Mutagenetix > Incidental Mutation

Incidental Mutation 'R9623:Pik3r6'

724986

Institutional Source

Beutler Lab

Gene Symbol

Pik3r6

Ensembl Gene

ENSMUSG00000046207

Gene Name

phosphoinositide-3-kinase regulatory subunit 5

Synonyms

p87PIKAP, p84 Pikap

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9623 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68393845-68443524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68442159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 705 (V705A)

Ref Sequence

ENSEMBL: ENSMUSP00000052522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053211] [ENSMUST00000060441] [ENSMUST00000102613]

AlphaFold

Q3U6Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000053211

SMART Domains

Protein: ENSMUSP00000061601
Gene: ENSMUSG00000048329

Domain	Start	End	E-Value	Type
Pfam:MFS_1_like	28	88	1.6e-7	PFAM
transmembrane domain	284	303	N/A	INTRINSIC
transmembrane domain	318	340	N/A	INTRINSIC
Pfam:MFS_1	365	555	4e-11	PFAM
low complexity region	557	571	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060441
AA Change: V705A

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
AA Change: V705A

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

possibly damaging
Transcript: ENSMUST00000102613
AA Change: V701A

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
AA Change: V701A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	T	7: 119,181,975 (GRCm39)	Y408F	probably benign	Het
Adamts9	G	T	6: 92,857,661 (GRCm39)	P876T	probably benign	Het
Afap1l2	T	A	19: 56,906,462 (GRCm39)	D479V	probably damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ampd3	A	G	7: 110,402,307 (GRCm39)	E428G	probably damaging	Het
Apaf1	A	T	10: 90,913,463 (GRCm39)	Y153*	probably null	Het
Arhgap10	T	C	8: 77,985,786 (GRCm39)	T694A	probably benign	Het
Arhgef39	A	G	4: 43,496,819 (GRCm39)		probably null	Het
Arhgef5	T	C	6: 43,251,736 (GRCm39)	V829A	possibly damaging	Het
Arrdc4	A	G	7: 68,390,741 (GRCm39)	M333T		Het
Boc	G	T	16: 44,322,018 (GRCm39)	R215S		Het
Capn2	G	A	1: 182,344,795 (GRCm39)	A42V	probably benign	Het
Ccdc136	T	A	6: 29,405,939 (GRCm39)	M95K	probably benign	Het
Ccdc183	A	T	2: 25,499,520 (GRCm39)	Y438N	probably benign	Het
Ccnf	C	A	17: 24,468,367 (GRCm39)	R10M	probably damaging	Het
Cd19	A	G	7: 126,011,284 (GRCm39)	F300S	probably damaging	Het
Cdkl3	G	T	11: 51,895,816 (GRCm39)	C21F	probably damaging	Het
Celf2	C	T	2: 6,620,522 (GRCm39)	R183Q	probably damaging	Het
Clca3a1	T	G	3: 144,719,698 (GRCm39)	D424A	probably benign	Het
Clec3a	A	G	8: 115,144,887 (GRCm39)	D21G	probably benign	Het
Clec4e	T	C	6: 123,263,306 (GRCm39)	N78S	probably benign	Het
Clpb	A	T	7: 101,313,399 (GRCm39)	S128C	possibly damaging	Het
Cntnap5a	T	A	1: 116,369,985 (GRCm39)	Y867*	probably null	Het
Dgkg	G	C	16: 22,385,194 (GRCm39)	N437K		Het
Dnhd1	A	G	7: 105,335,773 (GRCm39)	E1139G	probably damaging	Het
Dnhd1	G	A	7: 105,344,134 (GRCm39)	R1826H	probably damaging	Het
Etl4	A	G	2: 20,811,052 (GRCm39)	H1413R		Het
Fibp	T	A	19: 5,513,850 (GRCm39)	V271D	possibly damaging	Het
Gabra4	G	T	5: 71,791,023 (GRCm39)	T273K	probably damaging	Het
Gan	G	A	8: 117,914,219 (GRCm39)	D206N	probably damaging	Het
Gstz1	A	T	12: 87,206,923 (GRCm39)	I106F	probably damaging	Het
Hivep2	T	G	10: 14,006,546 (GRCm39)	L1048R	probably damaging	Het
Htr6	A	T	4: 138,801,750 (GRCm39)	M108K	probably damaging	Het
Hycc1	A	C	5: 24,170,255 (GRCm39)	S365A	probably benign	Het
Itgad	A	G	7: 127,803,723 (GRCm39)	E1134G	probably damaging	Het
Lrp1b	C	T	2: 41,366,648 (GRCm39)	G657S		Het
Lrp2	T	C	2: 69,307,423 (GRCm39)	I2879V	probably benign	Het
Lyst	G	T	13: 13,852,587 (GRCm39)	V2196L	probably benign	Het
Mettl5	T	A	2: 69,711,717 (GRCm39)	I50F	possibly damaging	Het
Mmadhc	A	G	2: 50,186,341 (GRCm39)		probably benign	Het
Msantd1	G	A	5: 35,075,076 (GRCm39)	W46*	probably null	Het
Mto1	T	C	9: 78,364,712 (GRCm39)	I317T	probably damaging	Het
Myef2	T	G	2: 124,957,377 (GRCm39)	D126A	probably damaging	Het
Net1	A	G	13: 3,937,569 (GRCm39)		probably null	Het
Nnmt	A	T	9: 48,503,660 (GRCm39)	M122K	probably benign	Het
Nos1	A	G	5: 118,087,849 (GRCm39)	K1371E	probably benign	Het
Nrcam	G	C	12: 44,636,931 (GRCm39)	W1121C	probably damaging	Het
Nt5c2	A	G	19: 46,877,409 (GRCm39)	S511P		Het
Or10w1	C	A	19: 13,632,414 (GRCm39)	A207E	probably damaging	Het
Or1j17	G	T	2: 36,578,778 (GRCm39)	V255F	probably benign	Het
Or2k2	T	C	4: 58,785,585 (GRCm39)	I46V	possibly damaging	Het
Or4a73	A	G	2: 89,421,261 (GRCm39)	F66S	probably benign	Het
P2rx7	A	G	5: 122,790,860 (GRCm39)	K66E	probably damaging	Het
Paqr4	A	G	17: 23,956,656 (GRCm39)	W236R	probably damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Pcbp2	T	C	15: 102,392,628 (GRCm39)	Y178H	probably damaging	Het
Pidd1	G	A	7: 141,021,678 (GRCm39)	P261S	probably damaging	Het
Pla2g15	G	T	8: 106,887,275 (GRCm39)	V156F	possibly damaging	Het
Prpf6	G	A	2: 181,289,137 (GRCm39)	V609M	possibly damaging	Het
Resf1	A	G	6: 149,226,965 (GRCm39)	N4D	possibly damaging	Het
Rprd2	A	G	3: 95,679,505 (GRCm39)	V491A	probably benign	Het
Rtp3	T	A	9: 110,818,600 (GRCm39)	H27L	probably damaging	Het
Sema5b	G	A	16: 35,443,121 (GRCm39)	R42Q	possibly damaging	Het
Serpina3f	A	G	12: 104,183,743 (GRCm39)	K202E	probably damaging	Het
Slc25a33	T	G	4: 149,833,767 (GRCm39)	M168L	probably benign	Het
Slc7a8	A	G	14: 54,964,341 (GRCm39)	C371R	probably damaging	Het
Smyd1	T	C	6: 71,192,808 (GRCm39)	N467S	probably benign	Het
Sptbn4	A	G	7: 27,107,807 (GRCm39)	W872R	probably damaging	Het
Syne1	A	T	10: 5,152,009 (GRCm39)	I5766N	probably damaging	Het
Syne2	A	G	12: 75,986,760 (GRCm39)	S1699G	probably benign	Het
Synpo2	T	C	3: 122,908,047 (GRCm39)	D423G	possibly damaging	Het
Tcf19	A	T	17: 35,825,792 (GRCm39)	F122I	probably damaging	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Trappc8	T	A	18: 20,983,975 (GRCm39)	H681L	possibly damaging	Het
Trim36	A	G	18: 46,308,623 (GRCm39)	F413S	probably benign	Het
Tsks	A	G	7: 44,605,931 (GRCm39)	T466A	possibly damaging	Het
Ubr1	T	C	2: 120,764,820 (GRCm39)	I545V	probably benign	Het
Ubr4	A	G	4: 139,159,024 (GRCm39)	E1170G	probably benign	Het
Usp29	A	G	7: 6,964,396 (GRCm39)	R80G	possibly damaging	Het
Utrn	C	T	10: 12,282,225 (GRCm39)	R3258H	probably damaging	Het
Vmn1r13	T	G	6: 57,187,549 (GRCm39)	V236G	probably benign	Het
Vmn1r33	T	A	6: 66,589,002 (GRCm39)	D184V	probably damaging	Het
Vmn2r87	T	C	10: 130,315,794 (GRCm39)	N91D	probably damaging	Het
Wrn	A	G	8: 33,774,644 (GRCm39)		probably null	Het
Zan	G	A	5: 137,461,636 (GRCm39)	P1181L	unknown	Het
Zbtb47	C	A	9: 121,591,990 (GRCm39)	Y103*	probably null	Het
Zfc3h1	C	A	10: 115,259,362 (GRCm39)	L1645I	possibly damaging	Het
Zfhx2	G	T	14: 55,302,191 (GRCm39)	P1931Q	probably damaging	Het
Zfp352	A	G	4: 90,113,128 (GRCm39)	K423E	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp7	G	A	15: 76,774,531 (GRCm39)	R191H	probably benign	Het
Zfp771	A	T	7: 126,844,301 (GRCm39)	K46*	probably null	Het
Zkscan8	T	C	13: 21,704,763 (GRCm39)	E392G	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
R0044:Pik3r6	UTSW	11	68,435,576 (GRCm39)	missense	probably benign	0.02
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
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'- AGGCTCTGCTGAAATTCTGC -3'
(R):5'- AGGAGTCCTGGGAACATTTAGC -3'

Sequencing Primer
(F):5'- GGCTCTGCTGAAATTCTGCTACAG -3'
(R):5'- GTCCTGGGAACATTTAGCACTAACG -3'

Posted On

2022-09-12