	UTSW	11	68,434,879 (GRCm39)	splice site	probably benign
R4974:Pik3r6	UTSW	11	68,430,771 (GRCm39)	missense	probably damaging	1.00
R5033:Pik3r6	UTSW	11	68,424,294 (GRCm39)	nonsense	probably null
R5787:Pik3r6	UTSW	11	68,430,753 (GRCm39)	missense	possibly damaging	0.54
R5918:Pik3r6	UTSW	11	68,416,497 (GRCm39)	nonsense	probably null
R6164:Pik3r6	UTSW	11	68,442,799 (GRCm39)	missense	probably benign	0.00
R6192:Pik3r6	UTSW	11	68,434,455 (GRCm39)	missense	probably damaging	1.00
R6440:Pik3r6	UTSW	11	68,424,522 (GRCm39)	missense	probably benign	0.09
R7699:Pik3r6	UTSW	11	68,419,389 (GRCm39)	missense	probably damaging	1.00
R7700:Pik3r6	UTSW	11	68,419,389 (GRCm39)	missense	probably damaging	1.00
R7922:Pik3r6	UTSW	11	68,424,701 (GRCm39)	missense	probably benign	0.00
R7964:Pik3r6	UTSW	11	68,424,565 (GRCm39)	missense	probably benign	0.01
R8473:Pik3r6	UTSW	11	68,417,207 (GRCm39)	missense	probably benign	0.02
R8515:Pik3r6	UTSW	11	68,430,783 (GRCm39)	missense	probably damaging	1.00
R8883:Pik3r6	UTSW	11	68,424,468 (GRCm39)	missense	probably benign
R9545:Pik3r6	UTSW	11	68,422,365 (GRCm39)	missense	probably damaging	1.00
R9623:Pik3r6	UTSW	11	68,442,159 (GRCm39)	missense	possibly damaging	0.55
R9762:Pik3r6	UTSW	11	68,424,358 (GRCm39)	nonsense	probably null
W0251:Pik3r6	UTSW	11	68,424,697 (GRCm39)	missense	probably benign	0.01
Z1088:Pik3r6	UTSW	11	68,416,428 (GRCm39)	missense	probably damaging	0.98
Z1176:Pik3r6	UTSW	11	68,435,591 (GRCm39)	missense	probably benign	0.12
Z1176:Pik3r6	UTSW	11	68,411,026 (GRCm39)	start gained	probably benign
Z1177:Pik3r6	UTSW	11	68,442,053 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATGGCTAAGCCTCTGCCCATATGC -3'
(R):5'- GCTTTACTCAAGGCTGCCTGGTTTC -3'

Sequencing Primer
(F):5'- GCCCATATGCCCCTTATTGG -3'
(R):5'- TGCCTGGTTTCAGCCAAC -3'

Posted On

2013-05-09