Mutagenetix > Incidental Mutation

Incidental Mutation 'R2893:Pik3ap1'

260682

Institutional Source

Beutler Lab

Gene Symbol

Pik3ap1

Ensembl Gene

ENSMUSG00000025017

Gene Name

phosphoinositide-3-kinase adaptor protein 1

Synonyms

BCAP, 1810044J04Rik

MMRRC Submission

040481-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2893 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

41260980-41373541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41364500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 73 (A73V)

Ref Sequence

ENSEMBL: ENSMUSP00000052777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059672]

AlphaFold

Q9EQ32

Predicted Effect

probably benign
Transcript: ENSMUST00000059672
AA Change: A73V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: A73V

Domain	Start	End	E-Value	Type
DBB	180	319	8.55e-75	SMART
SCOP:d1bd8__	331	396	8e-5	SMART
Blast:ANK	336	365	1e-7	BLAST
low complexity region	533	552	N/A	INTRINSIC
low complexity region	716	740	N/A	INTRINSIC
low complexity region	802	808	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in B cell maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Abl1	T	G	2: 31,687,624 (GRCm39)	S521R	probably benign	Het
Acox3	A	G	5: 35,757,192 (GRCm39)	I344V	probably benign	Het
Ank2	T	C	3: 127,041,892 (GRCm39)		probably null	Het
Atoh8	A	T	6: 72,211,856 (GRCm39)	F98Y	probably benign	Het
Caskin2	C	T	11: 115,692,103 (GRCm39)	G894E	probably benign	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Cdk5rap2	T	C	4: 70,208,110 (GRCm39)	K779E	probably benign	Het
Csmd2	T	A	4: 128,432,786 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,362,950 (GRCm39)	D1687G	possibly damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Faap100	T	C	11: 120,265,451 (GRCm39)	D475G	probably damaging	Het
Fhip2a	C	T	19: 57,372,601 (GRCm39)	P617L	probably benign	Het
Gm13090	T	A	4: 151,175,157 (GRCm39)	L78*	probably null	Het
Ikbke	G	A	1: 131,197,961 (GRCm39)	P382S	probably damaging	Het
Il4i1	A	G	7: 44,487,414 (GRCm39)	I130V	probably damaging	Het
Islr2	A	T	9: 58,105,149 (GRCm39)	S704T	probably damaging	Het
Itga10	A	G	3: 96,562,416 (GRCm39)	N733D	probably benign	Het
Itih2	C	T	2: 10,107,008 (GRCm39)	G662D	possibly damaging	Het
Kansl1l	T	C	1: 66,840,493 (GRCm39)	Q269R	probably damaging	Het
Kcnj3	A	T	2: 55,337,027 (GRCm39)	I298F	probably damaging	Het
Kdr	A	G	5: 76,107,496 (GRCm39)	F1016L	probably damaging	Het
Miga2	A	T	2: 30,268,306 (GRCm39)		probably null	Het
Or51ai2	A	T	7: 103,587,389 (GRCm39)	R267S	probably damaging	Het
Per2	C	A	1: 91,373,325 (GRCm39)	Q154H	probably damaging	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Psma5-ps	T	C	10: 85,149,848 (GRCm39)		noncoding transcript	Het
Rad18	G	A	6: 112,652,734 (GRCm39)	Q288*	probably null	Het
Rapsn	A	T	2: 90,867,169 (GRCm39)	D157V	probably damaging	Het
Slc2a8	A	T	2: 32,864,966 (GRCm39)	W394R	probably damaging	Het
Srcap	T	C	7: 127,138,237 (GRCm39)	S1136P	probably damaging	Het
Tenm4	T	A	7: 96,544,197 (GRCm39)	V2108D	probably damaging	Het
Trappc10	C	T	10: 78,029,235 (GRCm39)	V1101M	probably benign	Het
Ttbk2	C	A	2: 120,576,091 (GRCm39)		probably null	Het
Usp8	A	T	2: 126,600,075 (GRCm39)	Q998L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r80	T	C	10: 78,984,699 (GRCm39)	F17S	possibly damaging	Het

Other mutations in Pik3ap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Pik3ap1	APN	19	41,364,329 (GRCm39)	missense	possibly damaging	0.95
IGL01697:Pik3ap1	APN	19	41,313,018 (GRCm39)	missense	probably damaging	1.00
IGL01743:Pik3ap1	APN	19	41,281,267 (GRCm39)	splice site	probably benign
IGL02006:Pik3ap1	APN	19	41,291,032 (GRCm39)	missense	probably benign
IGL02507:Pik3ap1	APN	19	41,270,451 (GRCm39)	splice site	probably benign
IGL02601:Pik3ap1	APN	19	41,290,881 (GRCm39)	missense	probably benign	0.08
Canvasback	UTSW	19	41,310,069 (GRCm39)	missense	possibly damaging	0.80
Eiderdown	UTSW	19	41,312,924 (GRCm39)	splice site	silent
Pintail	UTSW	19	41,364,585 (GRCm39)	missense	probably benign	0.00
Scaup	UTSW	19	41,320,760 (GRCm39)	missense	probably damaging	1.00
Scoter	UTSW	19	41,310,024 (GRCm39)	missense	probably damaging	1.00
sooni	UTSW	19	41,316,348 (GRCm39)	missense	probably damaging	1.00
sothe	UTSW	19	41,356,683 (GRCm38)	intron	probably benign
FR4449:Pik3ap1	UTSW	19	41,270,385 (GRCm39)	small insertion	probably benign
FR4548:Pik3ap1	UTSW	19	41,270,384 (GRCm39)	small insertion	probably benign
FR4976:Pik3ap1	UTSW	19	41,270,384 (GRCm39)	small insertion	probably benign
R0504:Pik3ap1	UTSW	19	41,275,929 (GRCm39)	missense	probably damaging	1.00
R0505:Pik3ap1	UTSW	19	41,313,003 (GRCm39)	missense	probably damaging	1.00
R0736:Pik3ap1	UTSW	19	41,320,758 (GRCm39)	missense	possibly damaging	0.56
R0926:Pik3ap1	UTSW	19	41,290,964 (GRCm39)	missense	probably benign	0.00
R1521:Pik3ap1	UTSW	19	41,309,997 (GRCm39)	missense	probably damaging	1.00
R1681:Pik3ap1	UTSW	19	41,296,968 (GRCm39)	missense	probably damaging	1.00
R1779:Pik3ap1	UTSW	19	41,320,673 (GRCm39)	missense	probably damaging	1.00
R1924:Pik3ap1	UTSW	19	41,291,053 (GRCm39)	missense	possibly damaging	0.79
R1945:Pik3ap1	UTSW	19	41,262,776 (GRCm39)	missense	probably benign
R2327:Pik3ap1	UTSW	19	41,284,828 (GRCm39)	missense	probably damaging	0.99
R2891:Pik3ap1	UTSW	19	41,364,500 (GRCm39)	missense	probably benign	0.00
R2892:Pik3ap1	UTSW	19	41,364,500 (GRCm39)	missense	probably benign	0.00
R2894:Pik3ap1	UTSW	19	41,364,500 (GRCm39)	missense	probably benign	0.00
R2918:Pik3ap1	UTSW	19	41,290,970 (GRCm39)	missense	probably benign	0.00
R4424:Pik3ap1	UTSW	19	41,364,320 (GRCm39)	missense	probably benign	0.00
R4654:Pik3ap1	UTSW	19	41,316,348 (GRCm39)	missense	probably damaging	1.00
R4811:Pik3ap1	UTSW	19	41,290,936 (GRCm39)	missense	possibly damaging	0.67
R4855:Pik3ap1	UTSW	19	41,316,284 (GRCm39)	missense	probably benign	0.13
R4885:Pik3ap1	UTSW	19	41,364,365 (GRCm39)	missense	probably benign	0.28
R5119:Pik3ap1	UTSW	19	41,270,415 (GRCm39)	missense	probably benign	0.18
R5261:Pik3ap1	UTSW	19	41,364,545 (GRCm39)	missense	probably damaging	1.00
R5274:Pik3ap1	UTSW	19	41,270,391 (GRCm39)	missense	possibly damaging	0.67
R5655:Pik3ap1	UTSW	19	41,286,680 (GRCm39)	missense	possibly damaging	0.65
R5862:Pik3ap1	UTSW	19	41,320,784 (GRCm39)	missense	probably damaging	1.00
R5924:Pik3ap1	UTSW	19	41,284,895 (GRCm39)	missense	probably damaging	1.00
R6015:Pik3ap1	UTSW	19	41,316,640 (GRCm39)	missense	probably benign	0.22
R6018:Pik3ap1	UTSW	19	41,373,455 (GRCm39)	start gained	probably benign
R6515:Pik3ap1	UTSW	19	41,364,585 (GRCm39)	missense	probably benign	0.00
R6792:Pik3ap1	UTSW	19	41,310,065 (GRCm39)	missense	probably benign	0.14
R7135:Pik3ap1	UTSW	19	41,320,760 (GRCm39)	missense	probably damaging	1.00
R7162:Pik3ap1	UTSW	19	41,309,965 (GRCm39)	missense	probably benign	0.03
R7175:Pik3ap1	UTSW	19	41,275,929 (GRCm39)	missense	probably damaging	0.98
R7313:Pik3ap1	UTSW	19	41,284,815 (GRCm39)	missense	possibly damaging	0.93
R7664:Pik3ap1	UTSW	19	41,310,069 (GRCm39)	missense	possibly damaging	0.80
R7786:Pik3ap1	UTSW	19	41,310,024 (GRCm39)	missense	probably damaging	1.00
R8375:Pik3ap1	UTSW	19	41,316,538 (GRCm39)	missense	probably damaging	1.00
R8707:Pik3ap1	UTSW	19	41,313,039 (GRCm39)	missense	probably damaging	0.99
R8770:Pik3ap1	UTSW	19	41,316,599 (GRCm39)	missense	possibly damaging	0.88
R9015:Pik3ap1	UTSW	19	41,270,430 (GRCm39)	missense	probably damaging	1.00
R9100:Pik3ap1	UTSW	19	41,312,924 (GRCm39)	splice site	silent
R9369:Pik3ap1	UTSW	19	41,317,743 (GRCm39)	missense	probably damaging	1.00
R9664:Pik3ap1	UTSW	19	41,296,967 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGCTCATCATCACAAGTC -3'
(R):5'- TCTGTGTCTCTCATGCAGGG -3'

Sequencing Primer
(F):5'- ACAAGTCATTTCCTGCCAGTGG -3'
(R):5'- GATGCGACATCCTCATCTTCTACAG -3'

Posted On

2015-01-23