Mutagenetix > Incidental Mutation

Incidental Mutation 'R2892:Pik3ap1'

260147

Institutional Source

Beutler Lab

Gene Symbol

Pik3ap1

Ensembl Gene

ENSMUSG00000025017

Gene Name

phosphoinositide-3-kinase adaptor protein 1

Synonyms

BCAP, 1810044J04Rik

MMRRC Submission

040480-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2892 (G1)

Quality Score

191

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,751,661 (GRCm39)	D232G	probably damaging	Het
Ank2	T	C	3: 127,041,892 (GRCm39)		probably null	Het
Atp6v0a4	T	C	6: 38,029,952 (GRCm39)	E704G	probably benign	Het
Bbx	A	G	16: 50,045,104 (GRCm39)	Y378H	probably damaging	Het
Carmil3	T	C	14: 55,735,770 (GRCm39)	V574A	probably damaging	Het
Cpz	A	G	5: 35,668,473 (GRCm39)	V379A	probably damaging	Het
Cyp4f15	A	G	17: 32,905,182 (GRCm39)	D55G	probably benign	Het
Dcun1d2	A	T	8: 13,328,649 (GRCm39)	I86N	probably damaging	Het
Defa30	A	T	8: 21,624,679 (GRCm39)	M1L	probably damaging	Het
Fzd8	G	T	18: 9,214,514 (GRCm39)	G532V	probably damaging	Het
Gcfc2	T	C	6: 81,933,894 (GRCm39)	F717S	possibly damaging	Het
Gckr	T	C	5: 31,483,816 (GRCm39)	V563A	probably benign	Het
Ighv1-24	T	G	12: 114,736,679 (GRCm39)	K74Q	probably benign	Het
Kcnj3	A	T	2: 55,337,027 (GRCm39)	I298F	probably damaging	Het
Miga2	A	T	2: 30,268,306 (GRCm39)		probably null	Het
Mmrn2	T	G	14: 34,118,587 (GRCm39)	F158V	probably benign	Het
Mug1	G	A	6: 121,817,029 (GRCm39)	V33M	possibly damaging	Het
Myom1	T	C	17: 71,341,648 (GRCm39)	S136P	probably damaging	Het
Nadk	A	G	4: 155,671,817 (GRCm39)	N232S	possibly damaging	Het
Or6c217	A	G	10: 129,737,809 (GRCm39)	Y257H	possibly damaging	Het
Or7g27	A	G	9: 19,250,034 (GRCm39)	T93A	probably benign	Het
Pcnx2	A	G	8: 126,617,797 (GRCm39)	S153P	probably damaging	Het
Pde8b	T	C	13: 95,170,767 (GRCm39)	D633G	probably damaging	Het
Plrg1	C	A	3: 82,978,547 (GRCm39)	Q438K	probably damaging	Het
Plxna4	A	G	6: 32,493,972 (GRCm39)	Y215H	probably damaging	Het
Rapsn	A	T	2: 90,867,169 (GRCm39)	D157V	probably damaging	Het
Rock1	G	A	18: 10,072,863 (GRCm39)	Q1161*	probably null	Het
Snrnp200	T	C	2: 127,073,697 (GRCm39)	L1365P	probably damaging	Het
Srcap	T	C	7: 127,138,237 (GRCm39)	S1136P	probably damaging	Het
Trim80	A	G	11: 115,338,849 (GRCm39)	T560A	possibly damaging	Het
Ttll2	T	C	17: 7,620,098 (GRCm39)		probably null	Het
Usp8	A	T	2: 126,600,075 (GRCm39)	Q998L	probably damaging	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Zfp82	G	A	7: 29,755,864 (GRCm39)	T406I	probably 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
R2893: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'- GAAATGGCCTTCCTCACAGC -3'
(R):5'- GCGACATCCTCATCTTCTACAG -3'

Sequencing Primer
(F):5'- AGGTCTCTGGCTCATCATCACAAG -3'
(R):5'- ATCTTCTACAGCCCAGATGCGG -3'

Posted On

2015-01-23