Mutagenetix > Incidental Mutation

Incidental Mutation 'R0894:Pik3r4'

83676

Institutional Source

Beutler Lab

Gene Symbol

Pik3r4

Ensembl Gene

ENSMUSG00000032571

Gene Name

phosphoinositide-3-kinase regulatory subunit 4

Synonyms

p150, Vps15

MMRRC Submission

039057-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0894 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105520177-105564856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105544970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 150 (K150E)

Ref Sequence

ENSEMBL: ENSMUSP00000140311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000186943] [ENSMUST00000191268]

AlphaFold

Q8VD65

Predicted Effect

probably benign
Transcript: ENSMUST00000065778
AA Change: K791E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: K791E

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	26	310	1.7e-5	PFAM
Pfam:Pkinase	26	312	1.2e-18	PFAM
coiled coil region	941	963	N/A	INTRINSIC
WD40	982	1021	3.99e-8	SMART
WD40	1031	1070	6.16e0	SMART
WD40	1132	1169	4.58e1	SMART
WD40	1171	1214	1.64e2	SMART
WD40	1228	1269	2.76e-2	SMART
WD40	1317	1358	2.96e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186943
AA Change: K150E

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188385

Predicted Effect

probably benign
Transcript: ENSMUST00000191268
AA Change: K791E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: K791E

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	26	310	8.9e-7	PFAM
Pfam:Pkinase	26	312	3.7e-23	PFAM
coiled coil region	941	963	N/A	INTRINSIC
WD40	982	1021	3.99e-8	SMART
WD40	1031	1070	6.16e0	SMART
WD40	1132	1169	4.58e1	SMART
WD40	1171	1214	1.64e2	SMART
WD40	1228	1269	2.76e-2	SMART
WD40	1317	1358	2.96e-2	SMART

Meta Mutation Damage Score

0.0785

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

97% (102/105)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit earl embryonic lethality before E7.5. Mice homozygous for a conditional allele activated in muscles exhibit symptoms of autophagic vacuolar myopathies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,726 (GRCm39)	S1044G	probably benign	Het
Aanat	A	G	11: 116,487,730 (GRCm39)	H143R	probably benign	Het
Abca8a	A	G	11: 109,941,792 (GRCm39)	I1159T	probably benign	Het
Abcb1a	G	T	5: 8,724,856 (GRCm39)		probably benign	Het
Abcc1	T	C	16: 14,283,001 (GRCm39)	V1159A	possibly damaging	Het
Akr1e1	T	A	13: 4,645,071 (GRCm39)	Q204L	probably damaging	Het
Alk	T	C	17: 72,202,930 (GRCm39)	Y1135C	probably damaging	Het
Atad2b	C	T	12: 5,015,915 (GRCm39)	T547I	probably damaging	Het
Brd10	T	C	19: 29,697,974 (GRCm39)		probably benign	Het
C030005K15Rik	A	T	10: 97,561,648 (GRCm39)	S28T	unknown	Het
Cdk5rap3	A	G	11: 96,799,654 (GRCm39)	L387P	probably damaging	Het
Cfap95	T	C	19: 23,630,062 (GRCm39)	E10G	unknown	Het
Cfap96	A	G	8: 46,409,497 (GRCm39)	F274S	probably damaging	Het
Clec4f	T	A	6: 83,629,979 (GRCm39)	N193I	probably damaging	Het
Col4a4	A	T	1: 82,507,377 (GRCm39)		probably null	Het
Cplx4	T	G	18: 66,090,116 (GRCm39)	D101A	possibly damaging	Het
Cpne8	A	T	15: 90,533,474 (GRCm39)	D50E	probably damaging	Het
Csmd3	G	T	15: 47,721,316 (GRCm39)	D1542E	possibly damaging	Het
Ctdp1	A	G	18: 80,512,736 (GRCm39)	V9A	probably benign	Het
Ctnnd2	A	T	15: 30,332,301 (GRCm39)		probably benign	Het
Cyp7b1	C	T	3: 18,151,674 (GRCm39)	A180T	probably benign	Het
Dcun1d5	C	T	9: 7,203,379 (GRCm39)		probably benign	Het
Dgat1	G	T	15: 76,387,199 (GRCm39)	L363I	possibly damaging	Het
Dipk2b	T	A	X: 18,289,791 (GRCm39)	I224F	possibly damaging	Het
Dlg1	T	A	16: 31,561,965 (GRCm39)	H120Q	probably benign	Het
Dnah6	T	C	6: 73,101,740 (GRCm39)	N1928S	probably benign	Het
Dnai4	T	C	4: 102,906,583 (GRCm39)		probably benign	Het
Dync2h1	A	T	9: 7,041,734 (GRCm39)		probably benign	Het
Ednra	T	G	8: 78,446,649 (GRCm39)		probably benign	Het
Efcab6	A	T	15: 83,802,493 (GRCm39)	C845S	probably benign	Het
Egln1	A	T	8: 125,642,435 (GRCm39)	C303S	probably damaging	Het
Eomes	T	C	9: 118,311,368 (GRCm39)		probably null	Het
Epha1	A	G	6: 42,340,756 (GRCm39)	V568A	probably benign	Het
Ercc6	T	A	14: 32,238,985 (GRCm39)	N24K	probably benign	Het
Esco2	T	C	14: 66,064,726 (GRCm39)	Q338R	probably benign	Het
Fbxo46	T	C	7: 18,869,654 (GRCm39)	V91A	probably damaging	Het
Fryl	A	T	5: 73,198,675 (GRCm39)		probably benign	Het
Gab3	A	C	X: 74,077,024 (GRCm39)	D43E	probably damaging	Het
Gltpd2	T	A	11: 70,410,535 (GRCm39)		probably benign	Het
Gm17333	G	T	16: 77,649,711 (GRCm39)		noncoding transcript	Het
Gm7353	T	C	7: 3,160,570 (GRCm39)		noncoding transcript	Het
Grik4	T	C	9: 42,599,405 (GRCm39)		probably benign	Het
Gtpbp2	G	T	17: 46,476,895 (GRCm39)	A358S	possibly damaging	Het
Hyls1	C	T	9: 35,472,528 (GRCm39)	C296Y	probably damaging	Het
Igf2r	C	T	17: 12,910,988 (GRCm39)	M1943I	probably benign	Het
Iqca1l	T	C	5: 24,755,731 (GRCm39)		probably null	Het
Ireb2	T	A	9: 54,803,861 (GRCm39)	N517K	probably damaging	Het
Itga10	A	G	3: 96,560,976 (GRCm39)	S614G	possibly damaging	Het
Kdm2b	A	G	5: 123,122,523 (GRCm39)		probably null	Het
Kif17	T	C	4: 138,025,542 (GRCm39)	M948T	possibly damaging	Het
Klhl33	A	T	14: 51,129,583 (GRCm39)	N347K	probably damaging	Het
Llph	T	A	10: 120,064,086 (GRCm39)	C67*	probably null	Het
Lrrn3	T	C	12: 41,504,033 (GRCm39)	T95A	probably damaging	Het
Map3k12	C	A	15: 102,410,613 (GRCm39)	A455S	probably damaging	Het
Mex3d	T	C	10: 80,217,376 (GRCm39)	T149A	probably benign	Het
Myo7b	A	G	18: 32,133,123 (GRCm39)	W409R	probably damaging	Het
Nbea	A	G	3: 55,916,761 (GRCm39)	M833T	possibly damaging	Het
Ncapg	A	G	5: 45,837,236 (GRCm39)	T436A	probably null	Het
Nkx1-2	C	A	7: 132,201,042 (GRCm39)	D72Y	probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2d3b	T	A	7: 106,514,317 (GRCm39)	I304K	probably benign	Het
Or6c217	T	A	10: 129,737,751 (GRCm39)	N276I	probably damaging	Het
Pcdh15	A	G	10: 74,460,087 (GRCm39)	Y1308C	probably damaging	Het
Pcnx2	A	G	8: 126,613,665 (GRCm39)		probably benign	Het
Pcsk1	G	A	13: 75,246,096 (GRCm39)	G158D	probably damaging	Het
Phkb	A	T	8: 86,744,070 (GRCm39)	D573V	probably damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Ppp4r4	C	T	12: 103,566,754 (GRCm39)	A67V	probably damaging	Het
Prex2	A	G	1: 11,252,122 (GRCm39)	T1056A	probably benign	Het
Prkca	A	T	11: 107,903,518 (GRCm39)	Y285N	possibly damaging	Het
Psd	T	C	19: 46,301,880 (GRCm39)	E903G	probably damaging	Het
Psg19	T	C	7: 18,527,987 (GRCm39)	E252G	probably benign	Het
Psg20	T	A	7: 18,414,969 (GRCm39)	K306*	probably null	Het
Pygl	T	G	12: 70,241,148 (GRCm39)		probably benign	Het
Rasgrf2	A	G	13: 92,130,890 (GRCm39)	S724P	probably damaging	Het
Reck	C	A	4: 43,922,967 (GRCm39)	A414D	probably damaging	Het
Scn10a	C	A	9: 119,459,213 (GRCm39)	V1150L	probably damaging	Het
Shc2	A	T	10: 79,465,751 (GRCm39)	I187N	probably damaging	Het
Sipa1l3	T	A	7: 29,086,716 (GRCm39)	K625*	probably null	Het
Slc44a4	T	C	17: 35,147,466 (GRCm39)	L583P	possibly damaging	Het
Slc5a11	G	C	7: 122,857,643 (GRCm39)	R244P	possibly damaging	Het
Slfn8	T	A	11: 82,894,407 (GRCm39)	Q744L	probably benign	Het
Snx2	G	T	18: 53,309,488 (GRCm39)	V13L	probably benign	Het
Spmip5	A	T	19: 58,776,015 (GRCm39)	L138Q	probably damaging	Het
Spsb1	C	T	4: 149,990,872 (GRCm39)		probably null	Het
Stfa2l1	A	T	16: 35,977,228 (GRCm39)	I8L	probably benign	Het
Svil	G	T	18: 5,097,494 (GRCm39)	R1659L	probably damaging	Het
Tbccd1	A	T	16: 22,640,995 (GRCm39)	L461M	probably benign	Het
Tmem9	A	T	1: 135,961,926 (GRCm39)	T174S	possibly damaging	Het
Tnks2	T	C	19: 36,867,450 (GRCm39)		probably null	Het
Tnrc18	C	A	5: 142,800,869 (GRCm39)	V30L	probably benign	Het
Tomm7	A	G	5: 24,049,025 (GRCm39)	F16S	probably damaging	Het
Ttf2	A	G	3: 100,876,865 (GRCm39)		probably benign	Het
Ubr7	C	A	12: 102,735,450 (GRCm39)	T303N	probably damaging	Het
Ushbp1	A	T	8: 71,842,868 (GRCm39)		probably null	Het
Vmn1r177	C	A	7: 23,565,475 (GRCm39)	V134F	probably benign	Het
Vmn2r12	A	G	5: 109,235,716 (GRCm39)		probably null	Het
Vmn2r53	T	G	7: 12,335,141 (GRCm39)	H173P	probably benign	Het
Yars1	A	T	4: 129,090,948 (GRCm39)	M119L	probably damaging	Het
Zcrb1	A	T	15: 93,295,038 (GRCm39)		probably benign	Het
Zfp267	T	A	3: 36,218,935 (GRCm39)	Y319*	probably null	Het
Zfp319	C	A	8: 96,056,250 (GRCm39)		probably benign	Het
Zfp783	C	G	6: 47,920,320 (GRCm39)		noncoding transcript	Het
Zfyve26	A	G	12: 79,320,372 (GRCm39)	I1024T	possibly damaging	Het

Other mutations in Pik3r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Pik3r4	APN	9	105,521,803 (GRCm39)	missense	possibly damaging	0.75
IGL01617:Pik3r4	APN	9	105,532,164 (GRCm39)	missense	probably benign	0.33
IGL01764:Pik3r4	APN	9	105,562,321 (GRCm39)	splice site	probably benign
IGL01817:Pik3r4	APN	9	105,528,021 (GRCm39)	missense	probably damaging	1.00
IGL01830:Pik3r4	APN	9	105,522,154 (GRCm39)	missense	probably damaging	1.00
IGL01905:Pik3r4	APN	9	105,522,077 (GRCm39)	nonsense	probably null
IGL01947:Pik3r4	APN	9	105,563,349 (GRCm39)	missense	possibly damaging	0.91
IGL01985:Pik3r4	APN	9	105,540,244 (GRCm39)	missense	probably benign	0.03
IGL02321:Pik3r4	APN	9	105,521,677 (GRCm39)	missense	probably benign	0.04
IGL02389:Pik3r4	APN	9	105,527,530 (GRCm39)	missense	possibly damaging	0.88
IGL02898:Pik3r4	APN	9	105,527,605 (GRCm39)	missense	probably benign	0.21
IGL03037:Pik3r4	APN	9	105,528,012 (GRCm39)	missense	probably damaging	1.00
boteh	UTSW	9	105,545,137 (GRCm39)	splice site	probably null
truth	UTSW	9	105,527,805 (GRCm39)	missense	probably damaging	0.98
verisimilitude	UTSW	9	105,555,352 (GRCm39)	missense	probably benign	0.17
IGL02835:Pik3r4	UTSW	9	105,549,905 (GRCm39)	missense	probably benign	0.07
R0011:Pik3r4	UTSW	9	105,521,836 (GRCm39)	missense	probably benign	0.01
R0312:Pik3r4	UTSW	9	105,563,409 (GRCm39)	missense	probably damaging	1.00
R0321:Pik3r4	UTSW	9	105,525,906 (GRCm39)	missense	probably damaging	1.00
R0482:Pik3r4	UTSW	9	105,546,244 (GRCm39)	missense	probably benign	0.04
R0645:Pik3r4	UTSW	9	105,546,386 (GRCm39)	splice site	probably benign
R0690:Pik3r4	UTSW	9	105,531,175 (GRCm39)	missense	possibly damaging	0.81
R0789:Pik3r4	UTSW	9	105,562,366 (GRCm39)	missense	probably benign	0.14
R0988:Pik3r4	UTSW	9	105,564,404 (GRCm39)	missense	probably damaging	0.97
R1123:Pik3r4	UTSW	9	105,540,328 (GRCm39)	missense	probably benign
R1172:Pik3r4	UTSW	9	105,540,373 (GRCm39)	missense	probably damaging	1.00
R1174:Pik3r4	UTSW	9	105,540,373 (GRCm39)	missense	probably damaging	1.00
R1342:Pik3r4	UTSW	9	105,528,100 (GRCm39)	critical splice donor site	probably null
R1387:Pik3r4	UTSW	9	105,521,490 (GRCm39)	missense	probably damaging	1.00
R1480:Pik3r4	UTSW	9	105,564,443 (GRCm39)	missense	probably benign	0.39
R1638:Pik3r4	UTSW	9	105,564,408 (GRCm39)	missense	probably damaging	1.00
R1643:Pik3r4	UTSW	9	105,564,351 (GRCm39)	missense	possibly damaging	0.83
R1995:Pik3r4	UTSW	9	105,546,364 (GRCm39)	missense	probably benign	0.12
R2037:Pik3r4	UTSW	9	105,527,534 (GRCm39)	missense	probably benign	0.00
R2165:Pik3r4	UTSW	9	105,549,984 (GRCm39)	missense	probably benign	0.05
R4210:Pik3r4	UTSW	9	105,527,957 (GRCm39)	missense	possibly damaging	0.57
R4515:Pik3r4	UTSW	9	105,549,924 (GRCm39)	missense	probably damaging	1.00
R4519:Pik3r4	UTSW	9	105,549,924 (GRCm39)	missense	probably damaging	1.00
R4630:Pik3r4	UTSW	9	105,532,098 (GRCm39)	missense	probably benign	0.06
R4632:Pik3r4	UTSW	9	105,532,098 (GRCm39)	missense	probably benign	0.06
R4732:Pik3r4	UTSW	9	105,555,375 (GRCm39)	missense	possibly damaging	0.56
R4733:Pik3r4	UTSW	9	105,555,375 (GRCm39)	missense	possibly damaging	0.56
R4940:Pik3r4	UTSW	9	105,546,193 (GRCm39)	missense	probably benign	0.20
R5120:Pik3r4	UTSW	9	105,546,208 (GRCm39)	missense	probably benign	0.30
R5169:Pik3r4	UTSW	9	105,555,360 (GRCm39)	missense	probably benign	0.14
R5183:Pik3r4	UTSW	9	105,559,507 (GRCm39)	missense	possibly damaging	0.87
R5353:Pik3r4	UTSW	9	105,545,137 (GRCm39)	splice site	probably null
R5463:Pik3r4	UTSW	9	105,525,930 (GRCm39)	missense	probably damaging	1.00
R5635:Pik3r4	UTSW	9	105,545,024 (GRCm39)	missense	probably benign	0.01
R5763:Pik3r4	UTSW	9	105,546,974 (GRCm39)	missense	probably benign	0.01
R5830:Pik3r4	UTSW	9	105,522,023 (GRCm39)	nonsense	probably null
R6251:Pik3r4	UTSW	9	105,531,247 (GRCm39)	missense	probably benign
R6468:Pik3r4	UTSW	9	105,562,389 (GRCm39)	missense	possibly damaging	0.86
R6611:Pik3r4	UTSW	9	105,521,476 (GRCm39)	missense	probably damaging	0.99
R6642:Pik3r4	UTSW	9	105,521,845 (GRCm39)	missense	probably benign	0.11
R6821:Pik3r4	UTSW	9	105,527,805 (GRCm39)	missense	probably damaging	0.98
R7039:Pik3r4	UTSW	9	105,554,089 (GRCm39)	missense	possibly damaging	0.76
R7144:Pik3r4	UTSW	9	105,527,783 (GRCm39)	missense	probably damaging	0.98
R7410:Pik3r4	UTSW	9	105,527,790 (GRCm39)	missense	probably damaging	0.99
R7559:Pik3r4	UTSW	9	105,555,352 (GRCm39)	missense	probably benign	0.17
R7561:Pik3r4	UTSW	9	105,564,446 (GRCm39)	missense	possibly damaging	0.94
R7658:Pik3r4	UTSW	9	105,521,710 (GRCm39)	missense	probably damaging	0.98
R7727:Pik3r4	UTSW	9	105,547,081 (GRCm39)	missense	probably damaging	0.99
R7871:Pik3r4	UTSW	9	105,540,316 (GRCm39)	missense	probably damaging	1.00
R7957:Pik3r4	UTSW	9	105,564,408 (GRCm39)	missense	probably damaging	1.00
R8138:Pik3r4	UTSW	9	105,546,234 (GRCm39)	missense	possibly damaging	0.55
R8686:Pik3r4	UTSW	9	105,535,728 (GRCm39)	missense	possibly damaging	0.50
R8719:Pik3r4	UTSW	9	105,559,394 (GRCm39)	missense	probably benign	0.00
R9091:Pik3r4	UTSW	9	105,547,108 (GRCm39)	missense	probably benign	0.35
R9189:Pik3r4	UTSW	9	105,547,038 (GRCm39)	missense	probably benign	0.22
R9270:Pik3r4	UTSW	9	105,547,108 (GRCm39)	missense	probably benign	0.35
R9439:Pik3r4	UTSW	9	105,528,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTATGGTCAACAAAATTGGCGGTG -3'
(R):5'- ACAGAGCTGTGATCTAGGCAGGTG -3'

Sequencing Primer
(F):5'- GCTAATATGAGGAAAATACCCATGC -3'
(R):5'- CGTGTCCACCTACTAAGGAG -3'

Posted On

2013-11-08