Mutagenetix > Incidental Mutation

Incidental Mutation 'R1785:Pik3c2b'

196174

Institutional Source

Beutler Lab

Gene Symbol

Pik3c2b

Ensembl Gene

ENSMUSG00000026447

Gene Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta

Synonyms

C330011J12Rik, PI3K-C2beta

MMRRC Submission

039816-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R1785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133045667-133108687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133066627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 110 (P110S)

Ref Sequence

ENSEMBL: ENSMUSP00000115469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077730] [ENSMUST00000153707]

AlphaFold

E9QAN8

Predicted Effect

probably benign
Transcript: ENSMUST00000077730
AA Change: P110S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: P110S

Domain	Start	End	E-Value	Type
low complexity region	155	160	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC
PI3K_rbd	363	465	2.15e-19	SMART
PI3K_C2	618	726	6.17e-29	SMART
PI3Ka	804	990	1.66e-84	SMART
PI3Kc	1078	1340	3.45e-132	SMART
PX	1364	1476	9.44e-27	SMART
low complexity region	1481	1492	N/A	INTRINSIC
C2	1517	1622	1.82e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145153

Predicted Effect

probably benign
Transcript: ENSMUST00000153707
AA Change: P110S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000115469
Gene: ENSMUSG00000026447
AA Change: P110S

Domain	Start	End	E-Value	Type
low complexity region	155	160	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186515

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 243 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,794,575 (GRCm38)	Y516H	probably damaging	Het
Abcc4	G	A	14: 118,553,349 (GRCm38)	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035 (GRCm38)	E201G	probably damaging	Het
Adgrf4	C	T	17: 42,666,898 (GRCm38)	R518Q	possibly damaging	Het
Akap13	G	T	7: 75,611,434 (GRCm38)	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128 (GRCm38)	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843 (GRCm38)	H845R	probably damaging	Het
Arhgap23	A	G	11: 97,451,561 (GRCm38)	D223G	possibly damaging	Het
Asb6	G	A	2: 30,827,076 (GRCm38)	R46W	probably damaging	Het
Aspm	A	G	1: 139,473,574 (GRCm38)	I1111V	probably benign	Het
C4bp	C	G	1: 130,642,988 (GRCm38)	V284L	probably benign	Het
Cacna1s	T	C	1: 136,118,716 (GRCm38)	F1761S	probably benign	Het
Cad	T	A	5: 31,058,072 (GRCm38)	F76I	probably damaging	Het
Camsap2	C	T	1: 136,281,315 (GRCm38)	R802Q	probably benign	Het
Capn11	A	G	17: 45,638,697 (GRCm38)	S448P	probably benign	Het
Capn9	G	A	8: 124,605,711 (GRCm38)	G430R	possibly damaging	Het
Cbx5	G	A	15: 103,213,124 (GRCm38)	R29C	probably null	Het
Ccdc93	T	C	1: 121,461,939 (GRCm38)	V237A	probably benign	Het
Ccdc93	C	T	1: 121,456,126 (GRCm38)	P192L	probably benign	Het
Ccn4	G	A	15: 66,906,489 (GRCm38)	C53Y	probably damaging	Het
Cd55	C	A	1: 130,459,633 (GRCm38)	A143S	probably benign	Het
Cd55	C	T	1: 130,449,423 (GRCm38)	V333I	probably benign	Het
Cdh19	C	A	1: 110,893,384 (GRCm38)	E541D	probably damaging	Het
Cdh7	C	G	1: 110,065,735 (GRCm38)	L307V	possibly damaging	Het
Cfh	C	T	1: 140,147,697 (GRCm38)	V268I	possibly damaging	Het
Cfh	T	C	1: 140,136,788 (GRCm38)	K374R	probably benign	Het
Cfhr2	A	G	1: 139,813,442 (GRCm38)	M265T	probably benign	Het
Cfhr2	A	C	1: 139,813,459 (GRCm38)	N259K	probably benign	Het
Chi3l1	C	T	1: 134,188,529 (GRCm38)	A250V	probably damaging	Het
Cntnap5a	C	T	1: 116,455,143 (GRCm38)	T1047I	probably benign	Het
Cntnap5a	T	C	1: 116,455,101 (GRCm38)	L1033S	probably benign	Het
Cntnap5a	C	A	1: 116,455,004 (GRCm38)	L1001I	probably benign	Het
Cntnap5c	A	G	17: 58,162,291 (GRCm38)	I623V	probably benign	Het
Cntrl	CAGAG	CAG	2: 35,122,806 (GRCm38)		probably null	Het
Crb1	T	C	1: 139,234,779 (GRCm38)	M1214V	probably benign	Het
Crb1	A	T	1: 139,237,622 (GRCm38)	H921Q	probably benign	Het
Crb1	G	A	1: 139,241,138 (GRCm38)	P881S	probably damaging	Het
Crb1	C	T	1: 139,242,995 (GRCm38)	G825R	probably damaging	Het
Crb1	C	T	1: 139,243,417 (GRCm38)	R684H	probably benign	Het
Crocc	T	C	4: 141,021,802 (GRCm38)	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077 (GRCm38)	M802L	probably damaging	Het
Cxcr4	C	T	1: 128,589,277 (GRCm38)	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667 (GRCm38)	R147W	probably damaging	Het
Daxx	T	C	17: 33,911,842 (GRCm38)	I277T	probably damaging	Het
Dctn4	T	C	18: 60,546,335 (GRCm38)		probably null	Het
Ddx59	T	C	1: 136,417,053 (GRCm38)	V154A	probably benign	Het
Dnah5	A	G	15: 28,313,786 (GRCm38)	Q1916R	probably damaging	Het
Dnah8	T	C	17: 30,722,937 (GRCm38)	V1719A	probably damaging	Het
Dsel	G	C	1: 111,859,994 (GRCm38)	T937S	probably benign	Het
Dsel	T	C	1: 111,859,457 (GRCm38)	N1116S	probably benign	Het
Dstyk	C	T	1: 132,456,984 (GRCm38)	L739F	probably damaging	Het
En1	A	G	1: 120,603,621 (GRCm38)	S197G	unknown	Het
Enah	A	T	1: 181,956,429 (GRCm38)	M105K	unknown	Het
Epm2a	A	G	10: 11,343,682 (GRCm38)	E71G	probably benign	Het
Etnk2	T	A	1: 133,376,915 (GRCm38)	V292E	probably benign	Het
Etnk2	G	A	1: 133,365,817 (GRCm38)	R166Q	probably benign	Het
Etnk2	C	T	1: 133,365,816 (GRCm38)	R166*	probably null	Het
Etnk2	G	T	1: 133,365,765 (GRCm38)	G149W	probably damaging	Het
Etnk2	C	A	1: 133,365,587 (GRCm38)	D89E	probably benign	Het
Etnk2	A	G	1: 133,363,923 (GRCm38)	S54G	probably benign	Het
Eya1	A	G	1: 14,170,974 (GRCm38)	V573A	probably benign	Het
Faim2	A	G	15: 99,512,542 (GRCm38)	L235P	probably damaging	Het
Fam221b	T	A	4: 43,665,537 (GRCm38)	H307L	probably damaging	Het
Fam72a	C	T	1: 131,538,895 (GRCm38)	T139M	probably benign	Het
Fam72a	T	C	1: 131,530,668 (GRCm38)	I56T	probably benign	Het
Fbxw10	T	A	11: 62,859,857 (GRCm38)	I422N	probably damaging	Het
Fcamr	A	G	1: 130,814,597 (GRCm38)	N574D	probably benign	Het
Fcamr	C	T	1: 130,812,816 (GRCm38)	P324L	probably benign	Het
Fcamr	A	G	1: 130,812,809 (GRCm38)	M322V	probably benign	Het
Fcamr	T	C	1: 130,812,738 (GRCm38)	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,692 (GRCm38)	I283V	probably benign	Het
Fcamr	G	A	1: 130,812,629 (GRCm38)	G262S	probably benign	Het
Fcamr	A	G	1: 130,811,580 (GRCm38)	I206V	probably benign	Het
Fcamr	A	C	1: 130,804,627 (GRCm38)	N117T	probably benign	Het
Fcamr	A	G	1: 130,804,569 (GRCm38)	R98G	probably benign	Het
Fcmr	A	G	1: 130,875,974 (GRCm38)	T172A	probably benign	Het
Fcmr	T	C	1: 130,878,269 (GRCm38)	S321P	probably benign	Het
Foxn4	C	T	5: 114,263,132 (GRCm38)	D37N	probably damaging	Het
Gabarap	C	T	11: 69,991,689 (GRCm38)		probably benign	Het
Gemin4	G	C	11: 76,211,050 (GRCm38)	P962A	probably damaging	Het
Gli2	C	T	1: 118,868,087 (GRCm38)	A113T	possibly damaging	Het
Gli2	G	T	1: 119,002,044 (GRCm38)	H44Q	probably benign	Het
Glrx2	C	T	1: 143,739,740 (GRCm38)	A27V	possibly damaging	Het
Gm10563	C	T	4: 155,635,880 (GRCm38)		probably benign	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321 (GRCm38)		probably benign	Het
Gm8374	T	C	14: 7,364,194 (GRCm38)	T49A	probably damaging	Het
Golim4	A	T	3: 75,908,149 (GRCm38)	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722 (GRCm38)	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403 (GRCm38)	S268P	probably damaging	Het
Gpr25	G	A	1: 136,260,710 (GRCm38)	P55L	probably benign	Het
Grm7	G	C	6: 111,358,295 (GRCm38)	D556H	probably damaging	Het
H2-K1	C	A	17: 33,997,348 (GRCm38)	E275*	probably null	Het
Ift20	G	A	11: 78,540,034 (GRCm38)	E68K	probably damaging	Het
Igfn1	T	C	1: 135,998,683 (GRCm38)	I10V	unknown	Het
Igfn1	T	C	1: 135,998,625 (GRCm38)	E29G	probably benign	Het
Igfn1	G	A	1: 135,982,475 (GRCm38)	R124W	probably benign	Het
Igfn1	C	T	1: 135,979,915 (GRCm38)	A231T	probably benign	Het
Igfn1	C	T	1: 135,972,127 (GRCm38)	R482Q	probably benign	Het
Igfn1	T	C	1: 135,970,411 (GRCm38)	S806G	probably benign	Het
Igfn1	G	A	1: 135,968,199 (GRCm38)	A1543V	probably benign	Het
Igfn1	G	A	1: 135,959,928 (GRCm38)	P2466L	probably damaging	Het
Ikbke	T	C	1: 131,269,823 (GRCm38)	S447G	probably benign	Het
Ikbke	C	A	1: 131,265,937 (GRCm38)	A459S	probably benign	Het
Insrr	G	A	3: 87,810,572 (GRCm38)		probably null	Het
Ipo9	A	G	1: 135,402,250 (GRCm38)	V484A	probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,281 (GRCm38)		probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268 (GRCm38)		probably benign	Het
Jarid2	T	A	13: 44,906,276 (GRCm38)	N661K	probably damaging	Het
Kcnt2	G	A	1: 140,354,547 (GRCm38)	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279 (GRCm38)	N108D	probably benign	Het
Kif14	A	G	1: 136,468,975 (GRCm38)	K340E	probably damaging	Het
Kif14	G	A	1: 136,478,365 (GRCm38)	A556T	probably benign	Het
Kif14	A	G	1: 136,490,332 (GRCm38)	S868G	probably benign	Het
Kif14	C	T	1: 136,503,431 (GRCm38)	L1189F	probably benign	Het
Kif14	T	C	1: 136,515,961 (GRCm38)	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783 (GRCm38)	V1433A	probably benign	Het
Kmt2a	G	A	9: 44,819,675 (GRCm38)		probably benign	Het
Krtap16-1	A	T	11: 99,985,776 (GRCm38)	C267*	probably null	Het
Lad1	C	T	1: 135,828,023 (GRCm38)	R346C	probably damaging	Het
Lad1	C	T	1: 135,827,381 (GRCm38)	P132S	possibly damaging	Het
Lax1	G	A	1: 133,683,634 (GRCm38)	P67S	probably damaging	Het
Lax1	T	C	1: 133,680,569 (GRCm38)	N145D	probably benign	Het
Lax1	T	C	1: 133,679,978 (GRCm38)	R342G	probably benign	Het
Lgr6	C	T	1: 135,003,476 (GRCm38)	S3N	probably benign	Het
Lgr6	G	T	1: 134,990,635 (GRCm38)	H263N	probably benign	Het
Lgr6	A	T	1: 134,988,009 (GRCm38)	S334T	probably benign	Het
Lgr6	C	T	1: 134,987,088 (GRCm38)	V641I	probably benign	Het
Lhx6	G	T	2: 36,087,458 (GRCm38)	C327*	probably null	Het
Lifr	A	G	15: 7,181,856 (GRCm38)	D625G	possibly damaging	Het
Lman1	A	T	18: 65,991,582 (GRCm38)	M362K	probably damaging	Het
Lmod1	C	T	1: 135,364,073 (GRCm38)	T222I	probably benign	Het
Lmtk2	C	T	5: 144,174,988 (GRCm38)	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809 (GRCm38)	L227*	probably null	Het
Magel2	A	T	7: 62,377,738 (GRCm38)	H130L	unknown	Het
Mki67	T	A	7: 135,704,241 (GRCm38)		probably null	Het
Mnx1	T	A	5: 29,474,189 (GRCm38)	S299C	unknown	Het
Mov10	A	T	3: 104,818,116 (GRCm38)	I59N	possibly damaging	Het
Mpo	A	G	11: 87,797,361 (GRCm38)	D282G	possibly damaging	Het
Mroh3	G	C	1: 136,192,144 (GRCm38)	Q440E	possibly damaging	Het
Mybph	C	T	1: 134,197,480 (GRCm38)	R249C	probably benign	Het
Myo7b	T	C	18: 31,994,897 (GRCm38)	I581V	probably benign	Het
Nav1	A	T	1: 135,584,727 (GRCm38)	D198E	possibly damaging	Het
Ncdn	T	A	4: 126,745,273 (GRCm38)		probably null	Het
Ndufa4	A	T	6: 11,900,575 (GRCm38)	V37E	probably benign	Het
Nop9	T	C	14: 55,751,142 (GRCm38)	L347P	probably damaging	Het
Nr5a2	C	A	1: 136,952,125 (GRCm38)	R35L	probably benign	Het
Nrp1	A	T	8: 128,498,516 (GRCm38)	E782D	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,903,796 (GRCm38)		probably null	Het
Optc	C	G	1: 133,905,170 (GRCm38)	S64T	probably benign	Het
Or11m3	A	T	15: 98,497,835 (GRCm38)	D121V	probably damaging	Het
Or1j13	A	G	2: 36,480,047 (GRCm38)	S28P	possibly damaging	Het
Or2z8	A	G	8: 72,058,436 (GRCm38)	Y252C	probably damaging	Het
Or4a68	C	T	2: 89,439,583 (GRCm38)	R232H	probably benign	Het
Or5k3	A	G	16: 59,149,297 (GRCm38)	Y149C	probably damaging	Het
Pard6g	T	C	18: 80,117,308 (GRCm38)	V212A	probably damaging	Het
Pbx1	T	G	1: 168,431,378 (GRCm38)	I43L	probably benign	Het
Phf2	T	C	13: 48,817,567 (GRCm38)	D543G	unknown	Het
Pigr	C	T	1: 130,844,522 (GRCm38)	A159V	possibly damaging	Het
Pkd1	T	C	17: 24,591,099 (GRCm38)	V3558A	probably benign	Het
Pla2g6	T	C	15: 79,306,345 (GRCm38)	Y339C	probably benign	Het
Plcb1	T	A	2: 135,325,667 (GRCm38)	Y460*	probably null	Het
Plekha6	C	G	1: 133,287,846 (GRCm38)	T792S	probably benign	Het
Ppard	T	G	17: 28,298,481 (GRCm38)		probably null	Het
Ppfia4	G	A	1: 134,299,321 (GRCm38)	P1159S	probably benign	Het
Ppm1f	A	G	16: 16,910,970 (GRCm38)	T79A	probably benign	Het
Prelp	C	T	1: 133,915,131 (GRCm38)	R92K	probably benign	Het
Ptgdr	A	T	14: 44,858,579 (GRCm38)	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052 (GRCm38)	I90V	probably damaging	Het
Ptpn7	A	G	1: 135,134,475 (GRCm38)	Q53R	probably benign	Het
Ptprc	T	G	1: 138,099,676 (GRCm38)	N478T	probably benign	Het
Ptprc	A	G	1: 138,107,823 (GRCm38)	S405P	probably benign	Het
Ptprc	C	A	1: 138,107,824 (GRCm38)	E402D	probably benign	Het
Ptprc	A	G	1: 138,107,837 (GRCm38)	V400A	probably benign	Het
Ptprc	T	C	1: 138,112,254 (GRCm38)	K212E	possibly damaging	Het
Pus7l	T	C	15: 94,540,637 (GRCm38)	N109S	probably benign	Het
Rab29	A	G	1: 131,872,110 (GRCm38)	Q141R	probably benign	Het
Ren1	C	G	1: 133,350,778 (GRCm38)		probably null	Het
Ren1	T	A	1: 133,354,206 (GRCm38)	W22R	probably damaging	Het
Ren1	C	T	1: 133,354,237 (GRCm38)	T32I	probably benign	Het
Ren1	A	T	1: 133,359,079 (GRCm38)	E315D	probably benign	Het
Ren1	A	T	1: 133,359,983 (GRCm38)	N352Y	probably benign	Het
Ren1	C	G	1: 133,360,007 (GRCm38)	L360V	probably benign	Het
Rfwd3	A	T	8: 111,297,402 (GRCm38)	V96E	probably benign	Het
Ripk4	A	C	16: 97,750,131 (GRCm38)	V149G	probably damaging	Het
Rnpep	C	T	1: 135,263,096 (GRCm38)	A571T	possibly damaging	Het
Rnpep	G	C	1: 135,283,977 (GRCm38)	A11G	probably benign	Het
Ro60	C	T	1: 143,760,014 (GRCm38)	V465I	probably benign	Het
Ro60	T	C	1: 143,760,034 (GRCm38)	D458G	probably benign	Het
Rora	G	A	9: 69,376,837 (GRCm38)	A396T	probably benign	Het
Scap	C	T	9: 110,374,055 (GRCm38)	L266F	probably damaging	Het
Scn5a	A	T	9: 119,521,129 (GRCm38)	I893N	probably damaging	Het
Sctr	T	C	1: 120,031,656 (GRCm38)	F110L	probably benign	Het
Sctr	G	T	1: 120,063,246 (GRCm38)	E453D	probably benign	Het
Sctr	G	A	1: 120,063,257 (GRCm38)	S440N	possibly damaging	Het
Septin4	A	T	11: 87,583,436 (GRCm38)	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,538,473 (GRCm38)	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,515,635 (GRCm38)	A55T	probably damaging	Het
Serpinb2	C	A	1: 107,523,834 (GRCm38)	A239E	probably benign	Het
Serpinb2	C	T	1: 107,523,890 (GRCm38)	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,523,894 (GRCm38)	T259I	probably benign	Het
Serpinb2	A	C	1: 107,524,543 (GRCm38)	S284R	probably benign	Het
Serpinb8	A	C	1: 107,607,004 (GRCm38)	L268F	probably benign	Het
Serpinb8	G	A	1: 107,598,954 (GRCm38)	A75T	probably benign	Het
Serpinb8	A	G	1: 107,597,527 (GRCm38)	S20G	probably benign	Het
Slc26a9	C	T	1: 131,763,870 (GRCm38)	A617V	probably benign	Het
Slc26a9	C	A	1: 131,766,012 (GRCm38)	R747S	probably benign	Het
Slc9a4	T	G	1: 40,607,741 (GRCm38)		probably null	Het
Slc9a9	A	T	9: 95,019,193 (GRCm38)	N393I	possibly damaging	Het
Stard13	T	C	5: 151,045,168 (GRCm38)	Y879C	probably damaging	Het
Steap3	G	A	1: 120,234,378 (GRCm38)	A350V	probably benign	Het
Steap3	T	C	1: 120,227,750 (GRCm38)	N493S	probably benign	Het
Synj1	G	T	16: 90,964,517 (GRCm38)	A687D	probably damaging	Het
Tacc1	A	T	8: 25,164,493 (GRCm38)	N271K	probably damaging	Het
Tbx1	A	C	16: 18,585,129 (GRCm38)	F138V	probably damaging	Het
Tecpr1	T	A	5: 144,208,645 (GRCm38)	T595S	probably benign	Het
Thsd7b	G	C	1: 129,678,183 (GRCm38)	A554P	probably benign	Het
Thsd7b	T	A	1: 129,667,937 (GRCm38)	F498Y	probably benign	Het
Thsd7b	C	T	1: 129,628,891 (GRCm38)	T328I	probably damaging	Het
Thsd7b	A	C	1: 130,116,631 (GRCm38)	Q1116P	probably benign	Het
Tnnt2	C	T	1: 135,845,506 (GRCm38)		probably benign	Het
Trappc8	A	G	18: 20,834,940 (GRCm38)		probably null	Het
Trim33	AGACTG	A	3: 103,329,220 (GRCm38)		probably null	Het
Trim41	C	A	11: 48,807,592 (GRCm38)	G516W	probably damaging	Het
Ttn	A	C	2: 76,885,926 (GRCm38)		probably null	Het
Ttn	C	T	2: 76,813,339 (GRCm38)	G11436R	probably damaging	Het
Txk	T	A	5: 72,696,579 (GRCm38)	T472S	probably damaging	Het
Ube2t	C	T	1: 134,972,167 (GRCm38)	A149V	probably benign	Het
Ubr4	T	A	4: 139,423,945 (GRCm38)	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376 (GRCm38)	L391P	probably damaging	Het
Vmn2r55	A	T	7: 12,668,184 (GRCm38)	D392E	probably damaging	Het
Vps13b	A	G	15: 35,879,791 (GRCm38)	Y3004C	probably damaging	Het
Vps26a	A	T	10: 62,468,397 (GRCm38)	D180E	probably benign	Het
Xirp1	T	G	9: 120,016,907 (GRCm38)	Q970P	probably benign	Het
Zbtb46	C	T	2: 181,391,431 (GRCm38)	C479Y	probably damaging	Het
Zc3h11a	C	T	1: 133,624,621 (GRCm38)	V583I	probably benign	Het
Zc3h11a	G	A	1: 133,622,154 (GRCm38)	P695S	probably benign	Het
Zdhhc13	T	A	7: 48,824,644 (GRCm38)	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304 (GRCm38)	M1225V	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353 (GRCm38)		probably benign	Het
Zfyve26	T	A	12: 79,268,434 (GRCm38)	I1423F	possibly damaging	Het
Zp3r	A	G	1: 130,596,814 (GRCm38)	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414 (GRCm38)	E8D	possibly damaging	Het

Other mutations in Pik3c2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Pik3c2b	APN	1	133,091,618 (GRCm38)	missense	probably damaging	0.98
IGL01288:Pik3c2b	APN	1	133,094,805 (GRCm38)	missense	probably damaging	0.96
IGL01313:Pik3c2b	APN	1	133,071,631 (GRCm38)	nonsense	probably null
IGL01367:Pik3c2b	APN	1	133,105,988 (GRCm38)	missense	probably benign	0.02
IGL02379:Pik3c2b	APN	1	133,094,791 (GRCm38)	missense	probably damaging	1.00
IGL02638:Pik3c2b	APN	1	133,077,318 (GRCm38)	splice site	probably benign
IGL02728:Pik3c2b	APN	1	133,092,327 (GRCm38)	missense	probably benign	0.09
IGL02992:Pik3c2b	APN	1	133,066,980 (GRCm38)	nonsense	probably null
IGL03121:Pik3c2b	APN	1	133,079,745 (GRCm38)	missense	probably benign	0.00
R0453:Pik3c2b	UTSW	1	133,077,396 (GRCm38)	missense	probably damaging	1.00
R0518:Pik3c2b	UTSW	1	133,105,992 (GRCm38)	missense	probably damaging	1.00
R0616:Pik3c2b	UTSW	1	133,100,831 (GRCm38)	missense	probably damaging	1.00
R0659:Pik3c2b	UTSW	1	133,071,200 (GRCm38)	missense	probably damaging	0.99
R1542:Pik3c2b	UTSW	1	133,090,034 (GRCm38)	missense	probably damaging	1.00
R1716:Pik3c2b	UTSW	1	133,094,826 (GRCm38)	missense	probably damaging	1.00
R1728:Pik3c2b	UTSW	1	133,066,627 (GRCm38)	missense	probably benign	0.00
R1729:Pik3c2b	UTSW	1	133,066,627 (GRCm38)	missense	probably benign	0.00
R1730:Pik3c2b	UTSW	1	133,066,627 (GRCm38)	missense	probably benign	0.00
R1739:Pik3c2b	UTSW	1	133,066,627 (GRCm38)	missense	probably benign	0.00
R1762:Pik3c2b	UTSW	1	133,066,627 (GRCm38)	missense	probably benign	0.00
R1783:Pik3c2b	UTSW	1	133,066,627 (GRCm38)	missense	probably benign	0.00
R1784:Pik3c2b	UTSW	1	133,066,627 (GRCm38)	missense	probably benign	0.00
R1816:Pik3c2b	UTSW	1	133,101,370 (GRCm38)	missense	probably benign	0.00
R1897:Pik3c2b	UTSW	1	133,066,916 (GRCm38)	missense	possibly damaging	0.57
R2006:Pik3c2b	UTSW	1	133,066,544 (GRCm38)	missense	probably damaging	1.00
R2067:Pik3c2b	UTSW	1	133,099,611 (GRCm38)	missense	probably damaging	1.00
R2271:Pik3c2b	UTSW	1	133,103,428 (GRCm38)	missense	probably benign
R2294:Pik3c2b	UTSW	1	133,066,775 (GRCm38)	missense	probably damaging	1.00
R2320:Pik3c2b	UTSW	1	133,103,413 (GRCm38)	missense	probably damaging	1.00
R4735:Pik3c2b	UTSW	1	133,067,049 (GRCm38)	missense	probably benign	0.25
R4926:Pik3c2b	UTSW	1	133,099,626 (GRCm38)	nonsense	probably null
R4948:Pik3c2b	UTSW	1	133,099,715 (GRCm38)	critical splice donor site	probably null
R4997:Pik3c2b	UTSW	1	133,105,081 (GRCm38)	missense	probably damaging	1.00
R5304:Pik3c2b	UTSW	1	133,070,408 (GRCm38)	missense	possibly damaging	0.50
R5461:Pik3c2b	UTSW	1	133,099,702 (GRCm38)	missense	possibly damaging	0.66
R5722:Pik3c2b	UTSW	1	133,103,836 (GRCm38)	missense	probably damaging	1.00
R5971:Pik3c2b	UTSW	1	133,074,627 (GRCm38)	splice site	probably null
R5980:Pik3c2b	UTSW	1	133,088,308 (GRCm38)	missense	probably benign	0.43
R6036:Pik3c2b	UTSW	1	133,090,713 (GRCm38)	missense	possibly damaging	0.95
R6138:Pik3c2b	UTSW	1	133,074,627 (GRCm38)	splice site	probably null
R6223:Pik3c2b	UTSW	1	133,070,357 (GRCm38)	missense	probably damaging	1.00
R6273:Pik3c2b	UTSW	1	133,066,711 (GRCm38)	missense	probably benign	0.02
R6742:Pik3c2b	UTSW	1	133,075,821 (GRCm38)	missense	probably benign
R6954:Pik3c2b	UTSW	1	133,066,303 (GRCm38)	missense	possibly damaging	0.50
R6998:Pik3c2b	UTSW	1	133,102,372 (GRCm38)	missense	probably benign	0.23
R7103:Pik3c2b	UTSW	1	133,105,974 (GRCm38)	missense	probably damaging	1.00
R7133:Pik3c2b	UTSW	1	133,090,234 (GRCm38)	missense	possibly damaging	0.73
R7161:Pik3c2b	UTSW	1	133,106,112 (GRCm38)	missense	probably damaging	0.98
R7183:Pik3c2b	UTSW	1	133,066,465 (GRCm38)	missense	probably benign	0.00
R7193:Pik3c2b	UTSW	1	133,079,774 (GRCm38)	missense	probably benign	0.00
R7252:Pik3c2b	UTSW	1	133,094,734 (GRCm38)	missense	probably benign	0.19
R7263:Pik3c2b	UTSW	1	133,090,202 (GRCm38)	missense	probably damaging	0.98
R7404:Pik3c2b	UTSW	1	133,090,706 (GRCm38)	missense	probably damaging	1.00
R7709:Pik3c2b	UTSW	1	133,079,841 (GRCm38)	critical splice donor site	probably null
R7712:Pik3c2b	UTSW	1	133,085,611 (GRCm38)	missense	probably damaging	1.00
R7823:Pik3c2b	UTSW	1	133,102,305 (GRCm38)	missense	probably damaging	1.00
R7831:Pik3c2b	UTSW	1	133,071,242 (GRCm38)	missense	possibly damaging	0.94
R7913:Pik3c2b	UTSW	1	133,090,061 (GRCm38)	critical splice donor site	probably null
R7916:Pik3c2b	UTSW	1	133,100,904 (GRCm38)	missense	probably benign	0.30
R7960:Pik3c2b	UTSW	1	133,103,849 (GRCm38)	missense	probably damaging	1.00
R7981:Pik3c2b	UTSW	1	133,075,809 (GRCm38)	critical splice acceptor site	probably null
R8346:Pik3c2b	UTSW	1	133,090,246 (GRCm38)	missense	probably damaging	0.97
R8938:Pik3c2b	UTSW	1	133,088,330 (GRCm38)	missense	probably benign	0.19
R8997:Pik3c2b	UTSW	1	133,090,779 (GRCm38)	missense	possibly damaging	0.83
R9416:Pik3c2b	UTSW	1	133,077,449 (GRCm38)	missense	probably damaging	1.00
R9598:Pik3c2b	UTSW	1	133,084,987 (GRCm38)	critical splice donor site	probably null
R9621:Pik3c2b	UTSW	1	133,071,607 (GRCm38)	missense	probably damaging	1.00
R9742:Pik3c2b	UTSW	1	133,094,749 (GRCm38)	missense	probably damaging	1.00
R9776:Pik3c2b	UTSW	1	133,090,850 (GRCm38)	missense	possibly damaging	0.64
R9786:Pik3c2b	UTSW	1	133,091,600 (GRCm38)	missense	possibly damaging	0.94
U15987:Pik3c2b	UTSW	1	133,074,627 (GRCm38)	splice site	probably null
X0060:Pik3c2b	UTSW	1	133,084,936 (GRCm38)	missense	probably benign	0.18
Z1176:Pik3c2b	UTSW	1	133,099,686 (GRCm38)	nonsense	probably null
Z1176:Pik3c2b	UTSW	1	133,066,553 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGAGCCAGCCTTGGACTTCTAC -3'
(R):5'- GGCTGTTCTGCCGAAGAGAAACTG -3'

Sequencing Primer
(F):5'- TTGGACTTCTACAGCAAGCC -3'
(R):5'- GCAAGGGAGGGGCATCC -3'

Posted On

2014-05-23